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
TFG	10342	broad.mit.edu	37	3	100438863	100438863	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:100438863G>A	ENST00000240851.4	+	3	569	c.229G>A	c.(229-231)Gca>Aca	p.A77T	TFG_ENST00000476228.1_Missense_Mutation_p.A77T|TFG_ENST00000490574.1_Missense_Mutation_p.A77T|TFG_ENST00000418917.2_Missense_Mutation_p.A77T	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	77					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CCTTTCCTTTGCAATTCAGTG	0.254000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								26	79					0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29648259	29648259	+	Splice_Site	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:29648259A>T	ENST00000217740.3	+	6	1104		c.e6-1		RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_Splice_Site	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase						negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTTTATTGTAGGATTTTAAT	0.328000													14	28					0	0	1	0	0
FAM118A	55007	broad.mit.edu	37	22	45723878	45723878	+	Silent	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:45723878G>C	ENST00000216214.3	+	5	1290	c.456G>C	c.(454-456)ctG>ctC	p.L152L	FAM118A_ENST00000441876.2_Silent_p.L152L|FAM118A_ENST00000405673.1_Silent_p.L152L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	152						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATGACAACCTGCTGGAGGCCT	0.627000													6	19					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479700	4479700	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:4479700G>T	ENST00000237837.1	-	3	710	c.565C>A	c.(565-567)Ccc>Acc	p.P189T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	189					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			ACGTTCAGGGGGTCCCGCTCC	0.682000													9	27					7.48243e-07	8.18832e-07	1	1	0
TMEM67	91147	broad.mit.edu	37	8	94797466	94797466	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:94797466C>G	ENST00000453321.3	+	12	1206	c.1148C>G	c.(1147-1149)tCt>tGt	p.S383C	TMEM67_ENST00000409623.3_Missense_Mutation_p.S302C	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	383					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATTCCTATCTCTAAGATCTTA	0.269000													45	181					0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99329918	99329918	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:99329918G>A	ENST00000370664.3	+	3	658	c.322G>A	c.(322-324)Gag>Aag	p.E108K		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	108										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		ATGCTACGATGAGCTGGGCAA	0.592000													63	197					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614330	15614330	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:15614330G>A	ENST00000378076.3	-	25	2870	c.2517C>T	c.(2515-2517)atC>atT	p.I839I		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCACCTCCAGGATGGTGTCAC	0.443000													25	89					0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28214806	28214806	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:28214806G>C	ENST00000377294.2	-	4	962	c.719C>G	c.(718-720)tCt>tGt	p.S240C	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.S85C	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	240	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTCACCTGAGATGAATCCAG	0.468000													44	73					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351449	172351449	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:172351449T>A	ENST00000475381.1	-	5	1276	c.1043A>T	c.(1042-1044)gAt>gTt	p.D348V	NCEH1_ENST00000543711.1_Missense_Mutation_p.D215V|NCEH1_ENST00000273512.3_Missense_Mutation_p.D380V|NCEH1_ENST00000538775.1_Missense_Mutation_p.D388V			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	348					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TCTGAGGACATCATGCTCACA	0.557000													33	55					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777424	183777424	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:183777424C>A	ENST00000318351.1	+	7	955	c.921C>A	c.(919-921)ctC>ctA	p.L307L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	307						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCACCCCCCTCATCAGTATGG	0.582000													96	143					3.41951e-42	4.64839e-42	1	1	0
CCSER2	54462	broad.mit.edu	37	10	86131302	86131302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:86131302C>T	ENST00000224756.8	+	2	679	c.494C>T	c.(493-495)tCg>tTg	p.S165L	CCSER2_ENST00000372088.2_Missense_Mutation_p.S165L|CCSER2_ENST00000359979.4_Missense_Mutation_p.S165L	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TCATATTCTTCGATCAATACT	0.413000													21	56					0	0	1	0	0
CUL3	8452	broad.mit.edu	37	2	225338975	225338975	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:225338975G>A	ENST00000264414.4	-	16	2632	c.2294C>T	c.(2293-2295)aCa>aTa	p.T765I	CUL3_ENST00000409096.1_Missense_Mutation_p.T741I|CUL3_ENST00000344951.4_Missense_Mutation_p.T699I|CUL3_ENST00000409777.1_Missense_Mutation_p.T741I	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	765					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGCTACATATGTGTATACTTT	0.363000													27	77					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74611109	74611109	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:74611109C>T	ENST00000253159.8	+	11	2017	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	ZNF236_ENST00000320610.9_Missense_Mutation_p.R609C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	607					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGCAAAGGTCCGTGTTGGCAA	0.423000													13	38					0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102625994	102625994	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:102625994C>A	ENST00000330847.1	+	7	1803	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	NR4A3_ENST00000395097.2_Missense_Mutation_p.L576M			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	576					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GGGACAGGCTCTGGAGCCCAC	0.517000			T	EWSR1	extraskeletal myxoid chondrosarcoma								18	16					1.87028e-06	2.0276e-06	1	1	0
MSC-AS1	100132891	broad.mit.edu	37	8	72964803	72964803	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:72964803C>A	ENST00000524152.1	+	4	426	c.192C>A	c.(190-192)caC>caA	p.H64Q	RP11-383H13.1_ENST00000457356.4_3'UTR|TRPA1_ENST00000262209.4_Intron|RP11-383H13.1_ENST00000537896.1_3'UTR																lung(1)	1						CCAGAGAACACTAAATGACAG	0.368000													37	46					7.53189e-24	9.6011e-24	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48688477	48688477	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:48688477G>C	ENST00000544264.1	-	15	6498	c.6218C>G	c.(6217-6219)tCt>tGt	p.S2073C	CELSR3_ENST00000164024.4_Missense_Mutation_p.S2073C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2073	EGF-like 8; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGGAGGCAAGAGTCACTGCC	0.637000													30	62					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408050	107408050	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:107408050C>T	ENST00000340010.5	-	20	2429	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	SLC26A3_ENST00000422236.2_Missense_Mutation_p.G636R	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	749					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAATCCTCCATTTGTATTT	0.333000													10	36					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127681175	127681175	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:127681175C>T	ENST00000508053.1	-	30	4065	c.3091G>A	c.(3091-3093)Gcg>Acg	p.A1031T	FBN2_ENST00000508989.1_Missense_Mutation_p.A998T|FBN2_ENST00000262464.4_Missense_Mutation_p.A1031T			P35556	FBN2_HUMAN	fibrillin 2	1031	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCAAGCCGCCCCGACAGCA	0.592000													6	115					0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71189308	71189308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:71189308G>T	ENST00000299886.4	+	1	180	c.100G>T	c.(100-102)Gag>Tag	p.E34*	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	34					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CCGCGGGCTGGAGCGCCAGGT	0.682000													4	5					0.00198382	0.00203649	1	1	0
PARD3	56288	broad.mit.edu	37	10	34805969	34805969	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:34805969G>A	ENST00000374789.3	-	3	666	c.341C>T	c.(340-342)tCa>tTa	p.S114L	PARD3_ENST00000545693.1_Missense_Mutation_p.S114L|PARD3_ENST00000350537.4_Missense_Mutation_p.S114L|PARD3_ENST00000374788.3_Missense_Mutation_p.S114L|PARD3_ENST00000545260.1_Missense_Mutation_p.S114L|PARD3_ENST00000374790.3_Missense_Mutation_p.S114L|PARD3_ENST00000374776.1_Missense_Mutation_p.S114L|PARD3_ENST00000346874.4_Missense_Mutation_p.S114L|PARD3_ENST00000374794.3_Missense_Mutation_p.S114L|PARD3_ENST00000340077.5_Missense_Mutation_p.S114L|PARD3_ENST00000374773.1_Missense_Mutation_p.S114L	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	114					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTGAAAGGCTGAGACATTGTT	0.488000													29	73					0	0	1	0	0
DLG1	1739	broad.mit.edu	37	3	196792215	196792215	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:196792215C>T	ENST00000346964.2	-	23	2593	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	DLG1_ENST00000357674.4_Missense_Mutation_p.E769K|DLG1_ENST00000314062.3_Missense_Mutation_p.E729K|DLG1_ENST00000452595.1_Missense_Mutation_p.E664K|DLG1_ENST00000450955.1_Missense_Mutation_p.E769K|DLG1_ENST00000448528.2_Missense_Mutation_p.E780K|DLG1_ENST00000443183.1_Missense_Mutation_p.E676K|DLG1_ENST00000422288.1_Missense_Mutation_p.E729K|DLG1_ENST00000419354.1_Missense_Mutation_p.E780K|DLG1_ENST00000392382.2_Missense_Mutation_p.E747K	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	780	Guanylate kinase-like.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGGCCAGCTTCAATGAATTTA	0.368000													79	119					0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496521	54496521	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:54496521G>C	ENST00000375135.3	-	4	1762	c.1029C>G	c.(1027-1029)gaC>gaG	p.D343E		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcgtcgtcctcctcct	0.627000													17	14					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916222	72916222	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:72916222C>A	ENST00000319642.1	-	2	891	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	237					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CTCTTGCGCCCATCCTCGGAG	0.687000													29	52					7.11191e-15	8.44691e-15	1	1	0
LRP2	4036	broad.mit.edu	37	2	170027160	170027160	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:170027160C>T	ENST00000263816.3	-	59	11566	c.11281G>A	c.(11281-11283)Gag>Aag	p.E3761K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3761	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACTCGCTCTCTGTGCACTCC	0.542000													35	81					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925301	195925301	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:195925301C>A	ENST00000296326.3	-	7	874	c.795G>T	c.(793-795)caG>caT	p.Q265H		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	265						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CTCTCTGCAGCTGGACAGCTT	0.662000													14	53					2.94398e-08	3.27318e-08	1	1	0
IGHA1	3493	broad.mit.edu	37	14	106174848	106174848	+	RNA	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:106174848T>A	ENST00000390547.2	-	0	154																											GGGTGGGAAGTTTCTGGCGGT	0.652000													39	43					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2549360	2549360	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:2549360T>A	ENST00000567020.1	+	4	1267	c.1127T>A	c.(1126-1128)tTc>tAc	p.F376Y	RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Missense_Mutation_p.F382Y|TBC1D24_ENST00000434757.2_Missense_Mutation_p.F382Y	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	382	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TACGCCAGGTTCTACTTCCAG	0.637000													7	19					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94008862	94008862	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:94008862G>T	ENST00000553484.1	+	14	1729	c.1575G>T	c.(1573-1575)cgG>cgT	p.R525R	UNC79_ENST00000393151.2_Silent_p.R525R|UNC79_ENST00000555664.1_Silent_p.R525R|UNC79_ENST00000256339.4_Silent_p.R348R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	525						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTTGGCCCGGCTGGTGGCCA	0.498000													6	22					2.7689e-08	3.08838e-08	1	1	0
FLG	2312	broad.mit.edu	37	1	152282528	152282528	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:152282528C>G	ENST00000368799.1	-	3	4869	c.4834G>C	c.(4834-4836)Gag>Cag	p.E1612Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1612	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCCGACTCAGACCGCCTC	0.567000									Ichthyosis				46	216					0	0	1	0	0
PSMD10	5716	broad.mit.edu	37	X	107330987	107330987	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:107330987C>T	ENST00000217958.3	-	4	553	c.456G>A	c.(454-456)ttG>ttA	p.L152L	PSMD10_ENST00000340200.5_Silent_p.L119L|PSMD10_ENST00000361815.5_Intron|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000372295.1_Silent_p.L111L	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	152	Interaction with RELA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAATCATCTTCAAGTTACCCT	0.463000													49	50					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357725	114357725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:114357725C>A	ENST00000317135.8	-	18	1910	c.1880G>T	c.(1879-1881)gGg>gTg	p.G627V	LRCH2_ENST00000538422.1_Missense_Mutation_p.G610V	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	627										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATCTGCTGCCCCATATTCTTG	0.413000													12	8					9.16793e-09	1.02586e-08	1	1	0
P4HB	5034	broad.mit.edu	37	17	79813069	79813069	+	Silent	SNP	G	G	A	rs141223466	by1000genomes	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:79813069G>A	ENST00000331483.4	-	4	795	c.573C>T	c.(571-573)gaC>gaT	p.D191D	P4HB_ENST00000472244.1_5'UTR|P4HB_ENST00000439918.2_Silent_p.D147D|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	191					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			TGGAGAACACGTCACTGTTGG	0.537000													91	219					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54594436	54594436	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:54594436C>T	ENST00000251636.5	-	2	392	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	82							ATP binding|ATP-dependent helicase activity|translation initiation factor activity	p.D82N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATAGATTTATCCAGATTTGCA	0.284000													7	37					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242414	3242414	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:3242414C>G	ENST00000217939.6	-	5	1466	c.1312G>C	c.(1312-1314)Gat>Cat	p.D438H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	438						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGCTGGATATCTATGGATGGC	0.488000													51	30					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140079461	140079461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:140079461C>A	ENST00000323927.2	-	4	956	c.952G>T	c.(952-954)Ggc>Tgc	p.G318C		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	318					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGGGTGTTGCCGGCCTCGGGA	0.667000													4	12					0.014758	0.0149731	1	1	0
TONSL	4796	broad.mit.edu	37	8	145659116	145659116	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:145659116C>T	ENST00000409379.3	-	22	3443	c.3414G>A	c.(3412-3414)atG>atA	p.M1138I		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1138					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCAGGGGGTTCATGCTTAAGT	0.672000													13	42					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208225689	208225689	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:208225689C>G	ENST00000367033.3	-	15	3733	c.2976G>C	c.(2974-2976)caG>caC	p.Q992H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	992	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTCGCAGGTCTGGTTGCCCA	0.537000													22	156					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602292	10602292	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:10602292C>A	ENST00000171111.5	-	3	1833	c.1286G>T	c.(1285-1287)gGc>gTc	p.G429V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G429V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTGGGAGCCGCCGACGGCATA	0.657000													15	26					1.50039e-11	1.72893e-11	1	1	0
ITSN2	50618	broad.mit.edu	37	2	24535184	24535184	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:24535184C>T	ENST00000355123.4	-	5	692	c.249G>A	c.(247-249)atG>atA	p.M83I	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000406921.3_Missense_Mutation_p.M83I|ITSN2_ENST00000361999.3_Missense_Mutation_p.M83I	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	83	EF-hand 1.|EH 1.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGAGTTTCATAGCTATGG	0.438000													43	104					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969349	1969349	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:1969349A>T	ENST00000382722.5	-	19	2264	c.1902T>A	c.(1900-1902)aaT>aaA	p.N634K	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.N609K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.N570K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.N495K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.N634K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.N570K|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	634						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGAAGTAGTCATTGGTCAGGA	0.537000													11	25					0	0	1	0	0
