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
GJB4	127534	broad.mit.edu	37	1	35226994	35226994	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:35226994G>A	ENST00000339480.1	+	2	509	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	47					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGGACGATGAGCAGAAGGA	0.592000													7	15					0	0	0.003080	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870214	51870214	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:51870214C>G	ENST00000371497.5	+	2	1104	c.217C>G	c.(217-219)Cat>Gat	p.H73D	TSHZ2_ENST00000329613.6_Missense_Mutation_p.H70D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H70D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	73					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TCCAGGAAGTCATTTGTCCAA	0.547000													21	53					0	0	0.003330	0	0
FSTL5	56884	broad.mit.edu	37	4	162376239	162376239	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:162376239G>C	ENST00000306100.5	-	15	2194	c.1758C>G	c.(1756-1758)atC>atG	p.I586M	FSTL5_ENST00000536695.1_Missense_Mutation_p.I585M|FSTL5_ENST00000427802.2_Missense_Mutation_p.I576M|FSTL5_ENST00000379164.4_Missense_Mutation_p.I585M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	586						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GTTGGGTGTGGATCGTGTGGT	0.443000													12	20					0	0	0.002450	0	0
HNF4G	3174	broad.mit.edu	37	8	76465285	76465285	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:76465285C>T	ENST00000396423.2	+	5	592	c.468C>T	c.(466-468)gtC>gtT	p.V156V	HNF4G_ENST00000354370.1_Silent_p.V119V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	119					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AGATCTCAGTCTCAAGCCCTG	0.348000													9	39					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179606343	179606343	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:179606343C>T	ENST00000589042.1	-	48	11841	c.11617G>A	c.(11617-11619)Gat>Aat	p.D3873N	TTN_ENST00000342175.6_Missense_Mutation_p.D3702N|TTN_ENST00000591111.1_Missense_Mutation_p.D3556N|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3510N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D3635N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3556							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGATCATCACCGTCAAAA	0.403000													26	70					0	0	0.003330	0	0
SIM1	6492	broad.mit.edu	37	6	100838847	100838847	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:100838847A>C	ENST00000369208.3	-	12	2473	c.1691T>G	c.(1690-1692)aTt>aGt	p.I564S	SIM1_ENST00000262901.4_Missense_Mutation_p.I564S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	564	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAGAGTTTCAATTTTGCTGGG	0.463000													16	99					0	0	0.006122	0	0
OR2A2	442361	broad.mit.edu	37	7	143807379	143807379	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:143807379A>T	ENST00000408979.2	+	1	773	c.704A>T	c.(703-705)aAg>aTg	p.K235M		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGCCGCATAAAGGCCTTCTCC	0.522000													31	116					0	0	0.008361	0	0
PDZD4	57595	broad.mit.edu	37	X	153070073	153070073	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:153070073G>T	ENST00000164640.4	-	8	1236	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	PDZD4_ENST00000544474.1_Missense_Mutation_p.L240I|PDZD4_ENST00000393758.2_Missense_Mutation_p.L274I	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	349						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCCGTGAGGCCCGGGACG	0.677000													8	38					0.000274275	0.000370035	0.004482	1	0
CNGB1	1258	broad.mit.edu	37	16	57954428	57954428	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:57954428G>A	ENST00000564448.1	-	19	1706	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	CNGB1_ENST00000251102.8_Missense_Mutation_p.S555F			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	555					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCTGGCCGTGGAGGCCGCACG	0.607000													18	37					0	0	0.008871	0	0
AKT1S1	84335	broad.mit.edu	37	19	50375081	50375081	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:50375081C>T	ENST00000391833.1	-	2	2434	c.445G>A	c.(445-447)Gag>Aag	p.E149K	AKT1S1_ENST00000391831.1_Missense_Mutation_p.E149K|AKT1S1_ENST00000391835.1_Missense_Mutation_p.E169K|AKT1S1_ENST00000391834.2_Missense_Mutation_p.E149K|AKT1S1_ENST00000344175.5_Missense_Mutation_p.E149K|AKT1S1_ENST00000391832.3_Missense_Mutation_p.E149K	NM_001278160.1	NP_001265089.1	Q96B36	AKTS1_HUMAN	AKT1 substrate 1 (proline-rich)	149					negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCTGTACTCTCGGGGTCTGAC	0.617000													29	91					0	0	0.002836	0	0
MARCH7	64844	broad.mit.edu	37	2	160605020	160605020	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:160605020G>C	ENST00000259050.3	+	5	1341	c.1219G>C	c.(1219-1221)Gat>Cat	p.D407H	MARCH7_ENST00000539065.1_Missense_Mutation_p.D351H|MARCH7_ENST00000409591.1_Missense_Mutation_p.D369H|MARCH7_ENST00000409175.1_Missense_Mutation_p.D407H	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	407	Ser-rich.						ligase activity|zinc ion binding	p.D407Y(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AGAGGGAAGAGATGAATCTTC	0.393000													16	51					0	0	0.003163	0	0
APOL1	8542	broad.mit.edu	37	22	36661519	36661519	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr22:36661519G>C	ENST00000319136.4	+	7	952	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	APOL1_ENST00000397278.3_Missense_Mutation_p.E213Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Missense_Mutation_p.E213Q|APOL1_ENST00000426053.1_Missense_Mutation_p.E195Q|APOL1_ENST00000397279.4_Missense_Mutation_p.E213Q|APOL1_ENST00000347595.7_Missense_Mutation_p.E92Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	213					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACCTGGGATGGAGTTGGGAAT	0.567000													27	63					0	0	0.005443	0	0
TG	7038	broad.mit.edu	37	8	133909924	133909924	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:133909924C>T	ENST00000220616.4	+	12	3072	c.3032C>T	c.(3031-3033)tCc>tTc	p.S1011F	TG_ENST00000377869.1_Missense_Mutation_p.S1011F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1011	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGCCGCTTTTCCCCGGACGAC	0.577000													35	263					0	0	0.003271	0	0
OR4K17	390436	broad.mit.edu	37	14	20586261	20586261	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:20586261C>T	ENST00000315543.4	+	1	696	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCATTGTTGCCAACAGTGGCA	0.408000													22	53					0	0	0.001523	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6114572	6114572	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:6114572C>T	ENST00000409021.3	-	2	455	c.6G>A	c.(4-6)tcG>tcA	p.S2S	JAKMIP1_ENST00000409371.3_Silent_p.S2S|JAKMIP1_ENST00000282924.5_Silent_p.S2S|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000410077.2_Silent_p.S2S|JAKMIP1_ENST00000409831.1_Silent_p.S2S	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	2	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTTTCTTCGACATGCTTC	0.632000													11	36					0	0	0.000978	0	0
STXBP4	252983	broad.mit.edu	37	17	53218710	53218710	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:53218710G>A	ENST00000376352.2	+	17	1736	c.1529G>A	c.(1528-1530)gGa>gAa	p.G510E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G488E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	510	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						ACAGCAGATGGAATCAAGTAC	0.358000													36	47					0	0	0.003610	0	0
ZNF70	7621	broad.mit.edu	37	22	24087275	24087275	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr22:24087275C>A	ENST00000341976.3	-	2	513	c.53G>T	c.(52-54)aGg>aTg	p.R18M		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	18						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TGACTCTAACCTGTTCTCAAA	0.458000													18	41					5.35267e-07	7.81065e-07	0.007413	1	0
KIAA1524	57650	broad.mit.edu	37	3	108308151	108308151	+	Silent	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:108308151C>G	ENST00000295746.8	-	1	148	c.72G>C	c.(70-72)gcG>gcC	p.A24A	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	24						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGTGGCGTTCGCCTCTGACT	0.587000													6	53					0	0	0.004482	0	0
PAX8	7849	broad.mit.edu	37	2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:113999249G>T	ENST00000429538.3	-	7	850	c.656C>A	c.(655-657)cCc>cAc	p.P219H	AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|PAX8_ENST00000348715.5_Missense_Mutation_p.P219H|PAX8_ENST00000263335.7_Missense_Mutation_p.P219H|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P219H|PAX8_ENST00000397647.3_Missense_Mutation_p.P219H|AC016683.6_ENST00000451179.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597000			T	PPARG	follicular thyroid		Thyroid dysgenesis						13	48					0.00185496	0.0024293	0.001855	1	0
INPP4B	8821	broad.mit.edu	37	4	143324110	143324110	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:143324110T>A	ENST00000513000.1	-	8	786	c.353A>T	c.(352-354)aAg>aTg	p.K118M	INPP4B_ENST00000308502.4_Missense_Mutation_p.K118M|INPP4B_ENST00000506217.1_Missense_Mutation_p.K118M|INPP4B_ENST00000262992.4_Missense_Mutation_p.K118M|INPP4B_ENST00000508116.1_Missense_Mutation_p.K118M|INPP4B_ENST00000509777.1_Missense_Mutation_p.K118M	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	118	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGACTTATCCTTGACATCATA	0.393000													8	48					0	0	0.004482	0	0
CCM2	83605	broad.mit.edu	37	7	45113931	45113931	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:45113931C>A	ENST00000475551.1	+	9	1720	c.960C>A	c.(958-960)cgC>cgA	p.R320R	CCM2_ENST00000258781.6_Silent_p.R326R|CCM2_ENST00000544363.1_Silent_p.R235R|CCM2_ENST00000474617.1_Silent_p.R229R|CCM2_ENST00000381112.3_Silent_p.R347R|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000541586.1_Silent_p.R268R			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	326					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACGAGTACCGCAATGGGGCCT	0.602000													27	22					2.48779e-11	3.96275e-11	0.005443	1	0
GPR63	81491	broad.mit.edu	37	6	97246991	97246991	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:97246991G>A	ENST00000229955.3	-	2	962	c.617C>T	c.(616-618)tCc>tTc	p.S206F	GPR63_ENST00000417980.1_Missense_Mutation_p.S206F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	206						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TACACAAAAGGAAGTTGCCCA	0.463000													28	104					0	0	0.004656	0	0
OR5P2	120065	broad.mit.edu	37	11	7818472	7818472	+	Silent	SNP	G	G	A	rs140666195		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:7818472G>A	ENST00000329434.2	-	1	48	c.18C>T	c.(16-18)gaC>gaT	p.D6D	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTGATTCCCGTCCTTCAGGG	0.418000													5	44					0	0	0.001984	0	0
RET	5979	broad.mit.edu	37	10	43596062	43596062	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:43596062C>T	ENST00000355710.3	+	2	461	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	RET_ENST00000340058.5_Missense_Mutation_p.R77C	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	77			R -> C (in HSCR1).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGGCACGTACCGCACACGGCT	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				12	38					0	0	0.001368	0	0
SALL4	57167	broad.mit.edu	37	20	50408136	50408136	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:50408136G>A	ENST00000217086.4	-	2	997	c.886C>T	c.(886-888)Cac>Tac	p.H296Y	SALL4_ENST00000395997.3_Missense_Mutation_p.H296Y|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	296					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGTTGGCGTGAGGTAGCTTG	0.597000													23	14					0	0	0.004656	0	0
AARD	441376	broad.mit.edu	37	8	117950508	117950508	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:117950508G>T	ENST00000378279.3	+	1	71	c.26G>T	c.(25-27)tGc>tTc	p.C9F		NM_001025357.2	NP_001020528.1	Q4LEZ3	AARD_HUMAN	alanine and arginine rich domain containing protein	9																	TTCCGCCGCTGCAGAGAGAGA	0.622000													6	60					3.59834e-05	5.01683e-05	0.001168	1	0
ABCA10	10349	broad.mit.edu	37	17	67218773	67218773	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:67218773C>T	ENST00000269081.4	-	5	1009	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ABCA10_ENST00000432313.2_Missense_Mutation_p.E34K|ABCA10_ENST00000423818.2_Missense_Mutation_p.E34K|ABCA10_ENST00000416101.2_Missense_Mutation_p.E34K	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	34					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCCACCATTTCATGGTATTTT	0.353000													45	127					0	0	0.003610	0	0
HTR7	3363	broad.mit.edu	37	10	92617025	92617025	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:92617025A>T	ENST00000371721.3	-	1	646	c.404T>A	c.(403-405)aTg>aAg	p.M135K	HTR7_ENST00000371719.2_Missense_Mutation_p.M135K|HTR7_ENST00000277874.6_Missense_Mutation_p.M135K|HTR7_ENST00000336152.3_Missense_Mutation_p.M135K			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	135					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GACGAAGGGCATGACCGCCAC	0.597000													8	52					0	0	0.004482	0	0
IGSF10	285313	broad.mit.edu	37	3	151161220	151161220	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:151161220C>A	ENST00000282466.3	-	5	5514	c.5515G>T	c.(5515-5517)Gca>Tca	p.A1839S		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1839					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTGGTGCTGCAATGACTTGT	0.473000													39	16					4.92203e-23	8.93098e-23	0.006230	1	0
DNAH3	55567	broad.mit.edu	37	16	20996594	20996594	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:20996594G>A	ENST00000261383.3	-	48	7469	c.7470C>T	c.(7468-7470)ctC>ctT	p.L2490L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2490	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTCGGCGAAGAGGAACACGG	0.502000													9	36					0	0	0.006214	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116421	28116421	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:28116421G>T	ENST00000330236.6	+	2	420	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W79L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TGCCATCAGTGGCTGAGGCCA	0.562000													41	41					2.2871e-25	4.29946e-25	0.007835	1	0
MPPED1	758	broad.mit.edu	37	22	43901455	43901455	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr22:43901455C>A	ENST00000417669.1	+	7	1384	c.940C>A	c.(940-942)Ccg>Acg	p.P314T	MPPED1_ENST00000414469.2_Missense_Mutation_p.P208T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P347T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P314T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P156T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P314T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	314							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCCGTGAACCCGCCCATAGT	0.627000													8	9					0.00307968	0.00399975	0.003080	1	0
GDPD5	81544	broad.mit.edu	37	11	75146633	75146633	+	Silent	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:75146633A>G	ENST00000526177.1	-	13	3201	c.1323T>C	c.(1321-1323)taT>taC	p.Y441Y	GDPD5_ENST00000529721.1_Silent_p.Y579Y|GDPD5_ENST00000336898.3_Silent_p.Y579Y|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.Y460Y|GDPD5_ENST00000533805.1_Silent_p.Y334Y|GDPD5_ENST00000376282.3_Silent_p.Y460Y			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	579	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGCTGTTGGCATATGTGTCAT	0.582000													33	38					0	0	0.002445	0	0
DNAH17	8632	broad.mit.edu	37	17	76557934	76557934	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:76557934C>T	ENST00000389840.5	-	12	1822	c.1698G>A	c.(1696-1698)caG>caA	p.Q566Q	DNAH17_ENST00000585328.1_Silent_p.Q566Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGCCGCCATCTGGGCATCGT	0.592000													25	26					0	0	0.003954	0	0
TNN	63923	broad.mit.edu	37	1	175086162	175086162	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:175086162A>G	ENST00000239462.4	+	10	2320	c.2207A>G	c.(2206-2208)gAc>gGc	p.D736G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	736	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCACCATTGACAGGTATGTG	0.592000													24	46					0	0	0.003330	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444362	5444362	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:5444362T>A	ENST00000300778.4	+	1	1022	c.932T>A	c.(931-933)cTc>cAc	p.L311H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTTTCCCTCAAAAATATG	0.393000													14	22					0	0	0.002450	0	0
BRAP	8315	broad.mit.edu	37	12	112103546	112103546	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:112103546T>C	ENST00000419234.4	-	6	986	c.793A>G	c.(793-795)Acg>Gcg	p.T265A	BRAP_ENST00000539060.1_Missense_Mutation_p.T86A|BRAP_ENST00000327551.6_Missense_Mutation_p.T235A	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	265					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						AGACACACCGTGCACTTGGGG	0.527000													25	33					0	0	0.003954	0	0
OR51F2	119694	broad.mit.edu	37	11	4842711	4842711	+	Silent	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:4842711A>T	ENST00000322110.5	+	1	161	c.96A>T	c.(94-96)ccA>ccT	p.P32P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGCATTCCAGGCCTGAAAG	0.478000													43	215					0	0	0.002852	0	0
NAT10	55226	broad.mit.edu	37	11	34144053	34144053	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:34144053G>A	ENST00000257829.3	+	9	1034	c.828G>A	c.(826-828)ctG>ctA	p.L276L	NAT10_ENST00000531159.2_Silent_p.L204L|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	276						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				AAAAGACCCTGAGGAGTACTG	0.507000													23	74					0	0	0.006320	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468969	137468969	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:137468969G>C	ENST00000296980.2	-	6	832	c.532C>G	c.(532-534)Ctc>Gtc	p.L178V	IL22RA2_ENST00000339602.3_Intron|IL22RA2_ENST00000349184.4_Missense_Mutation_p.L146V	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	178	Fibronectin type-III 3.				regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		GGAGCATGGAGAATTACCAAC	0.294000													30	56					0	0	0.004878	0	0
PMS2CL	441194	broad.mit.edu	37	7	6777145	6777145	+	RNA	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:6777145G>A	ENST00000486256.1	+	0	1272					NR_002217.1																						GGGGACAGGGGCTCGCAGGAA	0.567000													25	90					0	0	0.003954	0	0
CNTN5	53942	broad.mit.edu	37	11	100170065	100170065	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:100170065G>A	ENST00000524871.1	+	20	2847	c.2557G>A	c.(2557-2559)Gtt>Att	p.V853I	CNTN5_ENST00000528682.1_Missense_Mutation_p.V853I|CNTN5_ENST00000527185.1_Missense_Mutation_p.V853I|CNTN5_ENST00000279463.3_Missense_Mutation_p.V853I|CNTN5_ENST00000418526.2_Missense_Mutation_p.V779I|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	853	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAAAGTTGGCGTTTATAACAA	0.368000													17	51					0	0	0.001882	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744567	140744567	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140744567G>A	ENST00000518069.1	+	1	670	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTACTCTCCGGCACCACGCA	0.577000													18	45					0	0	0.006122	0	0
GRM1	2911	broad.mit.edu	37	6	146351145	146351145	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:146351145C>A	ENST00000392299.2	+	2	962	c.492C>A	c.(490-492)tcC>tcA	p.S164S	GRM1_ENST00000507907.1_Silent_p.S164S|GRM1_ENST00000282753.1_Silent_p.S164S|GRM1_ENST00000492807.2_Silent_p.S164S|GRM1_ENST00000361719.2_Silent_p.S164S|GRM1_ENST00000355289.4_Silent_p.S164S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	164					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GTCCCGGCTCCAGCTCTGTAG	0.567000													28	53					3.73988e-18	6.57631e-18	0.006320	1	0
OR12D3	81797	broad.mit.edu	37	6	29342228	29342228	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:29342228G>T	ENST00000396806.3	-	1	840	c.837C>A	c.(835-837)gcC>gcA	p.A279A	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						CAGGGGTGACGGCGCTATACA	0.453000													34	32					1.36615e-20	2.42957e-20	0.002836	1	0
GJB5	2709	broad.mit.edu	37	1	35222995	35222995	+	Missense_Mutation	SNP	C	C	A	rs116644255	byFrequency	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:35222995C>A	ENST00000338513.1	+	2	237	c.64C>A	c.(64-66)Cgc>Agc	p.R22S		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	22					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AGCCTTTGGGCGCATCTGGCT	0.562000													8	33					0.000274275	0.000370035	0.004482	1	0
OR5L2	26338	broad.mit.edu	37	11	55595344	55595344	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:55595344C>A	ENST00000378397.1	+	1	650	c.650C>A	c.(649-651)tCc>tAc	p.S217Y		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ATCCTCACCTCCTACCTGCTA	0.498000										HNSCC(27;0.073)			39	82					6.29468e-14	1.04245e-13	0.004878	1	0
DMKN	93099	broad.mit.edu	37	19	35990868	35990868	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:35990868G>C	ENST00000339686.3	-	13	1527	c.1351C>G	c.(1351-1353)Cct>Gct	p.P451A	DMKN_ENST00000429837.1_Missense_Mutation_p.P424A|DMKN_ENST00000492341.2_Missense_Mutation_p.P98A|DMKN_ENST00000414866.2_Missense_Mutation_p.P164A|DMKN_ENST00000408915.2_Missense_Mutation_p.P65A|DMKN_ENST00000419602.1_Missense_Mutation_p.P440A|DMKN_ENST00000402589.2_Missense_Mutation_p.P178A|DMKN_ENST00000480502.1_Missense_Mutation_p.P159A|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000467637.1_Missense_Mutation_p.P176A|DMKN_ENST00000443640.1_Missense_Mutation_p.P228A|DMKN_ENST00000602781.1_Missense_Mutation_p.P178A|DMKN_ENST00000472252.2_Missense_Mutation_p.P98A|DMKN_ENST00000436012.1_Missense_Mutation_p.P147A	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	451						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTTTGCAGGGGTCTTGACT	0.572000													22	57					0	0	0.001882	0	0
KIF3B	9371	broad.mit.edu	37	20	30898135	30898135	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:30898135G>A	ENST00000375712.3	+	2	722	c.555G>A	c.(553-555)aaG>aaA	p.K185K		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	185	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTGTCACCAAGAGTGTGAAGG	0.483000													33	50					0	0	0.002836	0	0
PIWIL4	143689	broad.mit.edu	37	11	94308235	94308235	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:94308235C>G	ENST00000299001.6	+	3	448	c.237C>G	c.(235-237)gaC>gaG	p.D79E	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	79					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACAAACAGGACTTTATGGATT	0.353000													16	21					0	0	0.003163	0	0
AXDND1	126859	broad.mit.edu	37	1	179460779	179460779	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:179460779G>T	ENST00000367618.3	+	19	2585	c.2198G>T	c.(2197-2199)aGt>aTt	p.S733I	AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	733										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GAGGAGGAAAGTGCTGAGAAA	0.418000													26	24					2.79863e-10	4.34726e-10	0.004656	1	0
VCAN	1462	broad.mit.edu	37	5	82817885	82817885	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:82817885T>A	ENST00000265077.3	+	7	4325	c.3760T>A	c.(3760-3762)Tca>Aca	p.S1254T	VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.S1206T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.S1254T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1254	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATTGGAGAATCAACATCTCA	0.443000													25	50					0	0	0.003954	0	0
TUBA3D	113457	broad.mit.edu	37	2	132236883	132236883	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:132236883G>A	ENST00000321253.6	+	3	336	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	77					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TTTTGCAGATGAAGTGCGCAC	0.507000													42	116					0	0	0.003214	0	0
FGD5	152273	broad.mit.edu	37	3	14861684	14861684	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:14861684C>A	ENST00000285046.5	+	1	1216	c.1106C>A	c.(1105-1107)gCg>gAg	p.A369E	FGD5_ENST00000543601.1_Missense_Mutation_p.A128E	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	369					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTGAATCAGCGAAAGGTTTA	0.557000													17	36					1.15088e-07	1.71128e-07	0.004007	1	0
SLC6A18	348932	broad.mit.edu	37	5	1243760	1243760	+	Missense_Mutation	SNP	G	G	T	rs138053797		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:1243760G>T	ENST00000324642.3	+	9	1345	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G337W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	408					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTCTTCTTCGGGATGCTGTT	0.642000													13	58					8.60227e-14	1.41711e-13	0.004007	1	0
GBA	2629	broad.mit.edu	37	1	155205005	155205005	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:155205005C>T	ENST00000428024.2	-	9	1727	c.1225G>A	c.(1225-1227)Gtt>Att	p.V409I	GBA_ENST00000427500.2_Missense_Mutation_p.V447I|GBA_ENST00000327247.5_Missense_Mutation_p.V496I|GBA_ENST00000368373.3_Missense_Mutation_p.V496I|GBA_ENST00000536770.1_Missense_Mutation_p.V383I	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	496			N -> S (in GD1; common mutation; associated with susceptibility to Parkinson disease; alters interaction with saposin-C and membranes and thereby reduces enzyme activity; mild).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	ACGACCACAACAGCAGAGCCA	0.587000									Gaucher disease type I				9	107					0	0	0.006214	0	0
TMEM255B	348013	broad.mit.edu	37	13	114514710	114514710	+	Splice_Site	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:114514710C>T	ENST00000375353.3	+	9	842	c.813_splice	c.e9-1	p.P272_splice	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B																		TTATTGCAGCCCTGCAGCCGC	0.652000													14	14					0	0	0.004990	0	0
THSD7B	80731	broad.mit.edu	37	2	138330082	138330082	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:138330082G>A	ENST00000409968.1	+	17	3557	c.3379G>A	c.(3379-3381)Gag>Aag	p.E1127K	THSD7B_ENST00000413152.2_Missense_Mutation_p.E1099K|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1130K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTCCCAATGAGTGTGTCAT	0.463000													14	72					0	0	0.002450	0	0
FRG1B	284802	broad.mit.edu	37	20	29632621	29632621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:29632621C>T	ENST00000278882.3	+	8	816	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.Q146*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAAGAAATTTCAGAGCTTCCA	0.289000													20	395					0	0	0.003330	0	0
EFNB2	1948	broad.mit.edu	37	13	107165024	107165024	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:107165024C>A	ENST00000245323.4	-	2	408	c.259G>T	c.(259-261)Gac>Tac	p.D87Y		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	87					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTGCATCTGTCTGCTTGGTCT	0.373000													26	50					3.28513e-13	5.35544e-13	0.003954	1	0
JAG1	182	broad.mit.edu	37	20	10622246	10622246	+	Silent	SNP	G	G	A	rs147793030	byFrequency	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:10622246G>A	ENST00000254958.5	-	23	3293	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	JAG1_ENST00000423891.2_Silent_p.F767F	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	926					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						AGGGGTGGACGAAGCACTGGT	0.612000									Alagille Syndrome				19	43					0	0	0.006122	0	0
GRIA4	2893	broad.mit.edu	37	11	105775936	105775936	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:105775936G>T	ENST00000393127.2	+	9	1513	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V	GRIA4_ENST00000282499.5_Missense_Mutation_p.G356V|GRIA4_ENST00000525187.1_Missense_Mutation_p.G356V|GRIA4_ENST00000530497.1_Missense_Mutation_p.G356V|GRIA4_ENST00000428631.2_Missense_Mutation_p.G356V|GRIA4_ENST00000393125.2_Missense_Mutation_p.G356V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	356					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CGAATTCAAGGGCTGACAGGG	0.403000													16	50					6.49762e-13	1.0565e-12	0.006122	1	0
CACNA1C	775	broad.mit.edu	37	12	2797755	2797755	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:2797755G>T	ENST00000399655.1	+	46	6192	c.5927G>T	c.(5926-5928)gGg>gTg	p.G1976V	CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1984V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G2001V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1982V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G2011V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1984V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G2017V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1993V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G2047V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1995V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G2004V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1995V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.G2024V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G2047V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1976V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1995V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1996V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G2011V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1976V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2059					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGCTTGAGGGGGTCGAGTCC	0.692000													45	63					1.81118e-26	3.45671e-26	0.003610	1	0
ZFPM2	23414	broad.mit.edu	37	8	106811019	106811019	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:106811019G>T	ENST00000407775.2	+	7	1057	c.807G>T	c.(805-807)ttG>ttT	p.L269F	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L137F|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L137F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	269					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGGCCCATTTGATGTACTACT	0.507000													64	58					3.84483e-29	7.40574e-29	0.003610	1	0