MEIS1	4211	broad.mit.edu	37	2	66691269	66691269	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:66691269C>T	ENST00000488550.1	+	7	958	c.659C>T	c.(658-660)aCg>aTg	p.T220M	MEIS1_ENST00000444274.2_Missense_Mutation_p.T188M|MEIS1_ENST00000560281.2_Missense_Mutation_p.T220M|MEIS1_ENST00000272369.9_Missense_Mutation_p.T220M|MEIS1_ENST00000398506.2_Missense_Mutation_p.T218M|MEIS1_ENST00000407092.2_Missense_Mutation_p.T220M|MEIS1_ENST00000495021.2_Missense_Mutation_p.T155M|MEIS1_ENST00000409517.1_3'UTR			O00470	MEIS1_HUMAN	Meis homeobox 1	220	Ser/Thr-rich.						sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CATGATGACACGGCATCTACT	0.522000													7	14					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897456	153897456	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:153897456G>A	ENST00000511601.1	+	12	3201	c.3013G>A	c.(3013-3015)Gcc>Acc	p.A1005T	FHDC1_ENST00000260008.3_Missense_Mutation_p.A1005T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1005					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACCTGCCGCGCCCACTCCGA	0.622000													15	41					0	0	1	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897886	130897886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:130897886G>A	ENST00000392984.3	-	4	1791	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	CCDC74B_ENST00000409943.3_Nonsense_Mutation_p.Q182*|CCDC74B_ENST00000310463.6_Nonsense_Mutation_p.Q248*			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	248										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGCCTGCCCTGGTGCTGGCTG	0.617000													46	156					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595357	82595357	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:82595357G>A	ENST00000423517.2	-	4	4084	c.3747C>T	c.(3745-3747)ctC>ctT	p.L1249L	PCLO_ENST00000333891.8_Silent_p.L1249L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1188					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						TTGCCTCTGGGAGTAGCTTTT	0.388000													29	98					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75553646	75553646	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:75553646G>A	ENST00000604729.1	+	12	2766	c.2469G>A	c.(2467-2469)acG>acA	p.T823T	ZSWIM8_ENST00000398706.2_Silent_p.T823T|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.T790T|ZSWIM8_ENST00000605216.1_Silent_p.T823T|ZSWIM8_ENST00000604524.1_Silent_p.T823T					zinc finger, SWIM-type containing 8																		AGGTATCCACGAGCCGTCAGA	0.542000													10	24					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131937070	131937070	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:131937070T>G	ENST00000403834.3	-	10	1026	c.853A>C	c.(853-855)Aat>Cat	p.N285H	MED23_ENST00000368058.1_Missense_Mutation_p.N285H|MED23_ENST00000368053.4_Missense_Mutation_p.N285H|MED23_ENST00000354577.4_Missense_Mutation_p.N285H|MED23_ENST00000539158.1_Missense_Mutation_p.N285H|MED23_ENST00000368068.3_Missense_Mutation_p.N285H|MED23_ENST00000540546.1_Missense_Mutation_p.N285H|MED23_ENST00000368060.3_Missense_Mutation_p.N285H			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	285					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTAGCATATTGCAGACCATA	0.358000													19	33					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237060367	237060367	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:237060367C>G	ENST00000366577.5	+	32	4054	c.3660C>G	c.(3658-3660)ttC>ttG	p.F1220L	MTR_ENST00000535889.1_Missense_Mutation_p.F1169L|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1220	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCCTCTACTTCTCCAATTTGA	0.428000													54	240					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138825275	138825275	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:138825275T>C	ENST00000371756.3	-	10	1406	c.1189A>G	c.(1189-1191)Aga>Gga	p.R397G		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	397						Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGAAGATTCTAGAGATCTGC	0.562000													41	112					0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114976307	114976307	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:114976307C>G	ENST00000358465.2	-	5	1055	c.972G>C	c.(970-972)gaG>gaC	p.E324D	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Missense_Mutation_p.E324D	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	324	Necessary for oligomerization.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGTAGATTCTCAATTGCAC	0.308000			T	RET	papillary thyroid								10	50					0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103872	52103872	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:52103872C>T	ENST00000361781.2	-	7	962	c.3G>A	c.(1-3)atG>atA	p.M1I	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Start_Codon_SNP_p.M1I	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	7					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CCACTTCCTTCATTGTACTGG	0.557000													23	93					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46278290	46278290	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:46278290C>G	ENST00000600757.1	-	8	1851	c.1164G>C	c.(1162-1164)gaG>gaC	p.E388D	DMPK_ENST00000354227.5_Missense_Mutation_p.E378D|DMPK_ENST00000343373.4_Missense_Mutation_p.E393D|DMPK_ENST00000447742.2_Missense_Mutation_p.E378D|DMPK_ENST00000595361.1_5'UTR|DMPK_ENST00000458663.2_Missense_Mutation_p.E378D|DMPK_ENST00000291270.4_Missense_Mutation_p.E383D			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	393	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CCGACAGTGTCTCCTGCGCAA	0.592000													11	16					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72014080	72014080	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:72014080C>A	ENST00000378743.3	-	25	5118	c.4760G>T	c.(4759-4761)tGc>tTc	p.C1587F		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1587					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CTCATCTGTGCAAGCTTTCAC	0.413000													20	61					3.83957e-06	4.13675e-06	1	1	0
POGLUT1	56983	broad.mit.edu	37	3	119211176	119211176	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:119211176G>A	ENST00000295588.4	+	11	1154	c.1070G>A	c.(1069-1071)tGt>tAt	p.C357Y		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	357						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						GACATCACCTGTTACTGGGAG	0.338000													43	66					0	0	1	0	0
CERS2	29956	broad.mit.edu	37	1	150938988	150938988	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:150938988G>A	ENST00000271688.6	-	10	1352	c.966C>T	c.(964-966)ctC>ctT	p.L322L	CERS2_ENST00000368954.5_Silent_p.L322L|CERS2_ENST00000345896.4_5'UTR|CERS2_ENST00000561294.1_Silent_p.L313L	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	322	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGCGCAAAATGAGGTAGGCCC	0.478000													16	80					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197298070	197298070	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:197298070A>G	ENST00000367400.3	+	2	724	c.589A>G	c.(589-591)Aac>Gac	p.N197D	CRB1_ENST00000538660.1_Missense_Mutation_p.N197D|CRB1_ENST00000535699.1_Missense_Mutation_p.N128D|CRB1_ENST00000367399.2_Missense_Mutation_p.N197D	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	197	EGF-like 5; calcium-binding (Potential).				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						TCCCTGCAAGAACGAGGCTAC	0.443000													20	61					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049030	42049030	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:42049030T>A	ENST00000372584.1	-	3	2453	c.1439A>T	c.(1438-1440)gAg>gTg	p.E480V	HIVEP3_ENST00000372583.1_Missense_Mutation_p.E480V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E480V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E480V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	480	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGTCGATCTCGCTGGTGTC	0.612000													28	63					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017201	1017201	+	Missense_Mutation	SNP	G	G	T	rs71472140		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:1017201G>T	ENST00000421673.2	-	31	5650	c.5600C>A	c.(5599-5601)gCc>gAc	p.A1867D		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1867	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGATGGAGGCAGAAGTGGC	0.567000													16	567					3.6622e-26	4.72017e-26	1	1	0
TREML2	79865	broad.mit.edu	37	6	41168825	41168825	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:41168825C>A	ENST00000483722.1	-	0	107					NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2						T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACCTGGGCCTGCCAGGGAA	0.627000													13	69					9.31168e-06	1.00014e-05	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15614331	15614331	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:15614331A>T	ENST00000378076.3	-	25	2869	c.2516T>A	c.(2515-2517)aTc>aAc	p.I839N		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	839					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACCTCCAGGATGGTGTCACT	0.448000													26	88					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027963	92027963	+	Silent	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:92027963A>T	ENST00000265742.3	+	20	3346	c.2970A>T	c.(2968-2970)ccA>ccT	p.P990P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	990							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGATTCCTCCAGCAACTACAG	0.488000													30	88					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67781757	67781757	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:67781757C>G	ENST00000255674.6	-	27	3893	c.3607G>C	c.(3607-3609)Gtc>Ctc	p.V1203L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.V1203L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1203							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)				TGTTGCCTGACAGCAGTCCGG	0.398000													40	113					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261987	1261987	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:1261987C>T	ENST00000348261.5	+	25	4856	c.4608C>T	c.(4606-4608)atC>atT	p.I1536I	CACNA1H_ENST00000358590.4_Silent_p.I1536I|CACNA1H_ENST00000565831.1_Silent_p.I1536I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1536					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTACTTCATCTCCTTCCTGC	0.642000													92	289					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132869785	132869785	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:132869785C>T	ENST00000372406.1	+	14	1780	c.1273C>T	c.(1273-1275)Cat>Tat	p.H425Y	GPR107_ENST00000347136.6_Missense_Mutation_p.H425Y|GPR107_ENST00000372410.3_Missense_Mutation_p.H425Y	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	425						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GTCAATCAGACATTTACAAGA	0.428000											OREG0019542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	55					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69973850	69973850	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:69973850C>A	ENST00000305231.7	+	5	1166	c.1120C>A	c.(1120-1122)Cat>Aat	p.H374N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	374					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTATAACTCATGGTGGAGC	0.413000													45	116					1.67886e-27	2.17191e-27	1	1	0
EPHX3	79852	broad.mit.edu	37	19	15338810	15338810	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:15338810G>A	ENST00000221730.3	-	5	938	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	EPHX3_ENST00000602233.1_Nonsense_Mutation_p.Q240*|EPHX3_ENST00000435261.1_Nonsense_Mutation_p.Q240*	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	240						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CTCTGTACCTGAAAGTCAGAC	0.572000													22	33					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404790	104404790	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:104404790A>T	ENST00000302424.6	+	1	538	c.416A>T	c.(415-417)gAc>gTc	p.D139V		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	139						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAGGCGGACGACGTGCGGGCC	0.716000													5	8					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802379	45802379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:45802379C>T	ENST00000357450.4	-	4	576	c.577G>A	c.(577-579)Gcg>Acg	p.A193T	SMC1B_ENST00000404354.3_Missense_Mutation_p.A193T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	193					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGCTCTGCCGCTATATTTTTT	0.338000													7	38					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176562677	176562677	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:176562677C>T	ENST00000439151.2	+	2	618	c.573C>T	c.(571-573)gcC>gcT	p.A191A	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000361032.4_Silent_p.A191A|NSD1_ENST00000511258.1_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	191					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGACCAATGCCACCTGCAATT	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			36	116					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370452	97370452	+	RNA	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:97370452C>A	ENST00000457909.1	+	0	5700							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GCCTGGCTTTCCTCCTGCTAC	0.478000													8	15					3.86212e-05	4.06048e-05	1	1	0
NID2	22795	broad.mit.edu	37	14	52481083	52481083	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:52481083C>T	ENST00000216286.5	-	16	3341	c.3342G>A	c.(3340-3342)caG>caA	p.Q1114Q	NID2_ENST00000541773.1_Silent_p.Q1013Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1114						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGCTGGCCCTGAGTATAGA	0.582000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	128					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451431	25451431	+	RNA	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:25451431A>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1																						AGAACCTTATATTGTCCTGAA	0.493000													122	324					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30113867	30113867	+	Splice_Site	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:30113867G>T	ENST00000396581.1	+	3	827		c.e3+1		TRIM40_ENST00000307859.4_Splice_Site|TRIM40_ENST00000376724.2_Splice_Site			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40							intracellular	zinc ion binding			ovary(1)	1						GGCTCTGCAGGTGGGTTTTTC	0.532000													16	14					1.33834e-09	1.52203e-09	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41266113	41266113	+	Missense_Mutation	SNP	C	C	T	rs121913416		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:41266113C>T	ENST00000349496.5	+	3	390	c.110C>T	c.(109-111)tCt>tTt	p.S37F	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37F(172)|p.S37C(141)|p.A5_A80del(53)|p.S37Y(31)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGAATCCATTCTGGTGCCACT	0.498000	S37C(JHUEM2_ENDOMETRIUM)|S37C(SNU398_LIVER)|S37F(HUTU80_SMALL_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				7	38					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71489974	71489974	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:71489974T>G	ENST00000296755.7	+	5	1090	c.792T>G	c.(790-792)atT>atG	p.I264M		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	264						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GCTGTTATATTTTTCCAGGAG	0.478000													27	80					0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50138915	50138915	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:50138915G>A	ENST00000299192.7	+	15	2177	c.1986G>A	c.(1984-1986)atG>atA	p.M662I	HEATR3_ENST00000285767.4_Missense_Mutation_p.M576I|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	662							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATGTGAAAATGAATTTGCGAA	0.333000													25	91					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56480402	56480402	+	Missense_Mutation	SNP	G	G	C	rs139542888	by1000genomes	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:56480402G>C	ENST00000267101.3	+	4	949	c.509G>C	c.(508-510)cGa>cCa	p.R170P	ERBB3_ENST00000415288.2_Missense_Mutation_p.R111P|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	170					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTGAGGGACCGAGATGCTGAG	0.493000													43	209					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136900	55136900	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:55136900G>C	ENST00000257290.5	+	8	1553	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	408	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTATACTTTTGAACTGTTAAC	0.408000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			13	40					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66274043	66274043	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:66274043C>T	ENST00000380828.2	+	11	1522	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	KCTD7_ENST00000451741.2_Silent_p.L416L|KCTD7_ENST00000510829.2_Silent_p.L416L|RABGEF1_ENST00000439720.2_Silent_p.L429L|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Silent_p.L430L|RABGEF1_ENST00000284957.5_Silent_p.L416L|RABGEF1_ENST00000450873.2_Silent_p.L416L			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						ACTTGGATCTCTTGTCTCAGT	0.443000													10	21					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36387393	36387393	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:36387393C>T	ENST00000396901.1	-	7	879	c.306G>A	c.(304-306)gaG>gaA	p.E102E	NFKBID_ENST00000352614.2_Silent_p.E254E|NFKBID_ENST00000606253.1_Silent_p.E102E	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	102					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCAACAGATCCTCCACAATCA	0.622000													33	49					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156535950	156535950	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:156535950C>A	ENST00000307851.4	-	1	775	c.45G>T	c.(43-45)ctG>ctT	p.L15L	HAVCR2_ENST00000522593.1_Silent_p.L15L|CTB-120L21.1_ENST00000517708.1_RNA	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	15						integral to membrane		p.L18delL(1)|p.L15L(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAAGTAGTAGCAGCAGCAGCA	0.443000													25	71					9.04072e-19	1.11566e-18	1	1	0
CARF	79800	broad.mit.edu	37	2	203834763	203834763	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:203834763G>T	ENST00000320443.8	+	10	2118	c.1075G>T	c.(1075-1077)Gta>Tta	p.V359L	CARF_ENST00000438828.2_Missense_Mutation_p.V359L|CARF_ENST00000428585.1_Missense_Mutation_p.V283L|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545253.1_Missense_Mutation_p.V271L|CARF_ENST00000545262.1_Missense_Mutation_p.V283L|CARF_ENST00000402905.2_Missense_Mutation_p.V359L|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.V257L					calcium responsive transcription factor																		GAAGAACTTGGTAGATGCTGG	0.313000													16	40					3.5997e-14	4.24642e-14	1	1	0
KCNAB1	7881	broad.mit.edu	37	3	155861079	155861079	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:155861079C>T	ENST00000471742.1	+	1	329	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	0						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACCAAGACTCAGCCTCAGGC	0.517000													23	43					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947147	101947147	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:101947147C>T	ENST00000394854.3	-	14	2124	c.1441G>A	c.(1441-1443)Gag>Aag	p.E481K	PPP3CA_ENST00000523694.2_Missense_Mutation_p.E414K|PPP3CA_ENST00000507176.1_Missense_Mutation_p.E383K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E471K|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E249K|PPP3CA_ENST00000323055.6_Missense_Mutation_p.E429K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	481	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GGCATCCTCTCATTAATTCGG	0.458000													22	103					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697420	48697420	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:48697420G>C	ENST00000544264.1	-	1	2928	c.2648C>G	c.(2647-2649)tCt>tGt	p.S883C	CELSR3_ENST00000164024.4_Missense_Mutation_p.S883C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	883	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAtcatcagaggcactgat	0.517000													8	30					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42178287	42178287	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:42178287T>C	ENST00000520810.1	+	16	1799	c.1613T>C	c.(1612-1614)aTg>aCg	p.M538T	IKBKB_ENST00000379708.3_Missense_Mutation_p.M315T|IKBKB_ENST00000416505.2_Missense_Mutation_p.M479T|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.M536T	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	538					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAACGGATGATGGCTCTGCAG	0.567000													25	111					0	0	1	0	0
MTHFR	4524	broad.mit.edu	37	1	11850742	11850742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:11850742G>A	ENST00000376592.1	-	11	2094	c.1966C>T	c.(1966-1968)Cca>Tca	p.P656S	MTHFR_ENST00000376590.3_Missense_Mutation_p.P656S|MTHFR_ENST00000376585.1_Missense_Mutation_p.P697S|MTHFR_ENST00000376583.3_Missense_Mutation_p.P697S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	656					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CAGGGTCATGGAGCCTCCGTT	0.592000													6	9					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21423997	21423997	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:21423997G>T	ENST00000304625.2	+	2	157	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	23					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGGAGGGCTCACTCCA	0.463000													11	47					2.32078e-09	2.63073e-09	1	1	0
KDM7A	80853	broad.mit.edu	37	7	139791643	139791643	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:139791643C>A	ENST00000397560.2	-	19	2789	c.2692G>T	c.(2692-2694)Gca>Tca	p.A898S		NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		898					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					GGATTTGATGCCGGTCTCTTG	0.488000													36	146					3.68337e-26	4.72994e-26	1	1	0
ZBTB5	9925	broad.mit.edu	37	9	37441498	37441498	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:37441498C>G	ENST00000307750.4	-	2	1239	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TCGCTGCCTTCTGCTTGTGAG	0.537000													20	63					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139137425	139137425	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:139137425G>A	ENST00000358701.5	-	1	262	c.225C>T	c.(223-225)acC>acT	p.T75T		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	75	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		AGCTGTTGGCGGTGGCCCCGC	0.766000													11	22					0	0	1	0	0
ARL14	80117	broad.mit.edu	37	3	160395202	160395202	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:160395202C>G	ENST00000320767.2	+	1	255	c.68C>G	c.(67-69)tCa>tGa	p.S23*		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	23					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GGACTTGACTCAGCTGGGAAG	0.413000													28	34					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049823	38049823	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:38049823C>A	ENST00000463876.1	-	13	2354	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	PLCD1_ENST00000334661.4_Missense_Mutation_p.K646N	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	646	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATTCTTATTCTTGTTGACTT	0.552000													16	51					1.64113e-05	1.75189e-05	1	1	0
MEI1	150365	broad.mit.edu	37	22	42174743	42174743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:42174743C>A	ENST00000540880.1	+	6	948	c.715C>A	c.(715-717)Cct>Act	p.P239T	MEI1_ENST00000401548.3_Silent_p.L914L|MEI1_ENST00000400107.1_Intron|MEI1_ENST00000300398.4_5'UTR			Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	927							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCTGAGCCTCCTCTCCCTGA	0.582000													6	15					0.00307968	0.00315214	1	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140739	143140739	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:143140739C>G	ENST00000332690.1	+	1	194	c.194C>G	c.(193-195)tCt>tGt	p.S65C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	65					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CTAGGGGCCTCTCGCTTCTGT	0.493000													24	64					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48491562	48491562	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:48491562G>C	ENST00000412052.1	+	2	550	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000320211.3_Missense_Mutation_p.E123Q|ATRIP_ENST00000346691.4_Missense_Mutation_p.E123Q	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	123					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAATACAAAGAACTTAAAGA	0.303000								Other conserved DNA damage response genes					15	40					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456765	5456765	+	Silent	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:5456765A>G	ENST00000345221.3	-	5	3023	c.2469T>C	c.(2467-2469)tcT>tcC	p.S823S	NLRP1_ENST00000577119.1_Silent_p.S823S|NLRP1_ENST00000572272.1_Silent_p.S823S|NLRP1_ENST00000262467.5_Silent_p.S823S|NLRP1_ENST00000354411.3_Silent_p.S823S|NLRP1_ENST00000269280.4_Silent_p.S823S|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	823					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCTTCACTGCAGAGTGGCTCA	0.562000													15	10					0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165183039	165183039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:165183039C>A	ENST00000342310.3	-	5	890	c.508G>T	c.(508-510)Gat>Tat	p.D170Y	LMX1A_ENST00000294816.2_Missense_Mutation_p.D170Y|LMX1A_ENST00000367893.4_Missense_Mutation_p.D170Y	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTTTCTTCATCATCACTTTTA	0.498000													71	85					5.72486e-32	7.63315e-32	1	1	0
MATK	4145	broad.mit.edu	37	19	3783906	3783906	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:3783906C>A	ENST00000310132.6	-	6	886	c.488G>T	c.(487-489)gGc>gTc	p.G163V	MATK_ENST00000585778.1_Missense_Mutation_p.G163V|MATK_ENST00000395040.2_Missense_Mutation_p.G122V|MATK_ENST00000395045.2_Missense_Mutation_p.G164V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	163	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGTCGCGGCCAAAGCTCAC	0.657000													19	42					3.10358e-05	3.30289e-05	1	1	0
EPHA6	285220	broad.mit.edu	37	3	97356779	97356779	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:97356779C>A	ENST00000389672.5	+	14	2675	c.2637C>A	c.(2635-2637)ggC>ggA	p.G879G	EPHA6_ENST00000514100.1_Silent_p.G271G|EPHA6_ENST00000442602.2_3'UTR|EPHA6_ENST00000502694.1_Silent_p.G271G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	784	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCATCAGGCATGAAGTATC	0.413000													57	190					9.42754e-34	1.26184e-33	1	1	0
GPR176	11245	broad.mit.edu	37	15	40093671	40093671	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:40093671C>A	ENST00000299092.3	-	4	1405	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	GPR176_ENST00000543580.1_Nonsense_Mutation_p.E359*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.E404*	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	404					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTAAATATCTCCTTGGCCTGG	0.582000													62	201					4.49761e-31	5.97393e-31	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134312026	134312026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:134312026C>T	ENST00000357304.4	+	3	368	c.313C>T	c.(313-315)Cag>Tag	p.Q105*	PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.Q105*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.Q105*	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	105							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACGGCCTCTCAGCCGCCGGA	0.617000													49	123					0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131271318	131271318	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:131271318C>T	ENST00000309971.4	+	2	369	c.263C>T	c.(262-264)tCt>tTt	p.S88F	GLE1_ENST00000539582.1_5'UTR|GLE1_ENST00000372770.4_Missense_Mutation_p.S88F	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	88					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						GTTCCCAAATCTCCTGACGCA	0.517000													23	72					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20748340	20748340	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:20748340C>T	ENST00000381337.2	-	4	1268	c.924G>A	c.(922-924)caG>caA	p.Q308Q	THUMPD1_ENST00000396083.2_Silent_p.Q308Q|THUMPD1_ENST00000431224.2_Silent_p.Q394Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	308										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						TCTCTGGTACCTGCTGGTTAT	0.463000													35	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	38					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76239468	76239468	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:76239468G>A	ENST00000529032.1	+	13	2152	c.2152G>A	c.(2152-2154)Gat>Aat	p.D718N	C11orf30_ENST00000524767.1_Missense_Mutation_p.D733N|C11orf30_ENST00000343878.3_Missense_Mutation_p.D718N|C11orf30_ENST00000533248.1_Missense_Mutation_p.D732N|C11orf30_ENST00000525919.1_Missense_Mutation_p.D719N|C11orf30_ENST00000524490.1_Missense_Mutation_p.D634N|C11orf30_ENST00000334736.3_Missense_Mutation_p.D718N|C11orf30_ENST00000525038.1_Missense_Mutation_p.D733N			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	718					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAATTATACAGATAGTAGTTC	0.388000													30	81					0	0	1	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040815	23040815	+	RNA	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:23040815C>G	ENST00000390306.2	+	0	425																											GGCTCCAAGTCTGGCAACACG	0.542000													61	166					0	0	1	0	0
S100A8	6279	broad.mit.edu	37	1	153362696	153362696	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:153362696G>A	ENST00000368733.3	-	3	334	c.165C>T	c.(163-165)ttC>ttT	p.F55F	S100A8_ENST00000368732.1_Silent_p.F55F|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	55	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCTTTGAACCAGACGT	0.468000													30	153					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20555556	20555556	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:20555556T>C	ENST00000504154.1	+	26	2942	c.2690T>C	c.(2689-2691)tTa>tCa	p.L897S	SLIT2_ENST00000503823.1_Missense_Mutation_p.L889S|SLIT2_ENST00000273739.5_Missense_Mutation_p.L901S|SLIT2_ENST00000503837.1_Missense_Mutation_p.L893S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	897	LRRCT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATAAACTTTTACTCACAACT	0.358000													38	89					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151443	158151443	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:158151443T>C	ENST00000368171.3	+	3	759	c.260T>C	c.(259-261)aTa>aCa	p.I87T		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	87					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CTGCAGCATATATTTCGGGTT	0.572000													43	81					0	0	1	0	0
FKBP9	11328	broad.mit.edu	37	7	33014296	33014296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:33014296G>T	ENST00000242209.4	+	2	458	c.289G>T	c.(289-291)Gct>Tct	p.A97S	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.A150S	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	97	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GATGGACCAGGCTCTTGTTGG	0.468000													25	173					1.36615e-20	1.71014e-20	1	1	0
FOLR3	2352	broad.mit.edu	37	11	71847043	71847043	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:71847043G>A	ENST00000445078.2	+	2	110	c.39G>A	c.(37-39)ttG>ttA	p.L13L	FOLR3_ENST00000442948.2_Silent_p.L15L|FOLR3_ENST00000456237.1_Silent_p.L15L			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	13					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TTCTGGCTTTGGTGACTGCTG	0.612000													69	217					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100900820	100900820	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:100900820G>A	ENST00000393437.3	-	12	2844	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	LONRF2_ENST00000409647.1_Silent_p.I492I	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	735	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TACGCGTGATGATGACTAATA	0.537000													5	11					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91389530	91389530	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:91389530G>A	ENST00000261991.3	-	6	802	c.629C>T	c.(628-630)gCa>gTa	p.A210V	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.A210V|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.A131V	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	210	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AAAGGAATATGCTCTTTCAGT	0.348000													8	89					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43233241	43233241	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:43233241C>T	ENST00000372525.5	+	2	184	c.141C>T	c.(139-141)acC>acT	p.T47T	C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	47										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTACCACACCCACCGGGCCG	0.692000													3	21					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54285747	54285747	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:54285747C>G	ENST00000354646.2	-	11	2500	c.2062G>C	c.(2062-2064)Gaa>Caa	p.E688Q	WNK3_ENST00000375159.2_Missense_Mutation_p.E688Q|WNK3_ENST00000375169.3_Missense_Mutation_p.E688Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	688					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCTTGTTGTTCAGCTCCAACT	0.338000													16	14					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18907093	18907093	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:18907093G>A	ENST00000388995.6	-	2	485	c.262C>T	c.(262-264)Cag>Tag	p.Q88*	SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Nonsense_Mutation_p.Q88*|FAM83G_ENST00000345041.4_Nonsense_Mutation_p.Q88*|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	88										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCGGGCCCCTGAGAGGGGCCC	0.701000													5	15					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79432583	79432583	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:79432583G>T	ENST00000554719.1	+	9	1983	c.1492G>T	c.(1492-1494)Gac>Tac	p.D498Y	NRXN3_ENST00000335750.5_Missense_Mutation_p.D498Y	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATCATCGCTGACCCTGTCAC	0.478000													23	53					2.27525e-19	2.83795e-19	1	1	0
APOB	338	broad.mit.edu	37	2	21227217	21227217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:21227217G>T	ENST00000233242.1	-	28	12138	c.12011C>A	c.(12010-12012)cCa>cAa	p.P4004Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4004					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCTACGGCTGGGGAGGCTGC	0.498000													8	34					4.3838e-07	4.82773e-07	1	1	0
CFB	629	broad.mit.edu	37	6	31914934	31914934	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:31914934G>A	ENST00000556679.1	+	15	2010	c.1955G>A	c.(1954-1956)cGa>cAa	p.R652Q	CFB_ENST00000425368.2_Missense_Mutation_p.R150Q|CFB_ENST00000456570.1_Missense_Mutation_p.R652Q|CFB_ENST00000477310.1_Missense_Mutation_p.R501Q			P00751	CFAB_HUMAN	complement factor B	150	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTGAATGGCCGATGGAGTGGG	0.587000													36	135					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	31498176	31498176	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:31498176T>C	ENST00000520407.1	+	1	906	c.676T>C	c.(676-678)Tct>Cct	p.S226P	NRG1_ENST00000519301.1_Intron	NM_013962.2	NP_039256.2	Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTTCCGAGCCTCTTTCCCCCC	0.672000													7	12					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114151989	114151989	+	Silent	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:114151989A>T	ENST00000259335.4	-	32	3827	c.3828T>A	c.(3826-3828)ggT>ggA	p.G1276G	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Silent_p.G1098G	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTACATTAAAACCAAAAGCAG	0.413000													13	19					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370489	240370489	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:240370489C>T	ENST00000319653.9	+	5	2607	c.2377C>T	c.(2377-2379)Cga>Tga	p.R793*		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	793	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTCTCCAAGGCGAATATCAGT	0.572000													19	96					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19295165	19295165	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:19295165C>A	ENST00000328405.2	+	2	362	c.96C>A	c.(94-96)gcC>gcA	p.A32A		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	32	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCATCCTTGCCAATGCCCAGG	0.423000													35	93					4.16155e-14	4.89263e-14	1	1	0