KDM5C	8242	broad.mit.edu	37	X	53245159	53245159	+	Splice_Site	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:53245159C>G	ENST00000452825.3	-	5	1113		c.e5-1		KDM5C_ENST00000404049.3_Splice_Site|KDM5C_ENST00000375379.3_Splice_Site|KDM5C_ENST00000375383.3_Splice_Site|KDM5C_ENST00000375401.3_Splice_Site	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCTCCTTATCTGGGAGAGAG	0.547000			"""N, F, S"""		clear cell renal carcinoma								31	47					0	0	0.008361	0	0
GPR162	27239	broad.mit.edu	37	12	6933468	6933468	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:6933468T>G	ENST00000311268.3	+	2	1191	c.404T>G	c.(403-405)cTg>cGg	p.L135R	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	135						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						AAGCAGGCACTGCATGCCGTC	0.627000													21	71					0	0	0.002299	0	0
KIAA1715	80856	broad.mit.edu	37	2	176803080	176803080	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:176803080G>T	ENST00000272748.4	-	11	1091	c.844C>A	c.(844-846)Cat>Aat	p.H282N	KIAA1715_ENST00000544803.1_Missense_Mutation_p.H313N|KIAA1715_ENST00000535310.1_Missense_Mutation_p.H207N	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	282						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			ATGCCATTATGAGAAAAACAC	0.318000													23	120					1.1804e-14	1.97574e-14	0.003954	1	0
CHAMP1	283489	broad.mit.edu	37	13	115090647	115090647	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:115090647G>T	ENST00000361283.1	+	3	1639	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	ZN828_HUMAN	chromosome alignment maintaining phosphoprotein 1	444	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAAACCCTCAGGGTCACCAGA	0.547000													41	92					2.86225e-05	3.99949e-05	0.005524	1	0
PPM1H	57460	broad.mit.edu	37	12	63042377	63042377	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:63042377C>A	ENST00000228705.6	-	10	1737	c.1437G>T	c.(1435-1437)cgG>cgT	p.R479R	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	479	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCAGCACACCCCGGGCACGCA	0.517000													19	53					8.00594e-06	1.13903e-05	0.007413	1	0
PTPN21	11099	broad.mit.edu	37	14	88945335	88945335	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:88945335G>A	ENST00000556564.1	-	13	2724	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L	PTPN21_ENST00000328736.3_Silent_p.L814L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	814						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTTTCTTCAGAGAGTCCCTC	0.667000													8	56					0	0	0.006214	0	0
NTRK3	4916	broad.mit.edu	37	15	88669506	88669506	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:88669506C>T	ENST00000394480.1	-	13	1713	c.1392G>A	c.(1390-1392)atG>atA	p.M464I	NTRK3_ENST00000360948.2_Missense_Mutation_p.M464I|NTRK3_ENST00000558676.1_Missense_Mutation_p.M456I|NTRK3_ENST00000542733.2_Missense_Mutation_p.M366I|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000317501.3_Missense_Mutation_p.M464I|NTRK3_ENST00000540489.2_Missense_Mutation_p.M464I|NTRK3_ENST00000557856.1_Missense_Mutation_p.M456I|NTRK3_ENST00000357724.2_Missense_Mutation_p.M456I|NTRK3_ENST00000355254.2_Missense_Mutation_p.M464I	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	464					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTTACCCTTCATTCCAAATT	0.438000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			10	24					0	0	0.008291	0	0
CDR1	1038	broad.mit.edu	37	X	139866217	139866217	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:139866217G>T	ENST00000370532.2	-	1	506	c.315C>A	c.(313-315)ttC>ttA	p.F105L		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	105	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGTCTTCCAGGAAATCCGTGT	0.448000													28	126					2.44723e-14	4.08524e-14	0.004656	1	0
NIPAL4	348938	broad.mit.edu	37	5	156895786	156895786	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:156895786G>T	ENST00000311946.7	+	4	693	c.577G>T	c.(577-579)Gtc>Ttc	p.V193F	NIPAL4_ENST00000435489.2_Missense_Mutation_p.V174F|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	193						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGCAACAGTCGTCACGCCTCT	0.507000													34	60					1.36161e-19	2.41465e-19	0.004289	1	0
RECQL	5965	broad.mit.edu	37	12	21636379	21636379	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:21636379T>A	ENST00000444129.2	-	6	1099	c.631A>T	c.(631-633)Agg>Tgg	p.R211W	RECQL_ENST00000421138.2_Missense_Mutation_p.R211W	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	211	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GTAAATCTCCTTGCTTCATAG	0.363000								Other identified genes with known or suspected DNA repair function					22	31					0	0	0.002299	0	0
FGD4	121512	broad.mit.edu	37	12	32764101	32764101	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:32764101G>A	ENST00000427716.2	+	10	1646	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	FGD4_ENST00000534526.2_Missense_Mutation_p.E545K|FGD4_ENST00000531134.1_Missense_Mutation_p.E493K|FGD4_ENST00000266482.3_Missense_Mutation_p.E160K|FGD4_ENST00000546442.1_Missense_Mutation_p.E315K|FGD4_ENST00000525053.1_Missense_Mutation_p.E520K|FGD4_ENST00000381025.3_Missense_Mutation_p.E160K	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	408					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGAGATTTATGAAATGTTGGG	0.368000													15	60					0	0	0.004990	0	0
FAM84A	151354	broad.mit.edu	37	2	14774244	14774244	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:14774244C>A	ENST00000295092.2	+	2	429	c.141C>A	c.(139-141)cgC>cgA	p.R47R	FAM84A_ENST00000331243.4_Silent_p.R47R	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	47										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			TGGACGAACGCGGGCAGCCCG	0.667000													8	19					5.18039e-06	7.42088e-06	0.003080	1	0
OR2H1	26716	broad.mit.edu	37	6	29430054	29430054	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:29430054C>A	ENST00000377136.1	+	4	973	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.Q170K|OR2H1_ENST00000377132.1_Missense_Mutation_p.Q170K|OR2H1_ENST00000396792.2_Missense_Mutation_p.Q170K|OR2H1_ENST00000442615.1_Missense_Mutation_p.Q170K			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CTGTCCCCACCAGCAGATAGA	0.522000													101	143					4.04957e-52	7.99695e-52	0.003610	1	0
COL22A1	169044	broad.mit.edu	37	8	139890292	139890292	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:139890292G>T	ENST00000303045.6	-	3	805	c.359C>A	c.(358-360)gCg>gAg	p.A120E	COL22A1_ENST00000435777.1_Missense_Mutation_p.A120E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	120	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTAGCGGAGCGCGTCTCCCGT	0.706000										HNSCC(7;0.00092)			5	15					0.00116845	0.00154314	0.001168	1	0
NYAP1	222950	broad.mit.edu	37	7	100086413	100086413	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:100086413C>T	ENST00000423930.1	+	4	1228	c.1069C>T	c.(1069-1071)Cta>Tta	p.L357L	NYAP1_ENST00000300179.2_Silent_p.L357L|NYAP1_ENST00000454988.1_Silent_p.L300L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	357	Pro-rich.																GGTCTCAAGGCTACCTGTCCT	0.697000													93	43					0	0	0.003610	0	0
TOMM20L	387990	broad.mit.edu	37	14	58863044	58863044	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:58863044G>A	ENST00000360945.2	+	2	207	c.165G>A	c.(163-165)gaG>gaA	p.E55E		NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	55					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						AAAAGGCTGAGGAGCAGGGCA	0.652000													8	19					0	0	0.004482	0	0
PER2	8864	broad.mit.edu	37	2	239186426	239186426	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:239186426C>G	ENST00000254657.3	-	2	431	c.152G>C	c.(151-153)cGg>cCg	p.R51P	PER2_ENST00000440245.1_Missense_Mutation_p.R51P|PER2_ENST00000355768.2_Missense_Mutation_p.R51P|PER2_ENST00000254658.3_Missense_Mutation_p.R51P	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	51					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTGCGAGTCCCGCCCCGTGGA	0.642000													15	58					0	0	0.004990	0	0
OR2G3	81469	broad.mit.edu	37	1	247769570	247769570	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:247769570T>C	ENST00000320002.2	+	1	715	c.683T>C	c.(682-684)aTc>aCc	p.I228T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGCTGAGGATCAAATCAGTA	0.443000													17	27					0	0	0.004990	0	0
FAM214A	56204	broad.mit.edu	37	15	52901305	52901305	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:52901305C>T	ENST00000261844.7	-	6	1958	c.1806G>A	c.(1804-1806)caG>caA	p.Q602Q	FAM214A_ENST00000546305.2_Silent_p.Q609Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	602																	AACTTTTGTTCTGTGTCTCCT	0.328000													36	61					0	0	0.006230	0	0
FSTL5	56884	broad.mit.edu	37	4	162841712	162841712	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:162841712C>T	ENST00000306100.5	-	4	689	c.253G>A	c.(253-255)Gca>Aca	p.A85T	FSTL5_ENST00000536695.1_Missense_Mutation_p.A84T|FSTL5_ENST00000427802.2_Missense_Mutation_p.A84T|FSTL5_ENST00000379164.4_Missense_Mutation_p.A84T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	85	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GCACATTCTGCTTGCCCTGTC	0.453000													21	15					0	0	0.002780	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775797	77775797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:77775797C>T	ENST00000521891.2	+	11	10295	c.9847C>T	c.(9847-9849)Cag>Tag	p.Q3283*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q3257*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q3234*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q3238*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3234						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)			TGGAACAGTGCAGGGGGGATA	0.527000										HNSCC(33;0.089)			20	129					0	0	0.001882	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737656	75737656	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:75737656G>A	ENST00000312442.2	+	2	404	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.E120K	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	120						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TTGGTATAATGAAACCCAATT	0.333000													25	17					0	0	0.003954	0	0
CDR1	1038	broad.mit.edu	37	X	139866216	139866216	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:139866216G>T	ENST00000370532.2	-	1	507	c.316C>A	c.(316-318)Ctg>Atg	p.L106M		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	106	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GGGTCTTCCAGGAAATCCGTG	0.448000													29	127					1.77063e-15	2.98764e-15	0.005443	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100491164	100491164	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:100491164G>A	ENST00000279907.7	-	6	860	c.648C>T	c.(646-648)atC>atT	p.I216I	UHRF1BP1L_ENST00000356828.3_Silent_p.I216I	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	216										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						GTGTGACTCTGATTTTTGATT	0.338000													14	23					0	0	0.001855	0	0
PBK	55872	broad.mit.edu	37	8	27678139	27678139	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:27678139C>G	ENST00000301905.4	-	6	1001	c.538G>C	c.(538-540)Gaa>Caa	p.E180Q	PBK_ENST00000522944.1_Missense_Mutation_p.E180Q	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	180	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TTAATTGTTTCAAAATCGCCT	0.289000													6	61					0	0	0.003080	0	0
F8	2157	broad.mit.edu	37	X	154250791	154250791	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:154250791G>A	ENST00000360256.4	-	1	237	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	13					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AATCGCAAAAGGCACAGAAAG	0.428000													22	120					0	0	0.001882	0	0
ACE	1636	broad.mit.edu	37	17	61562265	61562265	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61562265C>T	ENST00000577647.1	+	1	82	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	ACE_ENST00000490216.2_Missense_Mutation_p.L13F|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Missense_Mutation_p.L13F|ACE_ENST00000290863.6_Missense_Mutation_p.L13F|ACE_ENST00000290866.4_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	0					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTTCCCAGCCTCCTCTTCCT	0.647000													4	14					0	0	0.000602	0	0
ROS1	6098	broad.mit.edu	37	6	117609682	117609682	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:117609682G>A	ENST00000368508.3	-	43	7215	c.7017C>T	c.(7015-7017)caC>caT	p.H2339H	ROS1_ENST00000368507.3_Silent_p.H2333H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2339					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATATCCACTGTGAGTGAGAC	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								30	13					0	0	0.007291	0	0
C1orf111	284680	broad.mit.edu	37	1	162344230	162344230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:162344230C>A	ENST00000367935.4	-	3	473	c.394G>T	c.(394-396)Gag>Tag	p.E132*	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	132										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			GCCATGTCCTCAGAAAGGCAG	0.552000													56	352					3.76997e-23	6.86046e-23	0.003610	1	0
MAGEC3	139081	broad.mit.edu	37	X	140985061	140985061	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:140985061A>C	ENST00000298296.1	+	7	1517	c.1517A>C	c.(1516-1518)gAg>gCg	p.E506A	MAGEC3_ENST00000443323.2_Missense_Mutation_p.E128A|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E208A|MAGEC3_ENST00000536088.1_Missense_Mutation_p.E208A|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E208A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	506	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTTCATAGAGCTAATTTTT	0.443000													49	189					0	0	0.003610	0	0
OCA2	4948	broad.mit.edu	37	15	28195693	28195693	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:28195693G>C	ENST00000382996.2	-	19	2078	c.1969C>G	c.(1969-1971)Caa>Gaa	p.Q657E	OCA2_ENST00000354638.3_Intron|OCA2_ENST00000353809.5_Intron			Q04671	P_HUMAN	oculocutaneous albinism II	657					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCCAGCTTGAACCAAGCCC	0.438000									Oculocutaneous Albinism				4	12					0	0	0.000248	0	0
HECTD1	25831	broad.mit.edu	37	14	31613401	31613401	+	Silent	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:31613401T>C	ENST00000399332.1	-	17	3182	c.2694A>G	c.(2692-2694)gtA>gtG	p.V898V	HECTD1_ENST00000553700.1_Silent_p.V898V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	898					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCTTCAAAAGTACAATTAGGT	0.313000													10	33					0	0	0.000978	0	0
GPR156	165829	broad.mit.edu	37	3	119912216	119912216	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:119912216G>A	ENST00000464295.1	-	4	734	c.289C>T	c.(289-291)Ctc>Ttc	p.L97F	GPR156_ENST00000315843.3_Missense_Mutation_p.L97F|GPR156_ENST00000461057.1_Missense_Mutation_p.L97F			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	97						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CTGTAAGTGAGACAACTGCCC	0.433000													51	26					0	0	0.003610	0	0
LCT	3938	broad.mit.edu	37	2	136575399	136575399	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:136575399C>A	ENST00000264162.2	-	6	1229	c.1219G>T	c.(1219-1221)Ggg>Tgg	p.G407W		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	407	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGCTCACCCCTCTCCCACCC	0.617000													66	78					4.09171e-25	7.66889e-25	0.003610	1	0
KRT39	390792	broad.mit.edu	37	17	39122876	39122876	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:39122876G>C	ENST00000355612.2	-	1	268	c.233C>G	c.(232-234)gCc>gGc	p.A78G	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	78	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				AGAAAAACGGGCATTGAAGTT	0.512000													38	171					0	0	0.004289	0	0
CSH2	1443	broad.mit.edu	37	17	61949552	61949552	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61949552C>A	ENST00000392886.2	-	5	739	c.588G>T	c.(586-588)atG>atT	p.M196I	CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	196					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CGACCTTGTCCATGTCCTTCC	0.562000													245	50					5.15866e-114	1.03173e-113	0.003610	1	0
SRBD1	55133	broad.mit.edu	37	2	45829179	45829179	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:45829179C>T	ENST00000263736.4	-	3	186	c.124G>A	c.(124-126)Gag>Aag	p.E42K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	42					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTGGGGCTCCCAGGCACTA	0.453000													30	89					0	0	0.002096	0	0
TMEM144	55314	broad.mit.edu	37	4	159162747	159162747	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:159162747A>G	ENST00000296529.6	+	11	1409	c.889A>G	c.(889-891)Ata>Gta	p.I297V	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	297						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CAGTTTTCCAATAATCACTGC	0.393000													19	78					0	0	0.006122	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762784	37762784	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:37762784G>T	ENST00000302584.4	-	2	289	c.69C>A	c.(67-69)gaC>gaA	p.D23E		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	23					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CGTCTTCGCCGTCGCCCCAGC	0.771000													4	7					0.00024832	0.000339407	0.000248	1	0
OGT	8473	broad.mit.edu	37	X	70787518	70787518	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:70787518G>A	ENST00000373719.3	+	20	2975	c.2758G>A	c.(2758-2760)Gtc>Atc	p.V920I	OGT_ENST00000373701.3_Missense_Mutation_p.V910I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	920					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCTGGCTGATGTCTGCTTGGA	0.522000													17	19					0	0	0.004007	0	0
CXorf61	203413	broad.mit.edu	37	X	115592960	115592960	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:115592960G>T	ENST00000371894.4	-	2	436	c.290C>A	c.(289-291)aCt>aAt	p.T97N		NM_001017978.2	NP_001017978.1	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	97						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						GCTAAGTAGAGTATGTTCCAG	0.423000													35	103					1.61788e-16	2.77477e-16	0.002445	1	0
LLGL1	3996	broad.mit.edu	37	17	18138449	18138449	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:18138449G>T	ENST00000316843.4	+	10	1203	c.1107G>T	c.(1105-1107)ctG>ctT	p.L369L		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	369					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					AAGAGGAGCTGGTGGTGCTGG	0.647000													27	11					2.48779e-11	3.96275e-11	0.005443	1	0
OR10A2	341276	broad.mit.edu	37	11	6891224	6891224	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:6891224C>T	ENST00000307322.4	+	1	301	c.239C>T	c.(238-240)tCc>tTc	p.S80F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACAACCATCTCCTTCCTTGGC	0.493000													57	86					0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90406094	90406094	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:90406094G>A	ENST00000369393.3	-	60	9483	c.9368C>T	c.(9367-9369)tCa>tTa	p.S3123L	MDN1_ENST00000428876.1_Missense_Mutation_p.S3123L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3123					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGCTACTGAAGAGATAGC	0.493000													10	63					0	0	0.000978	0	0
CYLD	1540	broad.mit.edu	37	16	50815257	50815257	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:50815257G>T	ENST00000540145.1	+	10	2034	c.1619G>T	c.(1618-1620)aGg>aTg	p.R540M	CYLD_ENST00000568704.2_Intron|CYLD_ENST00000311559.9_Missense_Mutation_p.R540M|CYLD_ENST00000566206.1_Missense_Mutation_p.R537M|CYLD_ENST00000569418.1_Missense_Mutation_p.R537M|CYLD_ENST00000398568.2_Missense_Mutation_p.R537M|CYLD_ENST00000564326.1_Missense_Mutation_p.R537M|CYLD_ENST00000427738.3_Missense_Mutation_p.R540M			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	540	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGAGCTGCAGGCCTGACTCT	0.478000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				13	33					2.61681e-11	4.14715e-11	0.002450	1	0
GSG1L	146395	broad.mit.edu	37	16	27802705	27802705	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:27802705C>T	ENST00000380898.2	-	8	1120	c.571G>A	c.(571-573)Ggg>Agg	p.G191R	GSG1L_ENST00000447459.2_Missense_Mutation_p.G328R|GSG1L_ENST00000380897.3_Missense_Mutation_p.G173R|GSG1L_ENST00000569166.1_Missense_Mutation_p.G191R|GSG1L_ENST00000395724.3_Missense_Mutation_p.G277R			Q6UXU4	GSG1L_HUMAN	GSG1-like	328						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						ACCCAGTGCCCCAAGACCCAG	0.657000													17	24					0	0	0.006122	0	0
LMF1	64788	broad.mit.edu	37	16	920844	920844	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:920844C>T	ENST00000262301.11	-	8	1135	c.1117G>A	c.(1117-1119)Gtc>Atc	p.V373I	LMF1_ENST00000399843.2_Missense_Mutation_p.V373I|LMF1_ENST00000543238.1_Missense_Mutation_p.V136I|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Missense_Mutation_p.V156I	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	373						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGCAGGACGCCCAGCGAG	0.642000													4	18					0	0	0.000248	0	0
GATA2	2624	broad.mit.edu	37	3	128205123	128205123	+	Silent	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:128205123A>T	ENST00000341105.2	-	3	649	c.318T>A	c.(316-318)tcT>tcA	p.S106S	GATA2_ENST00000430265.2_Silent_p.S106S|GATA2_ENST00000487848.1_Silent_p.S106S	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	106					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCGCAGCGGCAGAGAGGGCTG	0.692000			Mis		AML(CML blast transformation)								11	6					0	0	0.008291	0	0
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:70293595C>A	ENST00000377844.4	-	9	2680	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	KLHL1_ENST00000545028.1_Nonsense_Mutation_p.G448*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	641					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448000													18	45					5.35267e-07	7.81065e-07	0.007413	1	0
MAGEB1	4112	broad.mit.edu	37	X	30268895	30268895	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:30268895G>T	ENST00000378981.3	+	4	606	c.285G>T	c.(283-285)caG>caT	p.Q95H	MAGEB1_ENST00000397548.2_Missense_Mutation_p.Q95H|MAGEB1_ENST00000397550.1_Missense_Mutation_p.Q95H	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	95										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GTTTCTCCCAGGCCACAACAT	0.512000													7	17					8.12818e-05	0.00011183	0.001984	1	0
EFHC1	114327	broad.mit.edu	37	6	52288818	52288818	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:52288818G>C	ENST00000371068.5	+	2	241	c.138G>C	c.(136-138)ggG>ggC	p.G46G	EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_Silent_p.G27G	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	46						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAACAGTTGGGATAGGCGGAG	0.498000													17	57					0	0	0.008871	0	0
ZEB1	6935	broad.mit.edu	37	10	31799672	31799672	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:31799672C>A	ENST00000446923.2	+	5	896	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	ZEB1_ENST00000542815.3_Missense_Mutation_p.L118M|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.L186M|ZEB1_ENST00000320985.10_Missense_Mutation_p.L185M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L165M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	185					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTTTACCTCTCTGAAAGAACA	0.353000													5	36					0.000602214	0.000805526	0.000602	1	0
APBB3	10307	broad.mit.edu	37	5	139938171	139938171	+	Nonstop_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:139938171T>A	ENST00000357560.4	-	13	1903	c.1460A>T	c.(1459-1461)tAa>tTa	p.*487L	APBB3_ENST00000354402.5_Nonstop_Mutation_p.*494L|APBB3_ENST00000356738.2_Nonstop_Mutation_p.*492L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000508496.2_Nonstop_Mutation_p.*264L|APBB3_ENST00000412920.3_Nonstop_Mutation_p.*485L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	0						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATAAGTTTAGGGCATATG	0.537000													48	101					0	0	0.003610	0	0
RYR3	6263	broad.mit.edu	37	15	34105703	34105703	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:34105703G>T	ENST00000389232.4	+	74	10495	c.10425G>T	c.(10423-10425)tgG>tgT	p.W3475C	RYR3_ENST00000415757.3_Missense_Mutation_p.W3470C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3475					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)		AGGCCGTCTGGCACAAACTGT	0.512000													32	61					2.09667e-21	3.73935e-21	0.003755	1	0
TIMD4	91937	broad.mit.edu	37	5	156378711	156378711	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:156378711G>A	ENST00000274532.2	-	3	547	c.491C>T	c.(490-492)cCa>cTa	p.P164L	TIMD4_ENST00000407087.3_Missense_Mutation_p.P164L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	164	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGTGCAGCTGGGGTTGTTGT	0.532000													73	143					0	0	0.003610	0	0
TRPS1	7227	broad.mit.edu	37	8	116426582	116426582	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:116426582C>A	ENST00000395715.3	-	7	4131	c.3554G>T	c.(3553-3555)aGa>aTa	p.R1185I	TRPS1_ENST00000220888.5_Missense_Mutation_p.R1172I|TRPS1_ENST00000520276.1_Missense_Mutation_p.R1176I|TRPS1_ENST00000519076.1_Missense_Mutation_p.R926I	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1172	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGCCCAGGTCTGGAATGCTT	0.438000									Langer-Giedion syndrome				13	80					4.3838e-07	6.47231e-07	0.001855	1	0
TDO2	6999	broad.mit.edu	37	4	156840990	156840990	+	Splice_Site	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:156840990G>T	ENST00000536354.2	+	12	1133	c.1067_splice	c.e12-1	p.D357_splice		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	357					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TTTTTCCAGTGATAGGTACAA	0.299000													8	20					5.4927e-09	8.30539e-09	0.004482	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616945	77616945	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:77616945G>T	ENST00000521891.2	+	2	1070	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D208Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D208Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D208Y|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	208						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)			ATTTACAGCCGATCAGGCTTT	0.463000										HNSCC(33;0.089)			39	27					3.61848e-18	6.38075e-18	0.007835	1	0
ERN2	10595	broad.mit.edu	37	16	23706081	23706081	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:23706081C>T	ENST00000256797.4	-	17	2380	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K	ERN2_ENST00000457008.2_Missense_Mutation_p.E638K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	690	Protein kinase.			A -> V (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGCAGAAGCTCGGGCGCCATC	0.642000													8	12					0	0	0.004482	0	0
EGLN3	112399	broad.mit.edu	37	14	34400412	34400412	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:34400412C>A	ENST00000250457.3	-	2	695	c.367G>T	c.(367-369)Gct>Tct	p.A123S	EGLN3_ENST00000553215.1_Missense_Mutation_p.A29S	NM_022073.3	NP_071356.1	Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	123	Fe2OG dioxygenase.				apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	GGATAGCAAGCCACCATTGCC	0.483000													15	51					1.49906e-05	2.10879e-05	0.002450	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685540	125685540	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:125685540G>T	ENST00000371126.1	-	1	1294	c.1052C>A	c.(1051-1053)aCa>aAa	p.T351K		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	351										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						CCGCACGCCTGTGCCACCCTC	0.617000													28	32					3.73148e-12	6.02037e-12	0.007291	1	0
CENPN	55839	broad.mit.edu	37	16	81061790	81061790	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:81061790C>T	ENST00000305850.5	+	10	1615	c.825C>T	c.(823-825)ttC>ttT	p.F275F	CENPN_ENST00000428963.2_Silent_p.F241F|CENPN_ENST00000439957.3_Silent_p.F255F|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA|CENPN_ENST00000393335.3_Silent_p.F275F	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	275					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|large_intestine(5)|lung(4)	10						AAACGAAATTCAAAAGTGGTT	0.343000													4	18					0	0	0.000248	0	0
F8	2157	broad.mit.edu	37	X	154225359	154225359	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:154225359G>T	ENST00000360256.4	-	3	477	c.277C>A	c.(277-279)Cct>Act	p.P93T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	93	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGGATGGTAGGACCTAGCAGA	0.448000													44	211					8.01111e-26	1.51968e-25	0.002522	1	0
HEPHL1	341208	broad.mit.edu	37	11	93808443	93808443	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:93808443G>T	ENST00000315765.9	+	9	1616	c.1608G>T	c.(1606-1608)ctG>ctT	p.L536L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	536	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTCCCTGTCTGACCTATCTTT	0.502000													12	18					3.07112e-06	4.42977e-06	0.000978	1	0
SSPO	23145	broad.mit.edu	37	7	149493573	149493573	+	RNA	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:149493573C>G	ENST00000378016.2	+	0	6649							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGATGTCCCCCTGCAGGTGGA	0.662000													27	42					0	0	0.005443	0	0
BRWD3	254065	broad.mit.edu	37	X	79962959	79962959	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:79962959G>C	ENST00000373275.4	-	22	2735	c.2519C>G	c.(2518-2520)cCt>cGt	p.P840R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	840										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAACAACAGGATCCTCTAC	0.343000													6	22					0	0	0.003080	0	0