TEX14	56155	broad.mit.edu	37	17	56676546	56676546	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:56676546G>T	ENST00000389934.3	-	14	2277	c.2160C>A	c.(2158-2160)tcC>tcA	p.S720S	TEX14_ENST00000349033.5_Silent_p.S720S|TEX14_ENST00000240361.8_Silent_p.S726S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	726						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCAGTCGTGGACATGTTGT	0.443000													88	260					2.34315e-34	3.14833e-34	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3085579	3085579	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:3085579G>C	ENST00000259808.4	+	6	1073	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.E213Q|RIPK1_ENST00000380409.2_Missense_Mutation_p.E259Q			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	259	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CTGCCCAAGAGAAATTATCAG	0.463000													46	63					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654855	15654855	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:15654855C>G	ENST00000281171.4	+	5	1293	c.963C>G	c.(961-963)taC>taG	p.Y321*	PTPRO_ENST00000348962.2_Nonsense_Mutation_p.Y321*|PTPRO_ENST00000543886.1_Nonsense_Mutation_p.Y321*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	321						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448000													17	38					0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76203046	76203046	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:76203046C>T	ENST00000591952.1	+	3	218	c.209C>T	c.(208-210)aCg>aTg	p.T70M	AFMID_ENST00000327898.5_3'UTR|AFMID_ENST00000409257.5_3'UTR|AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_3'UTR			Q63HM1	AFMID_HUMAN	arylformamidase	0						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GCCTGGTCCACGTGCATCCCA	0.512000													18	40					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40093672	40093672	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:40093672C>A	ENST00000299092.3	-	4	1404	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	GPR176_ENST00000543580.1_Missense_Mutation_p.K358N|GPR176_ENST00000561100.1_Missense_Mutation_p.K403N	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	403					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TAAATATCTCCTTGGCCTGGA	0.577000													64	201					2.43199e-30	3.21799e-30	1	1	0
EVX1	2128	broad.mit.edu	37	7	27285816	27285816	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:27285816C>A	ENST00000496902.4	+	3	1482	c.996C>A	c.(994-996)taC>taA	p.Y332*	EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR|EVX1_ENST00000535619.1_Nonsense_Mutation_p.Y150*			P49640	EVX1_HUMAN	even-skipped homeobox 1	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGCCGCTCTACCCCGGGCCCG	0.781000													3	5					8.12818e-05	8.49432e-05	1	1	0
CPNE5	57699	broad.mit.edu	37	6	36712921	36712921	+	Silent	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:36712921T>A	ENST00000244751.2	-	18	1959	c.1335A>T	c.(1333-1335)gcA>gcT	p.A445A	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.A153A	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	445	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCACGGCCGCTGCATTCCTGG	0.592000													45	34					0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225142701	225142701	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:225142701C>G	ENST00000430092.1	+	3	333	c.118C>G	c.(118-120)Cca>Gca	p.P40A	DNAH14_ENST00000439375.2_Missense_Mutation_p.P40A|DNAH14_ENST00000400952.3_Missense_Mutation_p.P40A|DNAH14_ENST00000366849.1_Missense_Mutation_p.P40A|DNAH14_ENST00000366850.3_Missense_Mutation_p.P40A|DNAH14_ENST00000366848.1_Missense_Mutation_p.P40A|DNAH14_ENST00000498360.1_3'UTR	NM_001373.1	NP_001364.1	Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	217					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity	p.P217S(1)|p.P40S(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						AGATGTGAAACCATTAGAGAC	0.294000													20	65					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801719	148801719	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:148801719G>A	ENST00000378061.2	-	4	1376	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	415					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTCGGGACACGAAAAGGGCTT	0.532000													20	74					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38049820	38049820	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:38049820A>C	ENST00000463876.1	-	13	2357	c.2004T>G	c.(2002-2004)aaT>aaG	p.N668K	PLCD1_ENST00000334661.4_Missense_Mutation_p.N647K	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	647	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TTGAATTCTTATTCTTGTTGA	0.552000													18	45					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84559421	84559421	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:84559421G>A	ENST00000262753.4	-	14	1639	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D	POF1B_ENST00000373145.3_Silent_p.D498D	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	498							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TAAATTGGAAGTCACTACAAC	0.358000													25	15					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281760	129281760	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:129281760G>A	ENST00000287295.3	-	4	671	c.441C>T	c.(439-441)gcC>gcT	p.A147A	AIFM1_ENST00000319908.3_Silent_p.A143A|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Silent_p.A60A	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	147	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GGATGGATCTGGCTGCAGCAA	0.517000													47	61					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040594	147040594	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:147040594C>A	ENST00000265272.5	-	3	1011	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.G182W|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.G140W	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	182						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAGGTCCCCAGCCTTGATT	0.522000													40	128					1.7489e-18	2.1506e-18	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158604466	158604466	+	Splice_Site	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:158604466C>G	ENST00000368148.3	-	39	5613		c.e39-1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTAAGTCCTCTATAACAAGG	0.458000													15	58					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110399099	110399099	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:110399099G>A	ENST00000360185.4	-	11	1135	c.971C>T	c.(970-972)tCa>tTa	p.S324L	GIT2_ENST00000361006.5_Missense_Mutation_p.S324L|GIT2_ENST00000553118.1_Missense_Mutation_p.S324L|GIT2_ENST00000356259.4_Missense_Mutation_p.S324L|GIT2_ENST00000354574.4_Missense_Mutation_p.S326L|GIT2_ENST00000338373.5_Missense_Mutation_p.S324L|GIT2_ENST00000320063.9_Missense_Mutation_p.S324L|GIT2_ENST00000355312.3_Missense_Mutation_p.S324L|GIT2_ENST00000551209.1_Missense_Mutation_p.S323L|GIT2_ENST00000343646.5_Missense_Mutation_p.S324L|GIT2_ENST00000547815.1_Missense_Mutation_p.S324L|GIT2_ENST00000457474.2_Missense_Mutation_p.S326L|TCHP_ENST00000550780.1_Intron			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	324					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TCGTGTTGATGAGTACTCAGG	0.478000													18	34					0	0	1	0	0
UCHL1	7345	broad.mit.edu	37	4	41266139	41266139	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:41266139G>A	ENST00000284440.4	+	8	690	c.546G>A	c.(544-546)ccG>ccA	p.P182P	UCHL1_ENST00000508768.1_Silent_p.P166P|UCHL1_ENST00000503431.1_Silent_p.P182P|UCHL1_ENST00000512788.1_Silent_p.P182P	NM_004181.4	NP_004172.2	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)	182					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2)	8						TGCCTTTTCCGGTGAACCATG	0.443000													39	141					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66033295	66033295	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:66033295G>A	ENST00000537025.2	+	2	667	c.47G>A	c.(46-48)aGa>aAa	p.R16K	KPNA2_ENST00000330459.3_Missense_Mutation_p.R16K			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	16	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGTCTTCACAGATTCAAGAAC	0.428000													73	180					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14901918	14901918	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:14901918T>A	ENST00000334636.5	-	3	810	c.764A>T	c.(763-765)gAt>gTt	p.D255V	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_Intron	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	255					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	GGAGAGAAAATCATAGACTAC	0.408000													11	26					0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767011	20767011	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:20767011G>C	ENST00000258821.3	-	5	640	c.584C>G	c.(583-585)tCt>tGt	p.S195C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	195					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTGGCCAGTAGAGAAGTAAAG	0.423000													11	37					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6416554	6416554	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:6416554C>G	ENST00000398148.3	-	14	1527	c.1435G>C	c.(1435-1437)Ggt>Cgt	p.G479R		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	479	Gly-rich.|KH 4.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGGTGAACCCCGGATGATG	0.582000													17	16					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865647	19865647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:19865647C>A	ENST00000535882.1	-	16	1407	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	TXNRD2_ENST00000542719.1_Missense_Mutation_p.G441C|TXNRD2_ENST00000400521.1_Missense_Mutation_p.G471C|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G441C|TXNRD2_ENST00000400525.1_Missense_Mutation_p.G448C|TXNRD2_ENST00000400519.1_Missense_Mutation_p.G470C			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	471					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GTAACTTCGCCTGCGTTGGGG	0.612000													15	33					1.56452e-12	1.80882e-12	1	1	0
MYOF	26509	broad.mit.edu	37	10	95107421	95107421	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:95107421C>A	ENST00000371501.4	-	37	4324	c.4202G>T	c.(4201-4203)cGc>cTc	p.R1401L	MYOF_ENST00000358334.5_Missense_Mutation_p.R1388L|MYOF_ENST00000371502.4_Missense_Mutation_p.R1401L|MYOF_ENST00000359263.4_Missense_Mutation_p.R1401L			Q9NZM1	MYOF_HUMAN	myoferlin	1401					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGGGTCACAGCGAAAGCGGTC	0.527000													10	29					2.27111e-07	2.50904e-07	1	1	0
ATP6V1D	51382	broad.mit.edu	37	14	67817333	67817333	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:67817333G>C	ENST00000216442.7	-	3	784	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ATP6V1D_ENST00000555474.1_Intron|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.D23E|ATP6V1D_ENST00000554236.1_Missense_Mutation_p.D78E	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	78					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		CTTACCTGAAGTCACCTGCTG	0.383000													20	61					0	0	1	0	0
LONRF2	164832	broad.mit.edu	37	2	100916266	100916266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:100916266C>A	ENST00000393437.3	-	5	1819	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	LONRF2_ENST00000409647.1_Missense_Mutation_p.A151S	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	394					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GCGCTGGGTGCTGTTGGAAGG	0.443000													16	55					1.28384e-07	1.42285e-07	1	1	0
ARPP19	10776	broad.mit.edu	37	15	52844200	52844200	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:52844200G>A	ENST00000566423.1	-	4	403	c.270C>T	c.(268-270)gaC>gaT	p.D90D	ARPP19_ENST00000561971.1_Silent_p.D109D|ARPP19_ENST00000564163.1_Silent_p.D109D|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000567669.1_Silent_p.D90D|ARPP19_ENST00000561650.1_Silent_p.D74D|ARPP19_ENST00000569723.1_Silent_p.D49D|ARPP19_ENST00000563277.1_Silent_p.D74D|ARPP19_ENST00000568196.1_Silent_p.D74D|ARPP19_ENST00000249822.4_Silent_p.D90D|ARPP19_ENST00000563566.1_Silent_p.D74D|ARPP19_ENST00000569281.2_Silent_p.D90D			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	90					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of gluconeogenesis|positive regulation of glucose import	cytoplasm	potassium channel regulator activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TGGGAATGTGGTCACCAGTGA	0.468000													27	113					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148562525	148562525	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:148562525C>A	ENST00000491148.1	+	9	1083	c.749C>A	c.(748-750)cCc>cAc	p.P250H	CPB1_ENST00000282957.4_Missense_Mutation_p.P250H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	250					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.P250H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGCACAGACCCCAACAGAAAT	0.403000													28	126					1.32136e-16	1.6022e-16	1	1	0
FBXO3	26273	broad.mit.edu	37	11	33763479	33763479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:33763479C>A	ENST00000526785.1	-	10	4803	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.R464I|FBXO3_ENST00000532057.1_Missense_Mutation_p.R151I|FBXO3_ENST00000531080.1_Missense_Mutation_p.R151I			Q9UK99	FBX3_HUMAN	F-box protein 3	464	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GCAGCGGCGTCTGCGAATGGG	0.433000													26	59					8.16721e-17	9.93772e-17	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587000													71	118					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30410369	30410369	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:30410369G>C	ENST00000320159.2	+	2	2174	c.1798G>C	c.(1798-1800)Ggg>Cgg	p.G600R		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GACGCCCTTTGGGATAGGGGA	0.622000													6	136					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134851714	134851714	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:134851714G>A	ENST00000398015.3	+	5	1490	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	374	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCCCGCTGTGACGACAATGT	0.622000													30	45					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280539	152280539	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:152280539A>G	ENST00000368799.1	-	3	6858	c.6823T>C	c.(6823-6825)Tca>Cca	p.S2275P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2275	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATCTCTTGACTGCTCCTGA	0.557000									Ichthyosis				40	461					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72975136	72975136	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:72975136C>T	ENST00000262209.4	-	6	912	c.705G>A	c.(703-705)atG>atA	p.M235I		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	235						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCCCATTATTCATAAAGTTAA	0.393000													17	65					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329840	125329840	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:125329840C>T	ENST00000304865.2	-	1	998	c.917G>A	c.(916-918)aGc>aAc	p.S306N		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATCTCTTGCTCATAAGCTT	0.433000													33	101					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934621	4934621	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:4934621C>T	ENST00000345988.2	-	22	4124	c.4035G>A	c.(4033-4035)cgG>cgA	p.R1345R	PPL_ENST00000590782.2_Silent_p.R1343R	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1345					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TTTCCTTCACCCGCGAGAGCT	0.612000													9	345					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107979316	107979316	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:107979316C>T	ENST00000370068.1	+	7	2131	c.1285C>T	c.(1285-1287)Cat>Tat	p.H429Y	NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.H429Y|NTNG1_ENST00000370073.2_Missense_Mutation_p.H429Y|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370061.3_Missense_Mutation_p.H395Y|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370067.1_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	429	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGGCTCAATCCATGATCGTTG	0.478000													14	40					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757974	87757974	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:87757974G>A	ENST00000398204.4	+	9	1059	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	ADAM22_ENST00000398209.3_Missense_Mutation_p.V246M|ADAM22_ENST00000315984.7_Missense_Mutation_p.V246M|ADAM22_ENST00000398201.4_Missense_Mutation_p.V246M|ADAM22_ENST00000265727.7_Missense_Mutation_p.V246M|ADAM22_ENST00000439864.1_Missense_Mutation_p.V246M	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	246	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACTGATGATTGTGAATGATCA	0.373000													35	103					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176311087	176311087	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:176311087C>A	ENST00000292432.5	-	14	1997	c.1906G>T	c.(1906-1908)Ggc>Tgc	p.G636C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	636	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACATCTTGGCCCTCGCAGTCT	0.612000													32	141					5.44703e-19	6.76988e-19	1	1	0