ERGIC2	51290	broad.mit.edu	37	12	29498439	29498439	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:29498439C>A	ENST00000360150.4	-	11	837	c.762G>T	c.(760-762)gtG>gtT	p.V254V		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	254					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	GTTTTGTTGGCACAACTGTAA	0.313000													24	91					7.92952e-12	1.27606e-11	0.003954	1	0
XKR7	343702	broad.mit.edu	37	20	30584711	30584711	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:30584711G>A	ENST00000217299.3	+	3	1365	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	397						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAACGCCGCGCTCACCGGCT	0.592000													15	60					0	0	0.003163	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734859	173734859	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:173734859C>G	ENST00000506823.1	+	7	1565	c.908C>G	c.(907-909)cCc>cGc	p.P303R	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P286R	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	303						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P303H(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGGGCAGATCCCAGCGACCCT	0.552000													9	34					0	0	0.004482	0	0
CCP110	9738	broad.mit.edu	37	16	19548034	19548034	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:19548034T>C	ENST00000396212.2	+	5	1479	c.1043T>C	c.(1042-1044)gTt>gCt	p.V348A	CCP110_ENST00000396208.2_Missense_Mutation_p.V348A|CCP110_ENST00000381396.5_Missense_Mutation_p.V348A	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	348					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CCCACTTTTGTTACCGAAAAT	0.393000													8	36					0	0	0.003080	0	0
TANC2	26115	broad.mit.edu	37	17	61489411	61489411	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61489411G>A	ENST00000424789.2	+	21	3600	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E	TANC2_ENST00000389520.4_Missense_Mutation_p.G1199E|RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1199							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GACTACAGTGGAATGCGCCCT	0.522000													16	97					0	0	0.003163	0	0
TENM1	10178	broad.mit.edu	37	X	124028175	124028175	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:124028175C>G	ENST00000422452.2	-	3	568	c.505G>C	c.(505-507)Gac>Cac	p.D169H	TENM1_ENST00000371130.3_Missense_Mutation_p.D169H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCCTCCATGTCACAACAAACA	0.423000													13	47					0	0	0.003163	0	0
LRRTM3	347731	broad.mit.edu	37	10	68857414	68857414	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:68857414C>G	ENST00000361320.4	+	3	2184	c.1606C>G	c.(1606-1608)Cat>Gat	p.H536D	CTNNA3_ENST00000373744.4_Intron|LRRTM3_ENST00000485868.1_3'UTR|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	536						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTGTGGGGTGCATCATGAACT	0.438000													59	19					0	0	0.003610	0	0
ITGAD	3681	broad.mit.edu	37	16	31435842	31435842	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:31435842G>T	ENST00000389202.2	+	29	3365	c.3316G>T	c.(3316-3318)Ggc>Tgc	p.G1106C		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1106					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATCATCATGGGCAGCTCTGT	0.478000													20	29					3.5997e-14	5.99312e-14	0.002299	1	0
HCLS1	3059	broad.mit.edu	37	3	121350770	121350770	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:121350770C>G	ENST00000314583.3	-	14	1475	c.1384G>C	c.(1384-1386)Gac>Cac	p.D462H	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.D425H	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	462	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAGCCCTCGTCCACCATCTCA	0.507000													27	140					0	0	0.004656	0	0
NIN	51199	broad.mit.edu	37	14	51233537	51233537	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:51233537G>A	ENST00000245441.5	-	13	1696	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N	NIN_ENST00000389868.3_Silent_p.N502N|NIN_ENST00000382043.4_Silent_p.N502N|NIN_ENST00000382041.3_Silent_p.N502N|NIN_ENST00000530997.2_Silent_p.N502N|NIN_ENST00000324330.9_Silent_p.N502N|NIN_ENST00000453196.1_Silent_p.N502N	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	502					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTGAAGTTTGTTTGTCAGAT	0.363000			T	PDGFRB	MPD								21	65					0	0	0.001882	0	0
DNAH3	55567	broad.mit.edu	37	16	20996821	20996821	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:20996821G>T	ENST00000261383.3	-	48	7242	c.7243C>A	c.(7243-7245)Cac>Aac	p.H2415N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2415	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTAGAGATGTGCTCAATGGCA	0.562000													29	35					3.65163e-15	6.12847e-15	0.006320	1	0
IFI16	3428	broad.mit.edu	37	1	159002362	159002362	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:159002362C>G	ENST00000295809.7	+	7	1465	c.1210C>G	c.(1210-1212)Cta>Gta	p.L404V	IFI16_ENST00000430894.2_Missense_Mutation_p.L352V|IFI16_ENST00000340979.6_Missense_Mutation_p.L404V|IFI16_ENST00000359709.3_Missense_Mutation_p.L348V|IFI16_ENST00000448393.2_Missense_Mutation_p.L404V|IFI16_ENST00000368132.3_Missense_Mutation_p.L404V|IFI16_ENST00000368131.4_Missense_Mutation_p.L404V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	404					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GAGCATGAAGCTACCCCAGGA	0.443000													8	27					0	0	0.004482	0	0
CD40	958	broad.mit.edu	37	20	44751319	44751319	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:44751319G>A	ENST00000372285.3	+	4	399	c.327G>A	c.(325-327)tgG>tgA	p.W109*	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_Nonsense_Mutation_p.W109*	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	109					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	AAGAAGGCTGGCACTGTACGA	0.572000									Immune Deficiency with Hyper-IgM				15	31					0	0	0.004007	0	0
HELZ	9931	broad.mit.edu	37	17	65110479	65110479	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:65110479C>T	ENST00000358691.5	-	28	4045	c.3879G>A	c.(3877-3879)aaG>aaA	p.K1293K	HELZ_ENST00000580168.1_Silent_p.K1294K	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGTTCGAATCTTATTAATTT	0.353000													14	99					0	0	0.004007	0	0
BCL11B	64919	broad.mit.edu	37	14	99723967	99723967	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:99723967C>T	ENST00000345514.2	-	2	534	c.268G>A	c.(268-270)Gac>Aac	p.D90N	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.D90N	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	489						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		AGGGCCTTGTCATAGCAGGCA	0.592000			T	TLX3	T-ALL								16	27					0	0	0.003163	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633714	205633714	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:205633714A>T	ENST00000367145.3	-	2	366	c.71T>A	c.(70-72)cTa>cAa	p.L24Q		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	24					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCCAAAGGTTAGCAGGTTGAC	0.632000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								40	103					0	0	0.006230	0	0
ACE	1636	broad.mit.edu	37	17	61562274	61562274	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61562274C>T	ENST00000577647.1	+	1	91	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	ACE_ENST00000490216.2_Silent_p.L16L|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Silent_p.L16L|ACE_ENST00000290863.6_Silent_p.L16L|ACE_ENST00000290866.4_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	0					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCTCCTCTTCCTGCTGCTCTG	0.637000													4	17					0	0	0.000602	0	0
LOC440040	440040	broad.mit.edu	37	11	49805563	49805563	+	RNA	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:49805563A>T	ENST00000527477.1	+	0	1251																											CATGACGGTGAGAGGTCTGCT	0.517000													12	41					0	0	0.000978	0	0
KIF21B	23046	broad.mit.edu	37	1	200974783	200974783	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:200974783G>T	ENST00000332129.2	-	4	803	c.487C>A	c.(487-489)Cgt>Agt	p.R163S	KIF21B_ENST00000360529.5_Missense_Mutation_p.R163S|KIF21B_ENST00000461742.2_Missense_Mutation_p.R163S|KIF21B_ENST00000422435.2_Missense_Mutation_p.R163S	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	163	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCAGGGTCACGGGTGCTGTCA	0.577000													25	71					5.61819e-17	9.71543e-17	0.005443	1	0
ZBTB11	27107	broad.mit.edu	37	3	101390998	101390998	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:101390998C>G	ENST00000312938.4	-	2	950	c.370G>C	c.(370-372)Gat>Cat	p.D124H	ZBTB11_ENST00000461821.1_Missense_Mutation_p.D124H	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGATCGATCTAGTTTCTCC	0.348000													14	124					0	0	0.004990	0	0
DSG3	1830	broad.mit.edu	37	18	29055707	29055707	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr18:29055707G>T	ENST00000257189.4	+	16	2567	c.2484G>T	c.(2482-2484)gtG>gtT	p.V828V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	828					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)			GTTCTCCTGTGGGCTCCGTGG	0.473000													14	17					0.00185496	0.0024293	0.001855	1	0
ACE	1636	broad.mit.edu	37	17	61562273	61562273	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61562273C>T	ENST00000577647.1	+	1	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F	ACE_ENST00000490216.2_Silent_p.F15F|ACE_ENST00000428043.1_Intron|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000413513.3_Silent_p.F15F|ACE_ENST00000290863.6_Silent_p.F15F|ACE_ENST00000290866.4_Intron			P12821	ACE_HUMAN	angiotensin I converting enzyme	0					arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GCCTCCTCTTCCTGCTGCTCT	0.637000													4	17					0	0	0.000602	0	0
APBB1	322	broad.mit.edu	37	11	6422619	6422619	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:6422619C>A	ENST00000389906.2	-	10	1643	c.1544G>T	c.(1543-1545)gGa>gTa	p.G515V	APBB1_ENST00000533407.1_3'UTR|APBB1_ENST00000530885.1_Missense_Mutation_p.G293V|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.G513V|APBB1_ENST00000299402.6_Missense_Mutation_p.G513V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	515					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.G513V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGGGAGAGTCCATTTACCAA	0.552000													7	53					0.000274275	0.000370035	0.004482	1	0
ABCC4	10257	broad.mit.edu	37	13	95818455	95818455	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:95818455G>C	ENST00000376887.4	-	15	2105	c.1991C>G	c.(1990-1992)tCt>tGt	p.S664C	ABCC4_ENST00000536256.1_Missense_Mutation_p.S589C|ABCC4_ENST00000431522.1_Missense_Mutation_p.S664C|ABCC4_ENST00000412704.1_Missense_Mutation_p.S664C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	664					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGGTCTAGAAGATTGTTGAGA	0.448000													19	47					0	0	0.001882	0	0
NUTM1	256646	broad.mit.edu	37	15	34638205	34638205	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:34638205G>T	ENST00000537011.1	+	2	451	c.69G>T	c.(67-69)gtG>gtT	p.V23V	NUTM1_ENST00000438749.3_Intron|NUTM1_ENST00000333756.4_5'UTR					NUT midline carcinoma, family member 1																		CACAGTTAGTGCCCAAACCTG	0.542000													28	54					8.16721e-17	1.40458e-16	0.002096	1	0
OR4C46	119749	broad.mit.edu	37	11	51516107	51516107	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:51516107A>T	ENST00000328188.1	+	1	826	c.826A>T	c.(826-828)Ata>Tta	p.I276L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CTACACTATGATAACTCCTAT	0.378000													16	45					0	0	0.004990	0	0
EBF3	253738	broad.mit.edu	37	10	131639127	131639127	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:131639127G>T	ENST00000368648.3	-	14	1587	c.1515C>A	c.(1513-1515)tcC>tcA	p.S505S	EBF3_ENST00000355311.5_Silent_p.S514S	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	514	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAGAGTTAGCGGAGGAGCCAT	0.502000													36	49					3.93418e-24	7.22228e-24	0.004289	1	0
PIK3R6	146850	broad.mit.edu	37	17	8725198	8725198	+	Silent	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:8725198C>G	ENST00000311434.9	-	18	2081	c.1842G>C	c.(1840-1842)ctG>ctC	p.L614L	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	615					platelet activation	cytosol											CCTTCAGGATCAGCCCAGTGG	0.592000													3	7					0	0	0.000248	0	0
GJB7	375519	broad.mit.edu	37	6	87994459	87994459	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:87994459G>T	ENST00000525899.1	-	3	517	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	GJB7_ENST00000296882.3_Missense_Mutation_p.P58T	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	58					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		TTGCAACCGGGCTGTCTACTG	0.483000													45	33					8.86878e-18	1.5508e-17	0.003610	1	0
PCDHB15	56121	broad.mit.edu	37	5	140625697	140625697	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140625697C>T	ENST00000231173.3	+	1	551	c.551C>T	c.(550-552)aCc>aTc	p.T184I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		184	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCACTCGCACCCGAGGGGAT	0.512000													11	13					0	0	0.000978	0	0
SLC25A40	55972	broad.mit.edu	37	7	87479251	87479251	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:87479251T>C	ENST00000341119.5	-	6	623	c.277A>G	c.(277-279)Aaa>Gaa	p.K93E		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	93					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CGAATGATTTTAAAAAATGCA	0.254000													6	25					0	0	0.006214	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33886985	33886985	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:33886985C>T	ENST00000307296.3	+	12	1923	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.H521Y			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	516	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTACCAGTCTCATCGTGACAC	0.468000													15	20					0	0	0.003163	0	0
VPS72	6944	broad.mit.edu	37	1	151158033	151158033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:151158033G>A	ENST00000354473.4	-	3	370	c.334C>T	c.(334-336)Cga>Tga	p.R112*	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	112					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCTCTTCTCGCGCCTTCTGA	0.468000													295	130					0	0	0.003610	0	0
CCDC40	55036	broad.mit.edu	37	17	78013719	78013719	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:78013719G>A	ENST00000397545.4	+	3	229	c.202G>A	c.(202-204)Gag>Aag	p.E68K	CCDC40_ENST00000269318.5_Missense_Mutation_p.E68K|CCDC40_ENST00000374877.3_Missense_Mutation_p.E68K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E68K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	68					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAAgagggggaggtggagac	0.512000													16	47					0	0	0.006122	0	0