SLC5A7	60482	broad.mit.edu	37	2	108618433	108618433	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:108618433G>A	ENST00000264047.2	+	6	954	c.678G>A	c.(676-678)aaG>aaA	p.K226K	SLC5A7_ENST00000409059.1_Silent_p.K226K|SLC5A7_ENST00000540517.1_Silent_p.K121K	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	226					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AATACCAAAAGCCGTGGCTGG	0.453000													19	54					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626436	80626436	+	Silent	SNP	A	A	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:80626436A>C	ENST00000369816.4	-	6	1134	c.834T>G	c.(832-834)gcT>gcG	p.A278A		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	278					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	CTGTTTTTCCAGCTTTTGGTT	0.363000													19	24					0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30814988	30814988	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:30814988C>T	ENST00000313401.3	+	2	1039	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	117					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CTCTCGGGTTCCCAGACCGGG	0.682000													29	98					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620235	77620235	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:77620235C>T	ENST00000521891.2	+	3	3493	c.3045C>T	c.(3043-3045)cgC>cgT	p.R1015R	ZFHX4_ENST00000518282.1_Silent_p.R989R|ZFHX4_ENST00000050961.6_Silent_p.R989R|ZFHX4_ENST00000455469.2_Silent_p.R989R|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	989						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATAAATTACGCTTGCATACCA	0.458000										HNSCC(33;0.089)			101	110					0	0	1	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32503504	32503504	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:32503504G>A	ENST00000327300.7	+	6	1141	c.974G>A	c.(973-975)aGa>aAa	p.R325K	KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R286K	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	325	Arg/Gly-rich.				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCCATCACCAGAGGTGCCACT	0.577000													39	152					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162470836	162470836	+	Nonsense_Mutation	SNP	T	T	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:162470836T>G	ENST00000489294.1	+	3	853	c.695T>G	c.(694-696)tTa>tGa	p.L232*	UHMK1_ENST00000538489.1_Nonsense_Mutation_p.L232*|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Nonsense_Mutation_p.L158*	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	232	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GGAATCATTTTACTGGAAATG	0.448000													25	101					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114773	86114773	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:86114773G>T	ENST00000383699.3	+	9	1616	c.989G>T	c.(988-990)gGc>gTc	p.G330V	CADM2_ENST00000407528.2_Missense_Mutation_p.G361V|CADM2_ENST00000405615.2_Missense_Mutation_p.G363V	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	361	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GCTTTGGCTGGCCAGAATGGC	0.393000													26	52					3.3946e-10	3.87318e-10	1	1	0
BTNL9	153579	broad.mit.edu	37	5	180481246	180481246	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:180481246C>T	ENST00000327705.9	+	7	1125	c.894C>T	c.(892-894)ctC>ctT	p.L298L	BTNL9_ENST00000376842.3_Intron|BTNL9_ENST00000376841.2_Silent_p.L298L	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	298						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGAGAAACTCACTGCAGAGC	0.537000													11	32					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280538	152280538	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:152280538G>A	ENST00000368799.1	-	3	6859	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2275	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATCTCTTGACTGCTCCTG	0.557000									Ichthyosis				39	468					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801392	80801392	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:80801392G>T	ENST00000466387.1	+	17	2570	c.1846G>T	c.(1846-1848)Gtg>Ttg	p.V616L	CTNNA2_ENST00000496558.1_Missense_Mutation_p.V616L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V650L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V616L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V295L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.V616L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V616L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	616					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCTCGCCTGGTGTATGATGG	0.522000													40	120					2.52991e-16	3.04639e-16	1	1	0
JAG1	182	broad.mit.edu	37	20	10621789	10621789	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr20:10621789G>A	ENST00000254958.5	-	24	3535	c.3020C>T	c.(3019-3021)tCa>tTa	p.S1007L	JAG1_ENST00000423891.2_Missense_Mutation_p.S848L	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1007					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATTGTTCGCTGAAGGGGAAGG	0.418000									Alagille Syndrome				30	100					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45113122	45113122	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr21:45113122G>A	ENST00000340648.4	+	16	2252	c.2135G>A	c.(2134-2136)cGa>cAa	p.R712Q		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	712					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGCCCTTCTCGAGTGGCCTTC	0.587000													13	29					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601405	75601405	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:75601405G>T	ENST00000549446.1	-	2	1039	c.359C>A	c.(358-360)aCc>aAc	p.T120N	KCNC2_ENST00000298972.1_Missense_Mutation_p.T120N|KCNC2_ENST00000350228.2_Missense_Mutation_p.T120N|KCNC2_ENST00000548513.1_Missense_Mutation_p.T120N|KCNC2_ENST00000341669.3_Missense_Mutation_p.T120N|KCNC2_ENST00000393288.2_Missense_Mutation_p.T120N|KCNC2_ENST00000550433.1_Missense_Mutation_p.T120N|KCNC2_ENST00000540018.1_Missense_Mutation_p.T120N	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	120					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CAGCTTGCCGGTGCGGTAGTA	0.692000													7	35					0.00448238	0.00457439	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79181293	79181293	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:79181293C>T	ENST00000554719.1	+	5	1227	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R246C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CATTGATGGGCGCAGCAAGAA	0.577000													21	43					0	0	1	0	0
TRAV9-1	28678	broad.mit.edu	37	14	22279931	22279931	+	RNA	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:22279931G>T	ENST00000390431.3	+	0	120																											CCCTGATTGTGAACTGCTCCT	0.463000													6	16					3.59834e-05	3.81775e-05	1	1	0
SLC25A47	283600	broad.mit.edu	37	14	100795084	100795084	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:100795084G>A	ENST00000361529.3	+	5	427	c.349G>A	c.(349-351)Gag>Aag	p.E117K	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	117					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GTCGCCCACTGAGGTGGCCAA	0.662000													11	60					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105749	14105749	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:14105749T>G	ENST00000235372.7	+	8	2315	c.1459T>G	c.(1459-1461)Tat>Gat	p.Y487D	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.Y286D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.Y487D|PRDM2_ENST00000413440.1_Missense_Mutation_p.Y286D	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	487						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCGTGCAAATATTGTAAAAA	0.413000													6	23					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085925	110085925	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:110085925T>A	ENST00000527748.1	+	2	964	c.281T>A	c.(280-282)aTg>aAg	p.M94K	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	94						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGACCCTCATGCCCCTGGCC	0.617000													56	197					0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80194073	80194073	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:80194073C>G	ENST00000581287.1	+	1	2511	c.189C>G	c.(187-189)atC>atG	p.I63M	SLC16A3_ENST00000392339.1_Missense_Mutation_p.I63M|SLC16A3_ENST00000584781.1_3'UTR|SLC16A3_ENST00000392341.1_Missense_Mutation_p.I63M|SLC16A3_ENST00000582743.1_Missense_Mutation_p.I63M	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	63					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CAGCCTGGATCTCCTCCATCC	0.627000													28	69					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49376712	49376712	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:49376712C>T	ENST00000374201.3	-	27	3765	c.3463G>A	c.(3463-3465)Gcc>Acc	p.A1155T	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A1130T|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A1123T|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000474573.1_Missense_Mutation_p.A107T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	1155	PDZ 3.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCCTGTGGGGCCCCTCTCAGT	0.567000													59	36					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119134219	119134219	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:119134219C>G	ENST00000264245.4	+	12	3975	c.3443C>G	c.(3442-3444)tCt>tGt	p.S1148C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1148					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATGACCTCATCTTACTGTAAA	0.532000													26	20					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168528	50168528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:50168528G>A	ENST00000284509.6	-	25	3115	c.2974C>T	c.(2974-2976)Cag>Tag	p.Q992*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.Q992*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	992					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAAAGGACTGGTAGTCAGCA	0.468000													14	55					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31709890	31709890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:31709890C>A	ENST00000261592.5	-	2	656	c.359G>T	c.(358-360)gGg>gTg	p.G120V	NOL4_ENST00000589544.1_Missense_Mutation_p.G120V|NOL4_ENST00000538587.1_Missense_Mutation_p.G46V|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Missense_Mutation_p.G6V	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	120						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCATTTGGCCCCGTTTCCAC	0.403000													16	96					5.45024e-15	6.49549e-15	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76239414	76239414	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:76239414G>C	ENST00000529032.1	+	13	2098	c.2098G>C	c.(2098-2100)Gag>Cag	p.E700Q	C11orf30_ENST00000524767.1_Missense_Mutation_p.E715Q|C11orf30_ENST00000343878.3_Missense_Mutation_p.E700Q|C11orf30_ENST00000533248.1_Missense_Mutation_p.E714Q|C11orf30_ENST00000525919.1_Missense_Mutation_p.E701Q|C11orf30_ENST00000524490.1_Missense_Mutation_p.E616Q|C11orf30_ENST00000334736.3_Missense_Mutation_p.E700Q|C11orf30_ENST00000525038.1_Missense_Mutation_p.E715Q			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	700					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGGTAGCAGAGGCTGGTAA	0.408000													33	83					0	0	1	0	0
METTL10	399818	broad.mit.edu	37	10	126449058	126449058	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:126449058C>T	ENST00000494792.1	-	6	524	c.525G>A	c.(523-525)tcG>tcA	p.S175S	METTL10_ENST00000368836.2_3'UTR																							GGTAGCTCTTCGAGAAGTTCA	0.353000													28	89					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74365118	74365118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:74365118C>A	ENST00000377044.4	-	2	711	c.172G>T	c.(172-174)Gca>Tca	p.A58S	TMEM2_ENST00000377066.5_Missense_Mutation_p.A58S	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	58						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCGAAGGTTGCCCGGTCTTCT	0.453000													29	49					1.836e-18	2.24975e-18	1	1	0
SAP30	8819	broad.mit.edu	37	4	174292579	174292579	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:174292579C>T	ENST00000296504.3	+	1	486	c.246C>T	c.(244-246)aaC>aaT	p.N82N		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	82	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CGGCAGGCAACGCCAGCTTCA	0.692000													9	79					0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816880	23816880	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:23816880C>A	ENST00000354772.3	-	8	1508	c.1005G>T	c.(1003-1005)tcG>tcT	p.S335S	SLC22A17_ENST00000397267.1_Silent_p.S335S|SLC22A17_ENST00000397260.3_Silent_p.S224S|SLC22A17_ENST00000206544.8_Silent_p.S335S|SLC22A17_ENST00000474057.1_5'UTR	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	335					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGTAGAAGTCCGATGGGCTCC	0.632000													70	113					1.38806e-43	1.89429e-43	1	1	0
FBLN5	10516	broad.mit.edu	37	14	92336602	92336602	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr14:92336602C>T	ENST00000267620.10	-	12	1605	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBLN5_ENST00000556154.1_Missense_Mutation_p.R443Q|FBLN5_ENST00000556961.1_5'UTR|FBLN5_ENST00000342058.4_Missense_Mutation_p.R438Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	438					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TATCCGCAGTCGGATCACGGA	0.552000													39	108					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649403	102649403	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:102649403C>T	ENST00000279441.4	-	4	610	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	192					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGAATATCTCCATAAAGCCCA	0.443000													16	63					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74365119	74365119	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:74365119C>T	ENST00000377044.4	-	2	710	c.171G>A	c.(169-171)cgG>cgA	p.R57R	TMEM2_ENST00000377066.5_Silent_p.R57R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	57						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGAAGGTTGCCCGGTCTTCTC	0.458000													29	47					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1538361	1538361	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:1538361G>T	ENST00000293922.1	-	1	107	c.108C>A	c.(106-108)ggC>ggA	p.G36G	PTX4_ENST00000447419.2_Intron|PTX4_ENST00000440447.2_Intron	NM_001013658.1	NP_001013680.1	Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCCCGACAGGCCCACAGCAC	0.652000													32	71					1.07637e-12	1.25276e-12	1	1	0
TAAR2	9287	broad.mit.edu	37	6	132939221	132939221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:132939221C>A	ENST00000367931.1	-	2	123	c.124G>T	c.(124-126)Gtc>Ttc	p.V42F	TAAR2_ENST00000275191.2_5'UTR|TAAR2_ENST00000537809.1_5'UTR			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	42						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCCACTCGGACACCCAGAGAT	0.353000													18	49					1.87028e-06	2.0276e-06	1	1	0
ADRA1A	148	broad.mit.edu	37	8	26623629	26623629	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:26623629C>T	ENST00000354550.4	-	3	1506	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GATATGCTCTCTGCAATTCTT	0.423000													32	128					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75551941	75551941	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:75551941G>A	ENST00000604729.1	+	10	1941	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	ZSWIM8_ENST00000398706.2_Silent_p.K548K|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000603114.1_Silent_p.K548K|ZSWIM8_ENST00000605216.1_Silent_p.K548K|ZSWIM8_ENST00000604524.1_Silent_p.K548K					zinc finger, SWIM-type containing 8																		CTGGGACCAAGCGAAAGGGCT	0.672000													6	20					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													6	132					0	0	1	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394674	17394674	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:17394674G>T	ENST00000394458.3	+	5	1377	c.1101G>T	c.(1099-1101)ctG>ctT	p.L367L	ANKLE1_ENST00000598347.1_Silent_p.L367L|ANKLE1_ENST00000594072.1_Silent_p.L356L|ANKLE1_ENST00000404085.1_Silent_p.L389L|ANKLE1_ENST00000433424.2_Silent_p.L421L	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	367	LEM.					nuclear envelope		p.L353L(1)|p.L367L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TGGAGTTGCTGAAGGGACTCC	0.582000													3	40					1	1	1	1	0
PCDHB13	56123	broad.mit.edu	37	5	140594670	140594670	+	Silent	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:140594670T>A	ENST00000341948.4	+	1	1162	c.975T>A	c.(973-975)gcT>gcA	p.A325A		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		325	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGAGATGCTGGAACCTTTT	0.408000													56	128					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688979	60688979	+	Silent	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:60688979C>G	ENST00000335712.6	-	4	1295	c.1068G>C	c.(1066-1068)gcG>gcC	p.A356A	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.A322A|BCL11A_ENST00000538214.1_Silent_p.A322A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.A356A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	356	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGGGGCGTCGCCAGGAAGG	0.632000			T	IGH@	B-CLL								38	72					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48697117	48697117	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:48697117G>C	ENST00000544264.1	-	1	3231	c.2951C>G	c.(2950-2952)tCa>tGa	p.S984*	CELSR3_ENST00000164024.4_Nonsense_Mutation_p.S984*			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	984	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAGTGGCTGAGATCTGCAG	0.532000													11	39					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7267983	7267983	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:7267983C>T	ENST00000217961.4	+	10	1653	c.1433C>T	c.(1432-1434)tCc>tTc	p.S478F		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	478					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCCGTGGGTTCCAACGGATGC	0.483000									Ichthyosis				36	35					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757740	242757740	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:242757740G>A	ENST00000391969.2	+	5	1532	c.821G>A	c.(820-822)tGg>tAg	p.W274*	NEU4_ENST00000407683.1_Nonsense_Mutation_p.W274*|NEU4_ENST00000405370.1_Nonsense_Mutation_p.W274*|NEU4_ENST00000404257.1_Nonsense_Mutation_p.W286*|NEU4_ENST00000325935.6_Nonsense_Mutation_p.W287*	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	274						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GAGACTGCCTGGGGCTGCCAG	0.721000													4	12					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175513	143175513	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:143175513C>G	ENST00000408916.1	+	1	548	c.548C>G	c.(547-549)tCc>tGc	p.S183C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	183					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TATTTCCCATCCCTGAAACTG	0.368000													9	63					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40855098	40855098	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:40855098G>A	ENST00000358005.3	-	2	390	c.117C>T	c.(115-117)ttC>ttT	p.F39F	C15orf57_ENST00000416810.2_Silent_p.F39F|C15orf57_ENST00000560305.1_Silent_p.F39F|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000559911.1_Silent_p.F39F|C15orf57_ENST00000558871.1_Silent_p.F39F|C15orf57_ENST00000558750.1_Silent_p.F48F|C15orf57_ENST00000558113.1_Silent_p.F39F|C15orf57_ENST00000561011.1_Silent_p.F39F	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	39										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						AGGAGTCTGAGAATGCATTGT	0.532000													60	156					0	0	1	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76072677	76072677	+	RNA	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:76072677C>G	ENST00000395215.3	+	0	330																											CCCACAGAAACAACAGAAGAA	0.498000													38	116					0	0	1	0	0
MRGBP	55257	broad.mit.edu	37	20	61430982	61430982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr20:61430982G>T	ENST00000370487.3	+	5	673	c.602G>T	c.(601-603)cGg>cTg	p.R201L		NM_018270.4	NP_060740.1			MRG/MORF4L binding protein																		GCTGCCAAGCGGCGCCGCACG	0.667000													18	57					0.000229342	0.000237532	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100732822	100732822	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:100732822G>T	ENST00000306085.6	+	3	2526	c.2229G>T	c.(2227-2229)ggG>ggT	p.G743G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	743					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTAACGGGACCATCCACA	0.607000													12	47					7.03913e-09	7.92756e-09	1	1	0
PLCL1	5334	broad.mit.edu	37	2	199011543	199011543	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:199011543A>T	ENST00000428675.1	+	6	3543	c.3145A>T	c.(3145-3147)Ata>Tta	p.I1049L	PLCL1_ENST00000437704.2_Missense_Mutation_p.I951L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1049					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.I951L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAATGAAGCTATAGAAAACAT	0.507000													19	69					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145659143	145659143	+	Splice_Site	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:145659143C>G	ENST00000409379.3	-	22	3417		c.e22-1			NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein						cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCTCCAAACTCTGTGGAAGAC	0.647000													10	34					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766976	77766976	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:77766976C>A	ENST00000521891.2	+	10	8267	c.7819C>A	c.(7819-7821)Cgc>Agc	p.R2607S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2581S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2562S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2562S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2562						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2591G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGAGATAAACGCTTGAGAAC	0.423000										HNSCC(33;0.089)			4	33					0.150653	0.151088	1	1	0
PIGT	51604	broad.mit.edu	37	20	44054310	44054310	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr20:44054310C>T	ENST00000279036.6	+	12	1661	c.1581C>T	c.(1579-1581)aaC>aaT	p.N527N	PIGT_ENST00000341555.5_Silent_p.N333N|PIGT_ENST00000372689.5_Silent_p.N460N|PIGT_ENST00000545755.1_Silent_p.N265N|PIGT_ENST00000543458.2_Silent_p.N471N|PIGT_ENST00000279035.9_Silent_p.N425N|PIGT_ENST00000535404.1_Silent_p.N372N	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	527					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TGCCCTACAACGTGATCTGCC	0.597000													7	23					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148062278	148062278	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:148062278C>T	ENST00000370460.2	+	19	4060	c.3581C>T	c.(3580-3582)tCa>tTa	p.S1194L	AFF2_ENST00000342251.3_Missense_Mutation_p.S1161L|AFF2_ENST00000286437.5_Missense_Mutation_p.S835L|AFF2_ENST00000370457.5_Missense_Mutation_p.S1159L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1194					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)					CAAAATGCTTCAAAAGTCGCA	0.358000													22	27					0	0	1	0	0
C1orf85	112770	broad.mit.edu	37	1	156263999	156263999	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:156263999G>A	ENST00000362007.1	-	4	634	c.608C>T	c.(607-609)cCa>cTa	p.P203L	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.P117L	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	203			P -> S (in dbSNP:rs10908496).		positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGGTTGGGCTGGTCGGCTGGA	0.597000													8	50					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490076	71490076	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:71490076C>A	ENST00000296755.7	+	5	1192	c.894C>A	c.(892-894)atC>atA	p.I298I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	298						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAAGCTCATCCGACACTTAG	0.493000													19	101					3.8784e-16	4.65408e-16	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124380804	124380804	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:124380804C>T	ENST00000338354.3	+	41	5235	c.5129C>T	c.(5128-5130)tCa>tTa	p.S1710L	DMBT1_ENST00000368956.2_Missense_Mutation_p.S1082L|DMBT1_ENST00000368955.3_Missense_Mutation_p.S1700L|DMBT1_ENST00000330163.4_Missense_Mutation_p.S1082L|DMBT1_ENST00000368909.3_Missense_Mutation_p.S1710L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S1700L			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1710	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGCTGCTCAGGGAATGAG	0.627000													41	123					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24881967	24881967	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:24881967G>A	ENST00000313367.2	-	13	1783	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	OSBPL3_ENST00000353930.1_Silent_p.I408I|OSBPL3_ENST00000352860.1_Silent_p.I413I|OSBPL3_ENST00000409069.1_Silent_p.I377I|OSBPL3_ENST00000396429.1_Silent_p.I408I|OSBPL3_ENST00000396431.1_Silent_p.I413I|OSBPL3_ENST00000431825.2_Silent_p.I377I	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	444					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GGGAGTCAGTGATGGAGAGTC	0.383000													33	150					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35506883	35506883	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:35506883T>A	ENST00000353139.5	-	45	6065	c.5584A>T	c.(5584-5586)Att>Ttt	p.I1862F	ACACA_ENST00000335166.5_Missense_Mutation_p.I1747F|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Missense_Mutation_p.I1825F|ACACA_ENST00000360679.3_Missense_Mutation_p.I1767F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1825	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAATCCCAATGGCCCGGCAC	0.428000													23	73					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227842533	227842533	+	Silent	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:227842533A>T	ENST00000343776.4	+	4	927	c.582A>T	c.(580-582)tcA>tcT	p.S194S	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.S249S			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	249					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATTGGTGGTCACAACTAACTA	0.358000													32	210					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930355	121930355	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:121930355G>A	ENST00000265922.3	-	8	1754	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		431					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TGTTGTTCCCGCCTATCACGC	0.622000													5	9					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35837015	35837015	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:35837015C>T	ENST00000394395.2	+	16	1433	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	TADA2A_ENST00000225396.6_Silent_p.I420I	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	420	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GAGCACTCATCAAGATAGATG	0.438000													65	203					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320455	38320455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr13:38320455G>T	ENST00000379705.3	-	3	1373	c.516C>A	c.(514-516)caC>caA	p.H172Q	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.H172Q|TRPC4_ENST00000426868.2_Missense_Mutation_p.H172Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.H172Q|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.H172Q|TRPC4_ENST00000447043.1_Missense_Mutation_p.H172Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.H172Q			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	172	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCGGACCTCGTGGGGTCGAG	0.488000													28	89					3.69857e-22	4.68037e-22	1	1	0
CALHM1	255022	broad.mit.edu	37	10	105218385	105218385	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:105218385A>T	ENST00000329905.5	-	1	260	c.124T>A	c.(124-126)Tgc>Agc	p.C42S	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	42						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AGGCAGGGGCAGTTGAAGTCG	0.597000													13	54					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49068000	49068000	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:49068000C>G	ENST00000262013.7	-	20	2636	c.2428G>C	c.(2428-2430)Gaa>Caa	p.E810Q	SPAG9_ENST00000505279.1_Missense_Mutation_p.E800Q|SPAG9_ENST00000510283.1_Missense_Mutation_p.E653Q|SPAG9_ENST00000357122.4_Missense_Mutation_p.E796Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	810					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GAAAGATCTTCTCCTGCAGGG	0.378000													38	69					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329254	23329254	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:23329254C>G	ENST00000597761.2	+	4	1607	c.1408C>G	c.(1408-1410)Cat>Gat	p.H470D		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						CCTCACTACACATAAGATAAT	0.383000													6	20					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131625	150131625	+	Silent	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:150131625G>C	ENST00000369124.4	+	6	1415	c.1137G>C	c.(1135-1137)ctG>ctC	p.L379L	PLEKHO1_ENST00000025469.6_Silent_p.L345L|PLEKHO1_ENST00000369126.1_Silent_p.L196L	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	379	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGGGAGCTGAGAGACCTGT	0.612000													17	50					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24550935	24550935	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:24550935G>A	ENST00000355123.4	-	2	460	c.17C>T	c.(16-18)cCc>cTc	p.P6L	ITSN2_ENST00000407704.1_5'UTR|ITSN2_ENST00000406921.3_Missense_Mutation_p.P6L|ITSN2_ENST00000361999.3_Missense_Mutation_p.P6L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	6					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATAGCTGTGGGAAACTGAGC	0.373000													15	43					0	0	1	0	0
TIGD7	91151	broad.mit.edu	37	16	3350590	3350590	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:3350590T>C	ENST00000396862.1	-	2	1853	c.25A>G	c.(25-27)Aca>Gca	p.T9A	TIGD7_ENST00000268674.2_Missense_Mutation_p.T9A	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	9	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AAATTCAGTGTTGTATATTTC	0.343000													28	57					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34130000	34130000	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:34130000C>A	ENST00000389232.4	+	89	11889	c.11819C>A	c.(11818-11820)tCc>tAc	p.S3940Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3935Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3940	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGAATTATCTCCAAAAAAGAA	0.398000													17	32					2.4624e-09	2.78219e-09	1	1	0
JRKL	8690	broad.mit.edu	37	11	96124978	96124978	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:96124978C>T	ENST00000458427.1	+	1	1821	c.1165C>T	c.(1165-1167)Ctc>Ttc	p.L389F	JRKL_ENST00000332349.4_Missense_Mutation_p.L389F|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	389					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAGAAGATTCTCCCTATGGT	0.408000													60	94					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114919843	114919843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:114919843C>A	ENST00000374270.3	-	2	326	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	SUSD1_ENST00000374263.3_Nonsense_Mutation_p.E52*|SUSD1_ENST00000374264.2_Nonsense_Mutation_p.E52*	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	52	EGF-like 1.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTTCCCTTCTCTTTGCTGG	0.408000													17	41					1.55469e-16	1.87859e-16	1	1	0
ZNF777	27153	broad.mit.edu	37	7	149129844	149129844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:149129844G>T	ENST00000247930.4	-	6	1842	c.1519C>A	c.(1519-1521)Cag>Aag	p.Q507K		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TTTCCTAGCTGCAGGGGCGGG	0.692000													14	35					1.55795e-14	1.8441e-14	1	1	0
SPATA21	374955	broad.mit.edu	37	1	16757852	16757852	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:16757852G>T	ENST00000335496.1	-	3	497	c.15C>A	c.(13-15)aaC>aaA	p.N5K	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Intron|SPATA21_ENST00000375577.1_Missense_Mutation_p.N5K	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	5							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		ACATCTGGGTGTTTCTATTGT	0.557000													22	71					3.99451e-17	4.8775e-17	1	1	0
DSG3	1830	broad.mit.edu	37	18	29052358	29052358	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:29052358G>T	ENST00000257189.4	+	13	2092	c.2009G>T	c.(2008-2010)gGa>gTa	p.G670V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	670					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CATCAGTGGGGAATTGAAGGA	0.428000													15	48					5.01169e-05	5.25322e-05	1	1	0
SASH1	23328	broad.mit.edu	37	6	148865628	148865628	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:148865628A>C	ENST00000367467.3	+	18	3497	c.3022A>C	c.(3022-3024)Agt>Cgt	p.S1008R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1008	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATGGGCCCCAGTGGGGCCCT	0.637000													19	26					0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80457942	80457942	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:80457942G>C	ENST00000265361.3	-	3	784	c.223C>G	c.(223-225)Ctt>Gtt	p.L75V	SEMA3C_ENST00000544525.1_Missense_Mutation_p.L93V|SEMA3C_ENST00000419255.2_Missense_Mutation_p.L75V|SEMA3C_ENST00000536800.1_Intron	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	75	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCAGGGAAAGAATGTGATCT	0.363000													23	72					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27216195	27216195	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:27216195C>T	ENST00000429845.2	-	28	2997	c.2635G>A	c.(2635-2637)Gcc>Acc	p.A879T	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383771.4_Missense_Mutation_p.A191T|NEK10_ENST00000295720.6_Missense_Mutation_p.A191T|NEK10_ENST00000383770.3_Missense_Mutation_p.A191T|NEK10_ENST00000357467.2_Missense_Mutation_p.A276T			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	879							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTCACAGGCCCTGTCTTCG	0.517000													39	117					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14104921	14104921	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:14104921G>C	ENST00000235372.7	+	8	1487	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E10Q|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.E211Q|PRDM2_ENST00000413440.1_Missense_Mutation_p.E10Q	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	211						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGTCCTAAAGAAGACGAAGA	0.517000													45	117					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38978636	38978636	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:38978636C>T	ENST00000269576.5	-	1	211	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	68	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				GATGAGCCCCCAAAGCAGCCC	0.537000													57	115					0	0	1	0	0
TNIP1	10318	broad.mit.edu	37	5	150422188	150422188	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:150422188C>T	ENST00000389378.2	-	11	1635	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	TNIP1_ENST00000524280.1_Silent_p.V349V|TNIP1_ENST00000522226.1_Silent_p.V349V|TNIP1_ENST00000521591.1_Silent_p.V349V|TNIP1_ENST00000520931.1_Silent_p.V296V|TNIP1_ENST00000523338.1_Silent_p.V349V|TNIP1_ENST00000523200.1_Silent_p.V349V|TNIP1_ENST00000315050.7_Silent_p.V349V|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Silent_p.V349V	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	349	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCAGTCACCTGCTTCT	0.562000													18	34					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42856390	42856390	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:42856390C>T	ENST00000334370.4	+	18	3566	c.2931C>T	c.(2929-2931)ctC>ctT	p.L977L	MEGF8_ENST00000251268.6_Silent_p.L1044L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1044						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGCCCCTCGGTGGGGGTA	0.632000													2	2					0	0	1	0	0
CTRL	1506	broad.mit.edu	37	16	67964436	67964436	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:67964436A>G	ENST00000574481.1	-	5	935	c.374T>C	c.(373-375)cTg>cCg	p.L125P		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	125	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GGCGAGCTTCAGCAGCGTCAC	0.567000													77	221					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25591815	25591815	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:25591815C>T	ENST00000269141.3	-	4	964	c.541G>A	c.(541-543)Gtc>Atc	p.V181I	CDH2_ENST00000399380.3_Missense_Mutation_p.V150I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	181	Cadherin 1.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACCCTGACAAGCTCTTGA	0.398000													35	87					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119305492	119305492	+	Splice_Site	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:119305492G>T	ENST00000478399.1	+	3	2064	c.659_splice	c.e3+1	p.W220_splice	ADPRH_ENST00000465513.1_Splice_Site_p.W220_splice|ADPRH_ENST00000357003.3_Splice_Site_p.W220_splice|ADPRH_ENST00000478927.1_Splice_Site_p.W220_splice|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	220					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CTTCAACACTGGTGAGTCTGT	0.473000													54	62					3.89499e-28	5.05767e-28	1	1	0