SAGE1	55511	broad.mit.edu	37	X	134993980	134993980	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:134993980G>T	ENST00000535938.1	+	18	2556	c.2389G>T	c.(2389-2391)Gac>Tac	p.D797Y	SAGE1_ENST00000324447.3_Missense_Mutation_p.D797Y|SAGE1_ENST00000370709.3_Missense_Mutation_p.D797Y|SAGE1_ENST00000537770.1_Missense_Mutation_p.D421Y	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	797										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCTGCAGGTGACCCACCAGT	0.403000													34	108					3.33393e-15	5.61033e-15	0.004878	1	0
NAV3	89795	broad.mit.edu	37	12	78571438	78571438	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:78571438G>T	ENST00000397909.2	+	28	5509	c.5336G>T	c.(5335-5337)gGc>gTc	p.G1779V	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Intron|NAV3_ENST00000536525.2_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1779						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACAAAATGGCCCTGTGATC	0.423000										HNSCC(70;0.22)			14	16					6.72482e-11	1.05243e-10	0.003163	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821398	5821398	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:5821398C>A	ENST00000381095.3	-	5	1948	c.1321G>T	c.(1321-1323)Gtg>Ttg	p.V441L	NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	441					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V441L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGAGAGCCACCAGGGTTTTC	0.597000													15	32					3.99206e-14	6.62872e-14	0.007413	1	0
STXBP4	252983	broad.mit.edu	37	17	53218706	53218706	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:53218706G>A	ENST00000376352.2	+	17	1732	c.1525G>A	c.(1525-1527)Gat>Aat	p.D509N	STXBP4_ENST00000434978.2_Missense_Mutation_p.D487N	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	509	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACACAGCAGATGGAATCAA	0.363000													37	47					0	0	0.003214	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140754886	140754886	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140754886G>T	ENST00000517434.1	+	1	1236	c.1236G>T	c.(1234-1236)cgG>cgT	p.R412R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGACCGGGAAGAGGTAT	0.443000													42	27					4.32679e-17	7.52381e-17	0.006999	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987580	15987580	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:15987580C>T	ENST00000345034.1	+	1	1217	c.1217C>T	c.(1216-1218)aCc>aTc	p.T406I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	406					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCATCTTACCCAGAATGAA	0.403000													15	22					0	0	0.002450	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			51	39					0	0	0.003610	0	0
ITGA4	3676	broad.mit.edu	37	2	182322407	182322407	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:182322407C>A	ENST00000397033.2	+	1	456	c.26C>A	c.(25-27)cCc>cAc	p.P9H	ITGA4_ENST00000339307.4_Missense_Mutation_p.P9H	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	9					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGGCGCGAACCCGGCCCCCGA	0.667000													7	7					1.12685e-05	1.59595e-05	0.004482	1	0
LOC653786	653786	broad.mit.edu	37	16	22563720	22563720	+	RNA	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:22563720C>T	ENST00000550753.1	+	0	1375					NR_003676.2																						TGAGATCCTTCTGCAAGCAGC	0.428000													13	90					0	0	0.003163	0	0
CCDC108	255101	broad.mit.edu	37	2	219892985	219892985	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:219892985C>T	ENST00000341552.5	-	12	1872	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	CCDC108_ENST00000409865.3_Missense_Mutation_p.A586T|CCDC108_ENST00000453220.1_Missense_Mutation_p.A597T|CCDC108_ENST00000441968.1_Missense_Mutation_p.A597T|CCDC108_ENST00000410037.1_Missense_Mutation_p.A532T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	597						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCAGCATGGCATCCAGGATG	0.607000													27	24					0	0	0.005443	0	0
ABCA10	10349	broad.mit.edu	37	17	67152975	67152975	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:67152975G>A	ENST00000269081.4	-	29	4362	c.3453C>T	c.(3451-3453)ttC>ttT	p.F1151F	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1151					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTCCCAACCTGAAAACTGGGT	0.239000													8	47					0	0	0.004482	0	0
LPAR6	10161	broad.mit.edu	37	13	48985870	48985870	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:48985870C>G	ENST00000378434.4	-	7	2314	c.690G>C	c.(688-690)atG>atC	p.M230I	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.M230I	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	230						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						GTACAAAAATCATTTTTAAAA	0.249000													8	22					0	0	0.003080	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606339	13606339	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:13606339C>T	ENST00000040738.5	-	10	2320	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	729	Lys-rich.						DNA binding										TTCTCTCTTTCAGGCTTCTCC	0.368000													19	70					0	0	0.006122	0	0
F8	2157	broad.mit.edu	37	X	154158690	154158690	+	Silent	SNP	T	T	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:154158690T>G	ENST00000360256.4	-	14	3575	c.3375A>C	c.(3373-3375)gcA>gcC	p.A1125A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1125	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTATCCACCTTGCTGATTCTG	0.443000													16	83					0	0	0.003163	0	0
TBC1D19	55296	broad.mit.edu	37	4	26721717	26721717	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:26721717G>C	ENST00000264866.4	+	15	1332	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	TBC1D19_ENST00000511789.1_Missense_Mutation_p.E287Q	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	352	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				ACTAGGACTGGAAGAATATGC	0.299000													9	55					0	0	0.001368	0	0
USP31	57478	broad.mit.edu	37	16	23093869	23093869	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:23093869C>A	ENST00000219689.7	-	12	1839	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	614					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CAGGCATCATCGGGGGCAAGC	0.502000													11	11					0.000151284	0.000207684	0.001855	1	0
TTLL1	25809	broad.mit.edu	37	22	43435841	43435841	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr22:43435841C>A	ENST00000331018.7	-	10	1366	c.1126G>T	c.(1126-1128)Ggg>Tgg	p.G376W	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Missense_Mutation_p.G405W			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	405					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GCTCTGGGCCCCAGAGACTGA	0.602000													31	64					9.65021e-13	1.56503e-12	0.002096	1	0
ADAM11	4185	broad.mit.edu	37	17	42851877	42851877	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:42851877G>A	ENST00000200557.6	+	13	1264	c.1095G>A	c.(1093-1095)gcG>gcA	p.A365A	ADAM11_ENST00000535346.1_Silent_p.A165A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	365	Peptidase M12B.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACATGGGGGCGATGGCCGTGA	0.637000													8	22					0	0	0.004482	0	0
ABCA10	10349	broad.mit.edu	37	17	67153032	67153032	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:67153032G>A	ENST00000269081.4	-	29	4305	c.3396C>T	c.(3394-3396)gtC>gtT	p.V1132V	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1132					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GACACCTTATGACAAAAAGGA	0.303000													8	43					0	0	0.004482	0	0
HFM1	164045	broad.mit.edu	37	1	91784675	91784675	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:91784675C>A	ENST00000370425.3	-	25	2870	c.2772G>T	c.(2770-2772)tgG>tgT	p.W924C	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.W603C|HFM1_ENST00000294696.5_Missense_Mutation_p.W156C	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	924	SEC63.						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)		GAGAGTTTTCCCAAAGTTTAC	0.348000													13	24					0.000219431	0.000300578	0.002450	1	0
BAI1	575	broad.mit.edu	37	8	143570748	143570748	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:143570748G>A	ENST00000517894.1	+	16	3474	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	BAI1_ENST00000323289.5_Silent_p.P860P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	860					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGAAACCCCCGCCTCGCTCCC	0.602000													16	133					0	0	0.006122	0	0
KALRN	8997	broad.mit.edu	37	3	124053288	124053288	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:124053288G>A	ENST00000360013.3	+	9	1714	c.1587G>A	c.(1585-1587)aaG>aaA	p.K529K	KALRN_ENST00000460856.1_Silent_p.K529K|KALRN_ENST00000240874.3_Silent_p.K529K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	529					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCACCGCAAGGTGCGGCTCC	0.602000													41	30					0	0	0.008740	0	0
SPTBN1	6711	broad.mit.edu	37	2	54880932	54880932	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:54880932G>A	ENST00000333896.5	+	26	6110	c.5725G>A	c.(5725-5727)Gac>Aac	p.D1909N	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1922N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1922	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATGGTGCGCGACCTCATGCT	0.592000													9	35					0	0	0.006214	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36104678	36104678	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:36104678T>C	ENST00000258840.6	-	32	4816	c.4426A>G	c.(4426-4428)Att>Gtt	p.I1476V	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.I1442V|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.I1429V|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.I1429V			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1429	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTTATAAATGCAATTGAGA	0.333000													3	15					0	0	0.000602	0	0
KLHL13	90293	broad.mit.edu	37	X	117033283	117033283	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:117033283G>T	ENST00000371876.1	-	6	3824	c.1403C>A	c.(1402-1404)gCg>gAg	p.A468E	KLHL13_ENST00000469946.1_Missense_Mutation_p.A468E|KLHL13_ENST00000262820.3_Missense_Mutation_p.A519E|KLHL13_ENST00000371878.1_Missense_Mutation_p.A468E|KLHL13_ENST00000545703.1_Missense_Mutation_p.A477E|KLHL13_ENST00000371882.1_Missense_Mutation_p.A468E|KLHL13_ENST00000541812.1_Missense_Mutation_p.A503E|KLHL13_ENST00000540167.1_Missense_Mutation_p.A503E|KLHL13_ENST00000539496.1_Missense_Mutation_p.A522E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	519					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.A519V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTCATTGGCGCCTTCTGGAT	0.423000													65	259					1.17253e-29	2.26544e-29	0.003610	1	0
RTP1	132112	broad.mit.edu	37	3	186917744	186917744	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:186917744G>T	ENST00000312295.4	+	2	708	c.678G>T	c.(676-678)tcG>tcT	p.S226S	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	226					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	p.S226S(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCACCAAGTCGCAGGACCAGA	0.627000													15	68					2.31682e-05	3.24459e-05	0.003163	1	0
STON2	85439	broad.mit.edu	37	14	81744458	81744458	+	Silent	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:81744458T>C	ENST00000555447.1	-	6	1609	c.1197A>G	c.(1195-1197)gcA>gcG	p.A399A	STON2_ENST00000267540.2_Silent_p.A399A	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	399					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAGAGTTGCACTGCCAA	0.488000													21	42					0	0	0.001523	0	0
PER2	8864	broad.mit.edu	37	2	239169510	239169510	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:239169510T>A	ENST00000254657.3	-	13	1780	c.1501A>T	c.(1501-1503)Agc>Tgc	p.S501C	PER2_ENST00000254658.3_3'UTR	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	501					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TTGCTGTCGCTGGAGGAGGTC	0.607000													118	130					0	0	0.003610	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25264296	25264296	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:25264296T>A	ENST00000328086.7	-	3	1452	c.649A>T	c.(649-651)Aca>Tca	p.T217S		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	217					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGTGTGGTTGTCACTTCCTGA	0.483000													35	129					0	0	0.008740	0	0
HSPA6	3310	broad.mit.edu	37	1	161494985	161494985	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:161494985G>C	ENST00000309758.4	+	1	950	c.537G>C	c.(535-537)acG>acC	p.T179T		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	179					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATGAGCCCACGGCAGCTGCCA	0.647000													10	96					0	0	0.000978	0	0
KRTAP6-3	337968	broad.mit.edu	37	21	31965029	31965029	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr21:31965029C>A	ENST00000391624.1	+	1	271	c.244C>A	c.(244-246)Cac>Aac	p.H82N		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ctATGTCTCCCACTCCTTCTG	0.572000													8	27					5.18039e-06	7.42088e-06	0.003080	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924776	105924776	+	Splice_Site	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:105924776C>G	ENST00000393359.2	-	2	410		c.e2-1		TGFBRAP1_ENST00000258449.1_5'UTR			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1						regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GGCTGATCTGCTGGAAGAGAA	0.458000													3	16					0	0	0.000248	0	0
TP53	7157	broad.mit.edu	37	17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577000		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)			36	18					0	0	0.005524	0	0
GRM6	2916	broad.mit.edu	37	5	178413548	178413548	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:178413548C>A	ENST00000231188.5	-	8	1885	c.1707G>T	c.(1705-1707)acG>acT	p.T569T	GRM6_ENST00000517717.1_Silent_p.T569T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	569					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GGCGGCAGCCCGTGTGGTTGG	0.701000													11	3					6.72482e-11	1.05243e-10	0.003163	1	0
SERPINE2	5270	broad.mit.edu	37	2	224862961	224862961	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:224862961A>T	ENST00000409840.3	-	4	1018	c.358T>A	c.(358-360)Tct>Act	p.S120T	SERPINE2_ENST00000447280.2_Missense_Mutation_p.S132T|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S120T|SERPINE2_ENST00000258405.4_Missense_Mutation_p.S120T			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	120					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATTTCAGAGGCATTCTTA	0.423000													24	26					0	0	0.003954	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128880267	128880267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:128880267G>A	ENST00000371106.3	+	5	546	c.354G>A	c.(352-354)tgG>tgA	p.W118*	XPNPEP2_ENST00000371105.3_Nonsense_Mutation_p.W118*	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	118					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						GTCGCTACTGGACTCAGGCTG	0.557000													18	23					0	0	0.002299	0	0
DDX60L	91351	broad.mit.edu	37	4	169279395	169279395	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:169279395C>G	ENST00000511577.1	-	38	5271	c.5024G>C	c.(5023-5025)cGt>cCt	p.R1675P	DDX60L_ENST00000260184.7_Missense_Mutation_p.R1675P			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1675							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269000													6	16					0	0	0.001168	0	0
RSPO1	284654	broad.mit.edu	37	1	38079472	38079472	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:38079472G>T	ENST00000356545.2	-	7	1316	c.529C>A	c.(529-531)Cgc>Agc	p.R177S	RSPO1_ENST00000373059.1_Missense_Mutation_p.R150S|RSPO1_ENST00000401068.1_Missense_Mutation_p.R177S|RSPO1_ENST00000401069.1_Missense_Mutation_p.R177S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	177	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCACCCTGCGTGTCCGCTCC	0.642000													16	28					4.7546e-09	7.20674e-09	0.004007	1	0
CXorf57	55086	broad.mit.edu	37	X	105891594	105891594	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:105891594G>C	ENST00000372548.4	+	11	2065	c.1956G>C	c.(1954-1956)ccG>ccC	p.P652P	CXorf57_ENST00000372544.2_Silent_p.P555P|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	652										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GAATTAAACCGGGCATGCCAA	0.308000													20	69					0	0	0.003330	0	0
NLRP2	55655	broad.mit.edu	37	19	55494005	55494005	+	Silent	SNP	G	G	C	rs61735080	byFrequency	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:55494005G>C	ENST00000543010.1	+	6	1082	c.939G>C	c.(937-939)ccG>ccC	p.P313P	NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P|NLRP2_ENST00000391721.4_Silent_p.P289P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632000													23	20					0	0	0.002780	0	0
ZNF449	203523	broad.mit.edu	37	X	134494568	134494568	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:134494568G>T	ENST00000339249.4	+	5	1264	c.1124G>T	c.(1123-1125)gGg>gTg	p.G375V		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	375					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCATACAGGGGAGAGACCC	0.428000													34	100					2.47316e-13	4.05287e-13	0.003271	1	0
DDX26B	203522	broad.mit.edu	37	X	134681154	134681154	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:134681154G>A	ENST00000370752.4	+	6	1040	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	236										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATTAATTTTGAAAAAACAGG	0.333000													38	150					0	0	0.006999	0	0
DENND2A	27147	broad.mit.edu	37	7	140302141	140302141	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:140302141C>A	ENST00000275884.6	-	2	474	c.57G>T	c.(55-57)agG>agT	p.R19S	DENND2A_ENST00000537639.1_Missense_Mutation_p.R19S|DENND2A_ENST00000496613.1_Missense_Mutation_p.R19S|DENND2A_ENST00000492720.1_Missense_Mutation_p.R19S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	19										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCTTCCCAGCCCTGCTGGCTT	0.532000													41	31					1.62957e-23	2.98278e-23	0.008740	1	0
CPQ	10404	broad.mit.edu	37	8	97847376	97847376	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:97847376C>A	ENST00000220763.5	+	3	819	c.609C>A	c.(607-609)ctC>ctA	p.L203L		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	203					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGGCATCTCTCATTCGATCCG	0.468000													10	94					0.000673444	0.000895066	0.008291	1	0
BBS9	27241	broad.mit.edu	37	7	33217091	33217091	+	Splice_Site	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:33217091A>C	ENST00000242067.6	+	5	851	c.328_splice	c.e5-1	p.G110_splice	BBS9_ENST00000396127.2_Splice_Site_p.G110_splice|BBS9_ENST00000425508.2_Splice_Site_p.G65_splice|BBS9_ENST00000354265.4_Splice_Site_p.G110_splice|BBS9_ENST00000350941.3_Splice_Site_p.G110_splice|BBS9_ENST00000355070.2_Splice_Site_p.G110_splice	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	110					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTCCTTAGGAACCTTGGGTA	0.333000									Bardet-Biedl syndrome				6	20					0	0	0.001984	0	0
CSMD3	114788	broad.mit.edu	37	8	113304891	113304891	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:113304891C>T	ENST00000297405.5	-	55	8907	c.8663G>A	c.(8662-8664)gGa>gAa	p.G2888E	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2818E|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2848E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2719E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2888	Sushi 19.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACCCATTTCCACTTGTTCT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	72					0	0	0.001523	0	0
HCFC1	3054	broad.mit.edu	37	X	153222782	153222782	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:153222782G>T	ENST00000310441.7	-	13	3302	c.2336C>A	c.(2335-2337)aCc>aAc	p.T779N	HCFC1_ENST00000369984.4_Missense_Mutation_p.T779N|HCFC1_ENST00000354233.3_Missense_Mutation_p.T710N	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	779	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCCGCCTGGGTGATGATGGC	0.612000													37	229					7.88023e-25	1.45947e-24	0.003610	1	0
TFAP4	7023	broad.mit.edu	37	16	4308067	4308067	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:4308067C>G	ENST00000204517.6	-	7	1334	c.1006G>C	c.(1006-1008)Gag>Cag	p.E336Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	336					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGGGAAGCTCCCCGTCCCCC	0.682000													5	15					0	0	0.000602	0	0
CELA3A	10136	broad.mit.edu	37	1	22336215	22336215	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:22336215C>A	ENST00000290122.3	+	7	679	c.660C>A	c.(658-660)ccC>ccA	p.P220P		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGGAGGACCCCTCAACTGCC	0.547000													11	2					5.50884e-06	7.85543e-06	0.001368	1	0
HOXA9	3205	broad.mit.edu	37	7	27204522	27204522	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:27204522G>T	ENST00000343483.6	-	1	627	c.555C>A	c.(553-555)ggC>ggA	p.G185G	RP1-170O19.20_ENST00000470747.4_Silent_p.G25G|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	185							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GCTTGTCTCCGCCGCTCTCAT	0.577000			T	"""NUP98, MSI2"""	AML*								11	41					9.31168e-06	1.32179e-05	0.001855	1	0
FAM214A	56204	broad.mit.edu	37	15	52901391	52901391	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:52901391C>G	ENST00000261844.7	-	6	1872	c.1720G>C	c.(1720-1722)Gaa>Caa	p.E574Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.E581Q	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	574																	GAACACTTTTCTTTACTATTA	0.318000													10	21					0	0	0.008291	0	0
PKD1L2	114780	broad.mit.edu	37	16	81134842	81134842	+	RNA	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:81134842G>C	ENST00000525539.1	-	0	7264				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGAAACTGAGTATTTTCA	0.527000													7	28					0	0	0.003080	0	0
SMPD4	55627	broad.mit.edu	37	2	130911005	130911005	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:130911005T>A	ENST00000409031.1	-	18	3177	c.2029A>T	c.(2029-2031)Agg>Tgg	p.R677W	SMPD4_ENST00000453750.1_Missense_Mutation_p.R426W|SMPD4_ENST00000426662.2_Missense_Mutation_p.R313W|SMPD4_ENST00000351288.6_Missense_Mutation_p.R648W|SMPD4_ENST00000452225.2_Missense_Mutation_p.R418W|SMPD4_ENST00000431183.2_Missense_Mutation_p.R575W|SMPD4_ENST00000339679.7_Missense_Mutation_p.R535W|SMPD4_ENST00000443958.2_Missense_Mutation_p.R341W	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	638					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GTGAACTGCCTGAGCTGCGCT	0.577000													37	26					0	0	0.005524	0	0
OR4C15	81309	broad.mit.edu	37	11	55322128	55322128	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:55322128T>A	ENST00000314644.2	+	1	346	c.346T>A	c.(346-348)Ttg>Atg	p.L116M		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L116V(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GTACTTCTTCTTGGGCTTCCT	0.448000										HNSCC(20;0.049)			29	132					0	0	0.006320	0	0
C1orf141	400757	broad.mit.edu	37	1	67561944	67561944	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:67561944C>G	ENST00000371007.2	-	6	516	c.407G>C	c.(406-408)aGa>aCa	p.R136T	C1orf141_ENST00000544837.1_Missense_Mutation_p.R136T|C1orf141_ENST00000371006.1_Missense_Mutation_p.R136T	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	136										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCTTTTATTTCTATCACCTTC	0.254000													4	13					0	0	0.000602	0	0
MTBP	27085	broad.mit.edu	37	8	121534921	121534921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:121534921G>T	ENST00000305949.1	+	21	2683	c.2638G>T	c.(2638-2640)Gaa>Taa	p.E880*		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	880	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GGGTCTATTTGAAGAAATGAA	0.269000													11	36					0.00136819	0.00180314	0.001368	1	0
TOPBP1	11073	broad.mit.edu	37	3	133363085	133363085	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:133363085C>T	ENST00000260810.5	-	11	1758	c.1627G>A	c.(1627-1629)Gat>Aat	p.D543N	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	543					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTAGAAACATCAGGGACACAA	0.363000								Other conserved DNA damage response genes					7	37					0	0	0.001984	0	0
FAM47B	170062	broad.mit.edu	37	X	34961433	34961433	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:34961433C>A	ENST00000329357.5	+	1	521	c.485C>A	c.(484-486)gCt>gAt	p.A162D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGAGGACGCTTGGGCTCGT	0.587000													31	26					5.09552e-08	7.63109e-08	0.002096	1	0
OLFML2A	169611	broad.mit.edu	37	9	127561676	127561676	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:127561676A>T	ENST00000373580.3	+	4	575	c.575A>T	c.(574-576)aAg>aTg	p.K192M		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	192										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTGGGCATCAAGAAGGAGCTG	0.637000													12	8					0	0	0.001368	0	0
FSTL5	56884	broad.mit.edu	37	4	162841711	162841711	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:162841711G>T	ENST00000306100.5	-	4	690	c.254C>A	c.(253-255)gCa>gAa	p.A85E	FSTL5_ENST00000536695.1_Missense_Mutation_p.A84E|FSTL5_ENST00000427802.2_Missense_Mutation_p.A84E|FSTL5_ENST00000379164.4_Missense_Mutation_p.A84E	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	85	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGCACATTCTGCTTGCCCTGT	0.453000													21	15					6.21321e-17	1.07148e-16	0.002780	1	0
DNAJC13	23317	broad.mit.edu	37	3	132172488	132172488	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:132172488G>C	ENST00000260818.6	+	8	1038	c.790G>C	c.(790-792)Gaa>Caa	p.E264Q	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	264							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATGTTTAGTAGAACGTGATCC	0.299000													33	168					0	0	0.004878	0	0
PIANP	196500	broad.mit.edu	37	12	6806462	6806462	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:6806462G>T	ENST00000534837.1	-	3	743	c.514C>A	c.(514-516)Cgt>Agt	p.R172S	PIANP_ENST00000320591.5_Missense_Mutation_p.R172S|PIANP_ENST00000540656.1_Missense_Mutation_p.R172S	NM_001244014.1	NP_001230943.1			PILR alpha associated neural protein																		CCTTCCCCACGGCCCCCGAAC	0.607000													20	23					5.35267e-07	7.81065e-07	0.007413	1	0
BAI3	577	broad.mit.edu	37	6	69684670	69684670	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:69684670G>T	ENST00000370598.1	+	9	2362	c.1541G>T	c.(1540-1542)tGc>tTc	p.C514F		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	514					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATGAAATATGCCCTGAGGAT	0.408000													25	17					1.13719e-10	1.77527e-10	0.008361	1	0
MFSD2A	84879	broad.mit.edu	37	1	40434040	40434040	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:40434040C>T	ENST00000372809.5	+	12	1425	c.1282C>T	c.(1282-1284)Ctg>Ttg	p.L428L	MFSD2A_ENST00000372811.5_Silent_p.L415L|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.L259L	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	428					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGACTTCCATCTGAAGCAGCC	0.522000													18	29					0	0	0.002299	0	0
MEFV	4210	broad.mit.edu	37	16	3306354	3306354	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:3306354G>T	ENST00000219596.1	-	1	273	c.234C>A	c.(232-234)aaC>aaA	p.N78K	MEFV_ENST00000541159.1_Missense_Mutation_p.N78K|MEFV_ENST00000536379.1_Missense_Mutation_p.N78K|MEFV_ENST00000339854.4_Missense_Mutation_p.N78K	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	78	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCAGGCGCTGGTTGATGGCCC	0.642000													23	21					2.89027e-11	4.56896e-11	0.002299	1	0
LCT	3938	broad.mit.edu	37	2	136575099	136575099	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:136575099G>T	ENST00000264162.2	-	6	1529	c.1519C>A	c.(1519-1521)Cat>Aat	p.H507N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	507	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CATCCACCATGATCCTGCAGG	0.582000													11	65					1.58986e-06	2.30918e-06	0.008291	1	0
NPIPA1	9284	broad.mit.edu	37	16	15045679	15045679	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:15045679G>C	ENST00000328085.6	+	8	850	c.850G>C	c.(850-852)Gat>Cat	p.D284H	NPIPA1_ENST00000472413.1_3'UTR	NM_006985.2	NP_008916.2			nuclear pore complex interacting protein family, member A1																		CTCAGCGGATGATAATCTCAA	0.522000													23	130					0	0	0.006320	0	0
UBE2A	7319	broad.mit.edu	37	X	118708873	118708873	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:118708873G>T	ENST00000371558.2	+	2	228	c.54G>T	c.(52-54)gaG>gaT	p.E18D	UBE2A_ENST00000346330.3_Missense_Mutation_p.E18D|UBE2A_ENST00000469205.1_3'UTR	NM_003336.2|NM_181762.1	NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	18					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGTTGCAGGAGGATCCTCCAG	0.692000								Rad6 pathway					13	77					0.00316338	0.00409995	0.003163	1	0
ATP5C1	509	broad.mit.edu	37	10	7841071	7841071	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:7841071G>C	ENST00000356708.7	+	4	421	c.342G>C	c.(340-342)atG>atC	p.M114I	ATP5C1_ENST00000335698.4_Missense_Mutation_p.M114I|ATP5C1_ENST00000541227.1_Missense_Mutation_p.M67I|ATP5C1_ENST00000493053.1_3'UTR	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	114					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CTAAACAGATGAAAAGCGAGG	0.408000													28	56					0	0	0.007291	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790779	194790779	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:194790779C>T	ENST00000310380.6	-	4	955	c.847G>A	c.(847-849)Gag>Aag	p.E283K	XXYLT1_ENST00000355729.4_Missense_Mutation_p.E80K|XXYLT1_ENST00000429994.1_Missense_Mutation_p.E137K|XXYLT1_ENST00000437101.1_Missense_Mutation_p.E80K|XXYLT1_ENST00000460582.1_5'UTR|XXYLT1_ENST00000356740.5_Missense_Mutation_p.E77K	NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	283						integral to membrane	transferase activity, transferring glycosyl groups										GGCAGCCCCTCGGGGGGCGGG	0.677000													18	77					0	0	0.001523	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342605	16342605	+	RNA	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:16342605C>T	ENST00000475953.1	+	0	247				C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA	NR_027667.1																						ATCCGGCTGCCGTGGCTGAGG	0.716000													28	40					0	0	0.008361	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915861	186915861	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:186915861A>T	ENST00000367466.3	+	11	1278	c.1126A>T	c.(1126-1128)Aca>Tca	p.T376S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T316S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	376	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTTTATGGGAACAGTCGTTAA	0.338000													11	26					0	0	0.000978	0	0