PNLIP	5406	broad.mit.edu	37	10	118315563	118315563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:118315563C>A	ENST00000369221.2	+	9	891	c.863C>A	c.(862-864)aCt>aAt	p.T288N		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	288					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AAATATTACACTGATAGCATC	0.418000													49	104					2.29192e-23	2.9109e-23	1	1	0
CEP350	9857	broad.mit.edu	37	1	180022966	180022966	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:180022966G>C	ENST00000367607.3	+	24	5489	c.5071G>C	c.(5071-5073)Gaa>Caa	p.E1691Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1691						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATGAAAGAGGAAGAAATGAG	0.433000													30	115					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496734	52496734	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:52496734C>T	ENST00000602063.1	-	6	1944	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	ZNF615_ENST00000598071.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.R543Q|ZNF615_ENST00000391795.3_Missense_Mutation_p.R537Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.R532Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R543Q(2)|p.R532Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTATGAGTTCGTTGATGTCC	0.443000													34	59					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11593535	11593535	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr17:11593535G>A	ENST00000262442.3	+	20	4464	c.4396G>A	c.(4396-4398)Gag>Aag	p.E1466K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1466K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1466	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCTCTGATGAGGACCTCAT	0.512000													23	39					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170688909	170688909	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:170688909G>T	ENST00000239461.6	+	2	597	c.284G>T	c.(283-285)cGa>cTa	p.R95L	PRRX1_ENST00000367760.3_Missense_Mutation_p.R95L|PRRX1_ENST00000497230.2_Missense_Mutation_p.R95L	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAAGCAGCGAAGGAATAGG	0.458000													17	29					9.7654e-05	0.000101747	1	1	0
CFLAR	8837	broad.mit.edu	37	2	202001078	202001078	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:202001078C>T	ENST00000395148.2	+	5	893	c.681C>T	c.(679-681)gtC>gtT	p.V227V	CFLAR_ENST00000423241.2_Intron|CFLAR_ENST00000342795.5_Intron|CFLAR_ENST00000341222.6_Intron|CFLAR_ENST00000340870.5_Intron|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000494258.1_Intron|CFLAR_ENST00000440180.1_Intron|CFLAR_ENST00000341582.6_Intron|CFLAR_ENST00000479953.2_Intron|CFLAR_ENST00000309955.2_Intron|CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000457277.1_Intron			O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	0	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACATTTCAGTCTTCAAGAAAG	0.453000													19	73					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435391	158435391	+	Missense_Mutation	SNP	G	G	C	rs140101672	byFrequency	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:158435391G>C	ENST00000289451.2	+	1	120	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AGAGTTCGTCGTCCTCGGCTT	0.507000													18	68					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904814	55904814	+	Silent	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:55904814A>G	ENST00000301529.1	-	1	380	c.381T>C	c.(379-381)tgT>tgC	p.C127C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCAGAGGGTTACAAATGGCCA	0.507000													42	91					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234916745	234916745	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:234916745A>T	ENST00000324695.4	+	24	3302	c.3262A>T	c.(3262-3264)Aag>Tag	p.K1088*	TRPM8_ENST00000433712.2_Nonsense_Mutation_p.K666*	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	1088						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ACTGGATACAAAGGTATGGTT	0.343000													27	75					0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33450903	33450903	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:33450903G>C	ENST00000305768.4	-	3	296	c.208C>G	c.(208-210)Cag>Gag	p.Q70E	CEP89_ENST00000590597.1_Missense_Mutation_p.Q70E	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	70						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGGCGAGGCTGAGGAATAGCA	0.562000													14	71					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21036137	21036137	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:21036137G>A	ENST00000247986.2	-	4	975	c.665C>T	c.(664-666)gCc>gTc	p.A222V	KIF17_ENST00000375044.1_Missense_Mutation_p.A122V|KIF17_ENST00000400463.3_Missense_Mutation_p.A222V			Q9P2E2	KIF17_HUMAN	kinesin family member 17	222	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CATACCCACGGCAGACATCTC	0.617000													27	100					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163533	32163533	+	RNA	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:32163533C>T	ENST00000564145.1	-	0	65																											ACGGTGCCTTCTCCAAACTCA	0.572000													12	82					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141101	143141101	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:143141101C>A	ENST00000332690.1	+	1	556	c.556C>A	c.(556-558)Cgg>Agg	p.R186R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	186					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.R186R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CGATAGCATACGGAGCTACTG	0.398000													12	171					2.61681e-11	3.00545e-11	1	1	0
HFM1	164045	broad.mit.edu	37	1	91845790	91845790	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:91845790G>C	ENST00000370425.3	-	8	975	c.877C>G	c.(877-879)Ctt>Gtt	p.L293V	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	293	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGTGTAAAGAAGCTAAAAA	0.289000													22	60					0	0	1	0	0
SETD6	79918	broad.mit.edu	37	16	58550242	58550242	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:58550242G>A	ENST00000394266.4	+	4	455	c.399G>A	c.(397-399)atG>atA	p.M133I	SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Missense_Mutation_p.M157I|SETD6_ENST00000310682.2_Missense_Mutation_p.M133I			Q8TBK2	SETD6_HUMAN	SET domain containing 6	157	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						AGCACCCGATGTTCTGGTGAG	0.662000													14	12					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106924162	106924162	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:106924162C>G	ENST00000393603.2	-	13	1693	c.1422G>C	c.(1420-1422)ttG>ttC	p.L474F	COG5_ENST00000347053.3_Missense_Mutation_p.L474F|COG5_ENST00000297135.3_Missense_Mutation_p.L474F	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	474					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GTGAGTCTTTCAAAGCCTTTT	0.368000													31	78					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768106	31768106	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:31768106G>C	ENST00000240587.4	-	2	2920	c.2593C>G	c.(2593-2595)Cct>Gct	p.P865A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	865					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)					ATGCTGGAAGGAGTGGAGGAT	0.542000													78	83					0	0	1	0	0
LRCH2	57631	broad.mit.edu	37	X	114357726	114357726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:114357726C>A	ENST00000317135.8	-	18	1909	c.1879G>T	c.(1879-1881)Ggg>Tgg	p.G627W	LRCH2_ENST00000538422.1_Missense_Mutation_p.G610W	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	627										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						TCTGCTGCCCCATATTCTTGG	0.418000													12	8					9.16793e-09	1.02586e-08	1	1	0
RPE65	6121	broad.mit.edu	37	1	68915577	68915577	+	Splice_Site	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:68915577C>A	ENST00000262340.5	-	1	65		c.e1+1			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GAGATACTTACTGGATAGACA	0.413000													16	31					5.35267e-07	5.87611e-07	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3139591	3139591	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:3139591G>C	ENST00000446632.2	-	7	1246	c.672C>G	c.(670-672)atC>atG	p.I224M	IL5RA_ENST00000383846.1_Missense_Mutation_p.I224M|IL5RA_ENST00000311981.8_Missense_Mutation_p.I224M|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000418488.2_Missense_Mutation_p.I224M|IL5RA_ENST00000456302.1_Missense_Mutation_p.I224M|IL5RA_ENST00000256452.3_Missense_Mutation_p.I224M|IL5RA_ENST00000438560.1_Missense_Mutation_p.I224M|IL5RA_ENST00000430514.2_Missense_Mutation_p.I224M	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	224					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CAAAGGGCCTGATAGCAGAGT	0.502000													15	25					0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43230550	43230550	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:43230550C>T	ENST00000259750.4	+	13	1531	c.1448C>T	c.(1447-1449)tCg>tTg	p.S483L	TTBK1_ENST00000304139.5_Missense_Mutation_p.S432L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	483						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTGCCTGGCTCGCCCTCGCGC	0.687000													7	19					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850808	216850808	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:216850808C>T	ENST00000391890.3	-	4	530	c.13G>A	c.(13-15)Gat>Aat	p.D5N	ESRRG_ENST00000360012.3_Missense_Mutation_p.D5N|ESRRG_ENST00000408911.3_Missense_Mutation_p.D28N|ESRRG_ENST00000361395.2_Missense_Mutation_p.D5N|ESRRG_ENST00000493748.1_Missense_Mutation_p.D5N|ESRRG_ENST00000359162.2_Missense_Mutation_p.D5N|ESRRG_ENST00000366937.1_Missense_Mutation_p.D33N|ESRRG_ENST00000487276.1_Missense_Mutation_p.D5N|ESRRG_ENST00000493603.1_Missense_Mutation_p.D5N|ESRRG_ENST00000366938.2_Missense_Mutation_p.D5N|ESRRG_ENST00000366940.2_Missense_Mutation_p.D5N|ESRRG_ENST00000463665.1_Missense_Mutation_p.D5N|ESRRG_ENST00000361525.3_Missense_Mutation_p.D5N	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	28					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATGTGTCGATCTTTGTTTGAC	0.507000													19	43					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130219591	130219591	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:130219591C>T	ENST00000276211.5	+	8	1330	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	ARHGAP36_ENST00000370921.1_Silent_p.L193L|ARHGAP36_ENST00000370922.1_Silent_p.L317L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	329	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCTTTCTGCCCTGCAGTTGCT	0.537000													143	131					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4594654	4594654	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:4594654C>T	ENST00000307616.1	-	2	189	c.190G>A	c.(190-192)Gat>Aat	p.D64N		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	64										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACATCCTTATCTAAGTTAAAG	0.428000													11	46					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713460	44713460	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:44713460G>C	ENST00000222673.5	+	6	750	c.708G>C	c.(706-708)caG>caC	p.Q236H	OGDH_ENST00000449767.1_Missense_Mutation_p.Q232H|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000447398.1_Missense_Mutation_p.Q247H|OGDH_ENST00000444676.1_Missense_Mutation_p.Q251H|OGDH_ENST00000543843.1_Missense_Mutation_p.Q187H|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000443864.2_Missense_Mutation_p.Q236H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	236					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GGATCCGGCAGAAGTTTGAGA	0.547000													35	155					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606365	55606365	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr11:55606365G>T	ENST00000378396.1	+	1	138	c.138G>T	c.(136-138)ggG>ggT	p.G46G		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	46					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)				GGAATCTTGGGATGATAGTGA	0.428000													51	133					2.18419e-29	2.85752e-29	1	1	0
LRRC3	81543	broad.mit.edu	37	21	45876767	45876767	+	Silent	SNP	G	G	A	rs145313990		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr21:45876767G>A	ENST00000291592.4	+	2	557	c.240G>A	c.(238-240)ccG>ccA	p.P80P		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	80						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCCACCTCCCGGACGGGGCCT	0.672000													18	75					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444051	100444051	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:100444051C>T	ENST00000279907.7	-	17	3825	c.3613G>A	c.(3613-3615)Gac>Aac	p.D1205N	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D855N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1205										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CCTCGGATGTCAATTTCCCCA	0.373000													12	49					0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185332511	185332511	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:185332511C>T	ENST00000296257.5	+	11	1333	c.1093C>T	c.(1093-1095)Ctc>Ttc	p.L365F	SENP2_ENST00000545472.1_Missense_Mutation_p.L355F|SENP2_ENST00000427465.2_Missense_Mutation_p.L189F	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	365					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AACGGACGATCTCCTTGAACT	0.393000													20	47					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138266	32138266	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:32138266G>A	ENST00000312561.4	+	4	4791	c.4377G>A	c.(4375-4377)ctG>ctA	p.L1459L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		AAGAAGCTCTGAGTAATAAAG	0.378000													13	57					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961099	1961099	+	Missense_Mutation	SNP	C	C	T	rs138498390	byFrequency	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr20:1961099C>T	ENST00000217305.2	-	4	860	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R212Q|PDYN_ENST00000539905.1_Missense_Mutation_p.R212Q	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACGAATGCGCCGCAAGAAGCC	0.587000													37	115					0	0	1	0	0
HPCA	3208	broad.mit.edu	37	1	33354703	33354703	+	Silent	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:33354703C>G	ENST00000373467.3	+	2	306	c.204C>G	c.(202-204)gtC>gtG	p.V68V	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	68	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCGAGCACGTCTTCCGCACCT	0.552000													39	93					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223839	55223839	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:55223839G>T	ENST00000340465.2	+	6	941	c.855G>T	c.(853-855)acG>acT	p.T285T		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	285						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCCTTGGGACGGTCCTTCAAG	0.413000													108	100					2.20786e-56	3.0369e-56	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15928333	15928333	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:15928333G>T	ENST00000504595.1	+	3	943	c.462G>T	c.(460-462)tgG>tgT	p.W154C	FBXL7_ENST00000510662.1_Missense_Mutation_p.W107C|FBXL7_ENST00000329673.7_Missense_Mutation_p.W142C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	154	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CGCGGCTCTGGAGGACTATCC	0.662000													7	12					1.12685e-05	1.2066e-05	1	1	0
CASD1	64921	broad.mit.edu	37	7	94180652	94180652	+	Silent	SNP	A	A	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:94180652A>T	ENST00000297273.4	+	15	2105	c.1818A>T	c.(1816-1818)gtA>gtT	p.V606V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	606						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTTTTCAGGTAGTTTTCCACG	0.308000													4	36					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686504	125686504	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:125686504C>A	ENST00000371126.1	-	1	330	c.88G>T	c.(88-90)Gca>Tca	p.A30S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	30										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCGTCCGCTGCCGCCAAGCCC	0.697000													13	4					3.52763e-06	3.81247e-06	1	1	0
EPB41L1	2036	broad.mit.edu	37	20	34776403	34776403	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr20:34776403C>G	ENST00000338074.2	+	9	1169	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	EPB41L1_ENST00000202028.5_Missense_Mutation_p.I274M|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I239M|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I274M|EPB41L1_ENST00000373941.1_Missense_Mutation_p.I336M|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I305M	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	336	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACTTCTATATCAAGATCCGGC	0.562000													9	16					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18092536	18092536	+	RNA	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:18092536G>A	ENST00000601725.1	+	0	152																											GGTGGACAACGGGGCTGATGA	0.682000													18	31					0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138439090	138439090	+	Missense_Mutation	SNP	C	C	T	rs111808171	byFrequency	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:138439090C>T	ENST00000342114.4	+	2	181	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	OBP2A_ENST00000340780.3_Silent_p.S91S|OBP2A_ENST00000539850.1_Silent_p.S91S|OBP2A_ENST00000371776.1_Silent_p.S91S			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	56					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCAAATTCAGCGCCTGTGAGC	0.647000													33	77					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259361	43259361	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr19:43259361T>A	ENST00000404209.4	-	4	863	c.767A>T	c.(766-768)gAt>gTt	p.D256V	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.D163V|PSG8_ENST00000406636.3_Missense_Mutation_p.D134V|PSG8_ENST00000306511.4_Missense_Mutation_p.D256V	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	256	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTTAAGACATCCTTATTCTC	0.488000													69	124					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227919419	227919419	+	Silent	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:227919419G>A	ENST00000396625.3	-	31	2958	c.2751C>T	c.(2749-2751)ccC>ccT	p.P917P	COL4A4_ENST00000329662.7_Silent_p.P917P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	917	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTCTTTCTCCGGGAAAACCTG	0.512000													14	31					0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29648260	29648260	+	Splice_Site	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:29648260G>T	ENST00000217740.3	+	6	1104		c.e6-1		RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_Splice_Site	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase						negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTTATTGTAGGATTTTAATA	0.328000													14	28					1.52009e-12	1.76331e-12	1	1	0
C8B	732	broad.mit.edu	37	1	57417781	57417781	+	Silent	SNP	C	C	A	rs34438223	byFrequency	TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:57417781C>A	ENST00000543257.1	-	6	1016	c.450G>T	c.(448-450)ccG>ccT	p.P150P	C8B_ENST00000535057.1_Silent_p.P140P|C8B_ENST00000371237.4_Silent_p.P202P	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	202	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P202P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGATGTAATGCGGGGAGCATC	0.507000													43	135					1.19451e-25	1.52827e-25	1	1	0
ANO10	55129	broad.mit.edu	37	3	43618533	43618533	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:43618533C>T	ENST00000292246.3	-	6	983	c.813G>A	c.(811-813)agG>agA	p.R271R	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000396091.3_Silent_p.R205R|ANO10_ENST00000414522.2_Silent_p.R271R|ANO10_ENST00000451430.2_Silent_p.R160R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	271					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GTGTCCCCCACCTGTAGGTCA	0.517000													22	59					0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119307665	119307665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:119307665G>T	ENST00000442245.4	+	2	766	c.496G>T	c.(496-498)Gac>Tac	p.D166Y	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000553456.3_Silent_p.G227G	NM_001165924.1	NP_001159396.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	0						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAAAAAGGGACGCACCATA	0.468000													8	18					3.86212e-05	4.06048e-05	1	1	0
RERE	473	broad.mit.edu	37	1	8716296	8716296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:8716296G>A	ENST00000337907.3	-	3	695	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RERE_ENST00000400908.2_Nonsense_Mutation_p.R21*|RERE_ENST00000400907.2_Nonsense_Mutation_p.R21*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	21					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tctctctctcggtcccggtct	0.522000													28	120					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48369263	48369263	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr12:48369263G>T	ENST00000380518.3	-	51	3887	c.3723C>A	c.(3721-3723)gcC>gcA	p.A1241A	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.A1172A	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1241	Nonhelical region (C-terminal).	Cleavage; by procollagen C-endopeptidase (By similarity).			axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGCCTGGTCGGCCCGCATGT	0.657000													34	75					1.49673e-21	1.88719e-21	1	1	0
LDB2	9079	broad.mit.edu	37	4	16597475	16597475	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:16597475G>C	ENST00000502640.1	-	3	407	c.259C>G	c.(259-261)Cgt>Ggt	p.R87G	LDB2_ENST00000304523.5_Missense_Mutation_p.R87G|LDB2_ENST00000441778.2_Missense_Mutation_p.R87G|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.R87G			O43679	LDB2_HUMAN	LIM domain binding 2	87							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTAAAGTAACGGGGGATGAGG	0.483000													15	33					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79750721	79750721	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr15:79750721C>T	ENST00000305428.3	+	2	2307	c.2232C>T	c.(2230-2232)ctC>ctT	p.L744L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	744						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						GTGTGGGCCTCAATGAGGAGG	0.473000													32	63					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789920	89789920	+	Missense_Mutation	SNP	G	G	T	rs147766861		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr16:89789920G>T	ENST00000289816.5	+	4	896	c.584G>T	c.(583-585)cGg>cTg	p.R195L	ZNF276_ENST00000568064.1_Missense_Mutation_p.G189C|ZNF276_ENST00000446326.2_Missense_Mutation_p.G67C|ZNF276_ENST00000443381.2_Missense_Mutation_p.R270L	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		ACGGCGCCACGGCTGCCCCAG	0.652000													7	29					0.000157383	0.000163491	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61570483	61570483	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:61570483A>G	ENST00000457692.1	+	9	1525	c.1192A>G	c.(1192-1194)Att>Gtt	p.I398V	SERPINB2_ENST00000299502.4_Missense_Mutation_p.I398V	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	398					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCTTTTTCTTATTATGCATAA	0.448000													24	66					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594224	123594224	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr7:123594224G>T	ENST00000340011.5	+	3	957	c.600G>T	c.(598-600)ctG>ctT	p.L200L	SPAM1_ENST00000402183.2_Silent_p.L200L|SPAM1_ENST00000460182.1_Silent_p.L200L|SPAM1_ENST00000223028.7_Silent_p.L200L|SPAM1_ENST00000439500.1_Silent_p.L200L	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	200					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGGATTTCCTGGTAGAGACTA	0.388000													22	51					4.47668e-21	5.62413e-21	1	1	0
ALG11	440138	broad.mit.edu	37	13	52602505	52602505	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr13:52602505G>T	ENST00000521508.1	+	4	1263	c.1258G>T	c.(1258-1260)Ggg>Tgg	p.G420W	ALG11_ENST00000519151.1_3'UTR|UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000523764.1_Missense_Mutation_p.G32V	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		ACACAATTCGGGGGGCCCAAA	0.423000													37	122					4.14194e-30	5.45982e-30	1	1	0
GLRA2	2742	broad.mit.edu	37	X	14627123	14627123	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chrX:14627123C>A	ENST00000218075.4	+	7	1256	c.726C>A	c.(724-726)acC>acA	p.T242T	GLRA2_ENST00000443437.2_Silent_p.T153T|GLRA2_ENST00000355020.4_Silent_p.T242T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	242					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GAAAGTTTACCTGCATTGAGG	0.348000													39	28					1.30916e-28	1.70633e-28	1	1	0
PI4KA	5297	broad.mit.edu	37	22	21153504	21153504	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr22:21153504C>T	ENST00000255882.6	-	16	1967	c.1881G>A	c.(1879-1881)ttG>ttA	p.L627L	PI4KA_ENST00000572273.1_Silent_p.L569L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	569					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTGTCCCTCAAGGCCACCG	0.567000													21	38					0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148968053	148968053	+	Silent	SNP	T	T	C			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr4:148968053T>C	ENST00000336498.3	+	20	2117	c.1878T>C	c.(1876-1878)ccT>ccC	p.P626P	ARHGAP10_ENST00000414545.2_Silent_p.P275P	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	626					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTGACAATCCTTACCCTTCCA	0.453000													31	87					0	0	1	0	0
WDR4	10785	broad.mit.edu	37	21	44272435	44272435	+	Splice_Site	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr21:44272435C>T	ENST00000398208.2	-	10	1035		c.e10-1		WDR4_ENST00000330317.2_Splice_Site|WDR4_ENST00000492742.1_Splice_Site	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4						tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CAGGAACAGACTGCAGGCGAC	0.572000													9	35					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26405815	26405815	+	Silent	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:26405815C>A	ENST00000289361.6	+	2	392	c.24C>A	c.(22-24)gcC>gcA	p.A8A	BTN3A1_ENST00000425234.2_Silent_p.A8A|BTN3A1_ENST00000414912.2_Silent_p.A8A|BTN3A1_ENST00000476549.2_Silent_p.A8A	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	8					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTTTCCTGGCCTTCCTTCTGC	0.473000													11	193					1.3612e-06	1.48495e-06	1	1	0
HHIPL2	79802	broad.mit.edu	37	1	222715408	222715408	+	Missense_Mutation	SNP	C	C	A	rs141743156		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:222715408C>A	ENST00000343410.6	-	3	1122	c.1064G>T	c.(1063-1065)gGg>gTg	p.G355V		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	355					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCCCCGTCCCCAGTGAATAT	0.527000													21	71					5.35356e-11	6.12841e-11	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128324327	128324327	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:128324327C>A	ENST00000389524.4	+	5	448	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	MYO7B_ENST00000409816.2_Missense_Mutation_p.P132Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.P132Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	132	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAGCTGCCCCCGCATGTCTTT	0.602000													13	49					8.60227e-14	1.00794e-13	1	1	0
PFKFB2	5208	broad.mit.edu	37	1	207245606	207245606	+	Silent	SNP	C	C	T	rs149056956		TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:207245606C>T	ENST00000367080.3	+	15	1532	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	PFKFB2_ENST00000545806.1_Silent_p.L437L|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000411990.2_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	470	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CTTTACGCCTCTGTCCAGTTC	0.517000													52	261					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590451	8590451	+	Silent	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:8590451C>T	ENST00000157600.3	+	4	817	c.585C>T	c.(583-585)ggC>ggT	p.G195G	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.G122G|LMCD1_ENST00000535732.1_Silent_p.G195G|LMCD1_ENST00000397386.3_Silent_p.G83G	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	195	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGGCCCTCGGCGTGGGAGAAG	0.582000													37	87					0	0	1	0	0
RAB24	53917	broad.mit.edu	37	5	176728947	176728947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr5:176728947C>A	ENST00000303270.6	-	6	1041	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RAB24_ENST00000303251.6_Missense_Mutation_p.A176S|RAB24_ENST00000393611.2_Missense_Mutation_p.A176S			Q969Q5	RAB24_HUMAN	RAB24, member RAS oncogene family	176					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGAAGGCAGCCACACTGACG	0.547000													27	100					9.04072e-19	1.11566e-18	1	1	0
CD1C	911	broad.mit.edu	37	1	158261969	158261969	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:158261969C>A	ENST00000368170.3	+	3	703	c.424C>A	c.(424-426)Ctg>Atg	p.L142M		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	142					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					ATTAGATTTACTGAGTTTCCA	0.473000													85	103					1.90436e-54	2.60912e-54	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10387106	10387106	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:10387106C>A	ENST00000328655.3	+	2	284	c.244C>A	c.(244-246)Cag>Aag	p.Q82K	PRSS55_ENST00000522210.1_Missense_Mutation_p.Q82K|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	82	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GTTTCCGTGGCAGGTGAGTAT	0.522000													97	206					3.99156e-37	5.40491e-37	1	1	0
HMGB4	127540	broad.mit.edu	37	1	34330332	34330332	+	Silent	SNP	G	G	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:34330332G>T	ENST00000522796.1	+	4	2445	c.540G>T	c.(538-540)ggG>ggT	p.G180G	HMGB4_ENST00000519684.1_Silent_p.G180G|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	180						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGTGCAGAGGGAAAAGAGTCA	0.453000													10	30					1.41608e-15	1.69345e-15	1	1	0
PLEC	5339	broad.mit.edu	37	8	145009223	145009223	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr8:145009223C>T	ENST00000322810.4	-	8	1361	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	PLEC_ENST00000356346.3_Missense_Mutation_p.A247T|PLEC_ENST00000398774.2_Missense_Mutation_p.A229T|PLEC_ENST00000354589.3_Missense_Mutation_p.A261T|PLEC_ENST00000345136.3_Missense_Mutation_p.A261T|PLEC_ENST00000436759.2_Missense_Mutation_p.A288T|PLEC_ENST00000527096.1_Missense_Mutation_p.A288T|PLEC_ENST00000354958.2_Missense_Mutation_p.A239T|PLEC_ENST00000357649.2_Missense_Mutation_p.A265T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	398	Actin-binding.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCATGGCGTCATACAGC	0.692000													47	202					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203894	135203894	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr9:135203894C>G	ENST00000372169.2	-	10	3273	c.3091G>C	c.(3091-3093)Gag>Cag	p.E1031Q	SETX_ENST00000224140.5_Missense_Mutation_p.E1031Q|SETX_ENST00000393220.1_Missense_Mutation_p.E1031Q			Q7Z333	SETX_HUMAN	senataxin	1031					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTGAGTTTCTCAAGACTCAGG	0.383000													35	88					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31803013	31803013	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr18:31803013C>T	ENST00000261592.5	-	1	502	c.205G>A	c.(205-207)Gag>Aag	p.E69K	RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Missense_Mutation_p.E69K|NOL4_ENST00000269185.4_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	69						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCGCGGACCTCGTCCGGCTGG	0.602000													15	63					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145311123	145311123	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:145311123delA	ENST00000342960.5	+	13	1857	c.1822delA	c.(1822-1824)aafs	p.K609fs	NBPF10_ENST00000369338.1_Frame_Shift_Del_p.K338fs|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Frame_Shift_Del_p.K338fs	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	609										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGATCAAGTGAAAAAGGAGGA	0.448													8	1672	---	---	---	---					
ADCY10	55811	broad.mit.edu	37	1	167849770	167849770	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr1:167849770delA	ENST00000367848.1	-	10	1319	c.822delT	c.(820-822)gcfs	p.A274fs	ADCY10_ENST00000545172.1_Frame_Shift_Del_p.A213fs|ADCY10_ENST00000367851.4_Frame_Shift_Del_p.A366fs			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	366					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATATATCCATAGCACATTCCA	0.517													14	152	---	---	---	---					
BMP10	27302	broad.mit.edu	37	2	69093162	69093162	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr2:69093162delA	ENST00000295379.1	-	2	1034	c.876delT	c.(874-876)agfs	p.S292fs		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	292					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCCCAGGTCCACTGGAAAAGC	0.478													19	73	---	---	---	---					
SH3BP5	9467	broad.mit.edu	37	3	15373833	15373835	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:15373833_15373835delTCC	ENST00000383791.3	-	1	301_303	c.81_83delGGA	c.(79-84)gaa>ga	p.EE27del	SH3BP5_ENST00000253688.5_5'UTR|SH3BP5_ENST00000426925.1_Intron|SH3BP5_ENST00000408919.3_Intron|SH3BP5_ENST00000465894.2_Intron	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	27	Glu-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						catcccctcttcctcctcctcct	0.719													2	4	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													8	512	---	---	---	---					
SMC4	10051	broad.mit.edu	37	3	160143940	160143940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr3:160143940delA	ENST00000357388.3	+	17	3008	c.2557delA	c.(2557-2559)aafs	p.K855fs	SMC4_ENST00000469762.1_Frame_Shift_Del_p.K830fs|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Frame_Shift_Del_p.K855fs|SMC4_ENST00000344722.5_Frame_Shift_Del_p.K855fs|SMC4_ENST00000462787.1_Frame_Shift_Del_p.K855fs	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	855					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGCCCCTGACAAAAAAAAGCA	0.323													16	394	---	---	---	---					
MAPK14	1432	broad.mit.edu	37	6	36068006	36068006	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:36068006delC	ENST00000229795.3	+	9	1171	c.724delC	c.(724-726)ccfs	p.P243fs	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	243	Protein kinase.				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						GACAGGAACACCCCCCGCTTA	0.428													12	506	---	---	---	---					
COL12A1	1303	broad.mit.edu	37	6	75804857	75804857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr6:75804857delC	ENST00000322507.8	-	60	8925	c.8616delG	c.(8614-8616)ggfs	p.G2872fs	COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Frame_Shift_Del_p.G2868fs|COL12A1_ENST00000416123.2_Frame_Shift_Del_p.G2796fs|COL12A1_ENST00000345356.6_Frame_Shift_Del_p.G1708fs	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2872	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCTGGCTTCCCACTTGGTC	0.483													24	50	---	---	---	---					
MCM10	55388	broad.mit.edu	37	10	13234530	13234530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr10:13234530delG	ENST00000378694.1	+	12	1782	c.1707delG	c.(1705-1707)ttfs	p.L569fs	MCM10_ENST00000378714.3_Frame_Shift_Del_p.L569fs|MCM10_ENST00000484800.2_Frame_Shift_Del_p.L570fs			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	570					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCGGATGTTGGAGATGAGGA	0.502													18	54	---	---	---	---					
COL4A2	1284	broad.mit.edu	37	13	111082292	111082292	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8085-01A-11D-2238-08	TCGA-55-8085-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4c252b2-a25d-46a3-9763-81518951f1ca	2fdffdc1-03d9-4f46-a32b-eb6a121b01a0	g.chr13:111082292delG	ENST00000360467.5	+	8	844	c.538delG	c.(538-540)acfs	p.D180fs		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	180					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGAGGAGCGCGACAGATATCG	0.428													25	71	---	---	---	---