KMT2D	8085	broad.mit.edu	37	12	49445926	49445926	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:49445926G>A	ENST00000301067.7	-	10	1539	c.1540C>T	c.(1540-1542)Cca>Tca	p.P514S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTCCAGTGGAGAAAAAGGT	0.622000													15	55					0	0	0.002450	0	0
UBA6	55236	broad.mit.edu	37	4	68497610	68497610	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:68497610T>C	ENST00000322244.4	-	24	2218	c.2159A>G	c.(2158-2160)cAc>cGc	p.H720R		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	720					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						AGGGAAACAGTGAAGAAGCTG	0.274000													4	12					0	0	0.000602	0	0
SNTG1	54212	broad.mit.edu	37	8	51363127	51363127	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:51363127G>C	ENST00000522124.1	+	7	950	c.289G>C	c.(289-291)Gga>Cga	p.G97R	SNTG1_ENST00000517473.1_Missense_Mutation_p.G97R|SNTG1_ENST00000276467.5_Missense_Mutation_p.G97R|SNTG1_ENST00000518864.1_Missense_Mutation_p.G97R	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	97	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGAACTTTCAGGACTACTTTT	0.303000													39	23					0	0	0.002222	0	0
DNM1	1759	broad.mit.edu	37	9	131012511	131012511	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:131012511T>C	ENST00000341179.7	+	20	2286	c.2194T>C	c.(2194-2196)Tac>Cac	p.Y732H	DNM1_ENST00000486160.1_Missense_Mutation_p.Y732H|DNM1_ENST00000475805.1_Missense_Mutation_p.Y732H|DNM1_ENST00000372923.3_Missense_Mutation_p.Y732H|DNM1_ENST00000393594.3_Missense_Mutation_p.Y732H	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	732	GED.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCTGCGCATGTACCACGCACT	0.657000													7	18					0	0	0.003080	0	0
MAP2K3	5606	broad.mit.edu	37	17	21201777	21201777	+	Silent	SNP	C	C	A	rs145057136		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:21201777C>A	ENST00000342679.4	+	2	351	c.102C>A	c.(100-102)ccC>ccA	p.P34P	MAP2K3_ENST00000316920.6_Silent_p.P5P|MAP2K3_ENST00000361818.5_Silent_p.P5P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	34					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGCCACCCGCACCCAACC	0.562000													51	116					7.77372e-23	1.39838e-22	0.003610	1	0
STXBP4	252983	broad.mit.edu	37	17	53218670	53218670	+	Splice_Site	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:53218670G>C	ENST00000376352.2	+	17	1696		c.e17-1		STXBP4_ENST00000434978.2_Splice_Site	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4							cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTTCACTGTAGGTTTACCTTA	0.348000													30	38					0	0	0.003271	0	0
SLC5A10	125206	broad.mit.edu	37	17	18918509	18918509	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:18918509G>C	ENST00000317977.6	+	10	1608	c.1037G>C	c.(1036-1038)gGa>gCa	p.G346A	SLC5A10_ENST00000395642.1_Missense_Mutation_p.G346A|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G386A|SLC5A10_ENST00000395645.3_Missense_Mutation_p.G413A|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G429A|SLC5A10_ENST00000417251.2_Missense_Mutation_p.G377A			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	413					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CTGCTGGTGGGACGGTACGGG	0.647000													5	3					0	0	0.001168	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455273	84455273	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:84455273G>T	ENST00000377084.2	-	1	1255	c.370C>A	c.(370-372)Cag>Aag	p.Q124K		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	124						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGAAAAGTCTGCTTTCGAAAA	0.473000													22	67					3.83957e-06	5.52545e-06	0.002780	1	0
PXDN	7837	broad.mit.edu	37	2	1651960	1651960	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:1651960G>A	ENST00000252804.4	-	17	3642	c.3592C>T	c.(3592-3594)Cgg>Tgg	p.R1198W		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1198			R -> Q (in dbSNP:rs6723697).		extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGTTTCTCCCGGATCTCAGGG	0.517000													34	103					0	0	0.004878	0	0
ABCA10	10349	broad.mit.edu	37	17	67153055	67153055	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:67153055G>C	ENST00000269081.4	-	29	4282	c.3373C>G	c.(3373-3375)Cag>Gag	p.Q1125E	ABCA10_ENST00000519732.1_5'UTR|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1125					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ATAACACTCTGAAGGTATGGC	0.313000													5	43					0	0	0.001168	0	0
MAGED2	10916	broad.mit.edu	37	X	54841756	54841756	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:54841756G>A	ENST00000375068.1	+	12	1695	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	MAGED2_ENST00000218439.4_Missense_Mutation_p.E488K|MAGED2_ENST00000347546.3_Missense_Mutation_p.E432K|MAGED2_ENST00000375053.2_Missense_Mutation_p.E488K|MAGED2_ENST00000396224.1_Missense_Mutation_p.E488K|MAGED2_ENST00000375060.1_Missense_Mutation_p.E403K|MAGED2_ENST00000375062.4_Missense_Mutation_p.E403K|MAGED2_ENST00000343474.6_Missense_Mutation_p.E470K|MAGED2_ENST00000375058.1_Missense_Mutation_p.E488K			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	488								p.E488*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ggctgcagctgaggctgcagc	0.557000													9	37					0	0	0.006214	0	0
VCAM1	7412	broad.mit.edu	37	1	101190444	101190444	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:101190444A>T	ENST00000294728.2	+	4	1027	c.926A>T	c.(925-927)cAa>cTa	p.Q309L	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q247L|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q309L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q309L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	309	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTAATTGTTCAAGGTGAGTAG	0.373000													11	10					0	0	0.000978	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92977600	92977600	+	Missense_Mutation	SNP	G	G	T	rs138598921		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:92977600G>T	ENST00000268164.3	+	3	522	c.285G>T	c.(283-285)agG>agT	p.R95S	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R74S	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	95					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TCTCTCTGAGGATCAGGTACT	0.463000													49	12					6.81593e-30	1.32098e-29	0.003610	1	0
DUS4L	11062	broad.mit.edu	37	7	107207602	107207602	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:107207602A>C	ENST00000265720.3	+	3	449	c.87A>C	c.(85-87)aaA>aaC	p.K29N	DUS4L_ENST00000402620.1_5'UTR|DUS4L_ENST00000498786.1_3'UTR	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	29					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AGCTGGTAAAAGTCTGTGCCC	0.338000													3	15					0	0	0.000248	0	0
CIRBP	1153	broad.mit.edu	37	19	1272346	1272346	+	Silent	SNP	G	G	A	rs141322579	by1000genomes	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:1272346G>A	ENST00000444172.2	+	5	773	c.639G>A	c.(637-639)ccG>ccA	p.P213P	CIRBP_ENST00000588230.1_Silent_p.P266P|CIRBP_ENST00000587896.1_Silent_p.P266P|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000589686.1_Intron|CIRBP_ENST00000587323.1_Silent_p.P266P|CIRBP_ENST00000589710.1_Silent_p.P266P|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000413636.2_Silent_p.P232P|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP_ENST00000588030.1_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586472.1_Intron			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	110					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGCAGGCCGCGCCCTGGTC	0.647000													33	42					0	0	0.002836	0	0
CHRAC1	54108	broad.mit.edu	37	8	141525309	141525309	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:141525309A>G	ENST00000220913.5	+	3	561	c.359A>G	c.(358-360)aAt>aGt	p.N120S	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	120					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGAATGACAATGATAATGAA	0.388000													78	41					0	0	0.003610	0	0
NEDD9	4739	broad.mit.edu	37	6	11191136	11191136	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:11191136G>C	ENST00000379446.5	-	5	1132	c.966C>G	c.(964-966)ggC>ggG	p.G322G	NEDD9_ENST00000504387.1_Silent_p.G322G|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	322					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GAAACTGAACGCCTCGGGGGA	0.572000													5	82					0	0	0.000602	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092293	143092293	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:143092293T>C	ENST00000367603.2	-	5	4325	c.3583A>G	c.(3583-3585)Aca>Gca	p.T1195A	HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1195A|HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1195A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AATGGAATTGTCTCTTGATGT	0.443000													28	86					0	0	0.006320	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736283	56736283	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:56736283C>T	ENST00000587340.1	-	4	828	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V45M|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V45M			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	45	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTGAAGTTCACGTGAGAAATC	0.557000													19	42					0	0	0.006122	0	0
NXPE1	120400	broad.mit.edu	37	11	114401616	114401616	+	Silent	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:114401616T>C	ENST00000536312.1	-	6	1006	c.114A>G	c.(112-114)ctA>ctG	p.L38L	NXPE1_ENST00000424269.1_Silent_p.L38L|NXPE1_ENST00000251921.2_5'UTR					neurexophilin and PC-esterase domain family, member 1																		TGGATAAGTTTAGAGCAGACC	0.343000													16	35					0	0	0.004007	0	0
ZNF619	285267	broad.mit.edu	37	3	40528670	40528670	+	Silent	SNP	G	G	A	rs138484130		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:40528670G>A	ENST00000447116.2	+	6	1096	c.789G>A	c.(787-789)caG>caA	p.Q263Q	ZNF619_ENST00000522736.1_Silent_p.Q214Q|ZNF619_ENST00000429348.2_Silent_p.Q223Q|ZNF619_ENST00000456778.1_Silent_p.Q179Q|ZNF619_ENST00000521353.1_Silent_p.Q263Q|ZNF619_ENST00000432264.2_Silent_p.Q223Q|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.Q207Q	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	263					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCTGCATCAGAGAGTTCACA	0.418000													14	19					0	0	0.001855	0	0
BICD2	23299	broad.mit.edu	37	9	95480092	95480092	+	Missense_Mutation	SNP	T	T	C	rs145923602		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:95480092T>C	ENST00000356884.6	-	6	2312	c.2245A>G	c.(2245-2247)Atg>Gtg	p.M749V	BICD2_ENST00000375512.3_Missense_Mutation_p.M749V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	749	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGCAAACATAGCACGCAGC	0.587000													10	16					0	0	0.006214	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036335	153036335	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:153036335C>A	ENST00000538966.1	+	12	2473	c.2202C>A	c.(2200-2202)ttC>ttA	p.F734L	PLXNB3_ENST00000361971.5_Missense_Mutation_p.F711L|PLXNB3_ENST00000538282.1_Missense_Mutation_p.F321L|PLXNB3_ENST00000538776.1_Missense_Mutation_p.F364L|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	711					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACATTTCCGAGTGAGCC	0.647000													57	86					1.72039e-30	3.34461e-30	0.003610	1	0
BEND7	222389	broad.mit.edu	37	10	13481453	13481453	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:13481453C>A	ENST00000341083.3	-	9	1422	c.1126G>T	c.(1126-1128)Gcg>Tcg	p.A376S	BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Missense_Mutation_p.A427S	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	427	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						AGGGTCACCGCTGCACTCCCA	0.527000													24	18					1.42536e-11	2.28788e-11	0.004656	1	0
GRIP1	23426	broad.mit.edu	37	12	66911695	66911695	+	Silent	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:66911695T>A	ENST00000359742.4	-	6	804	c.564A>T	c.(562-564)ggA>ggT	p.G188G	GRIP1_ENST00000398016.3_Silent_p.G188G|GRIP1_ENST00000286445.7_Silent_p.G188G			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	188	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAGCAGGCCCTCCAGGACGAA	0.368000													16	40					0	0	0.004990	0	0
NLRP14	338323	broad.mit.edu	37	11	7063773	7063773	+	Silent	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:7063773C>G	ENST00000299481.4	+	4	862	c.516C>G	c.(514-516)acC>acG	p.T172T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	172					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.T172T(2)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGTCAAAACCGGTGCACAGC	0.473000													27	40					0	0	0.007291	0	0
GPR32	2854	broad.mit.edu	37	19	51274107	51274107	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:51274107C>G	ENST00000270590.4	+	1	387	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	84						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCTTCCACCTGGCCCTTGC	0.572000													11	28					0	0	0.008291	0	0
FER1L6	654463	broad.mit.edu	37	8	125058122	125058122	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:125058122C>A	ENST00000522917.1	+	21	2910	c.2704C>A	c.(2704-2706)Ctg>Atg	p.L902M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L902M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	902	C2 3.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGTGGTGGAGCTGTATGACAG	0.522000													55	179					1.78197e-24	3.28091e-24	0.003610	1	0
NEIL3	55247	broad.mit.edu	37	4	178231233	178231233	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:178231233C>A	ENST00000264596.3	+	1	244	c.126C>A	c.(124-126)ctC>ctA	p.L42L		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	42					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCTTGCGGCTCGCAGCCTCCA	0.657000								Base excision repair (BER), DNA glycosylases					9	7					1.76689e-08	2.65884e-08	0.006214	1	0
SHQ1	55164	broad.mit.edu	37	3	72881586	72881586	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:72881586G>C	ENST00000325599.8	-	5	672	c.533C>G	c.(532-534)cCt>cGt	p.P178R	SHQ1_ENST00000463369.1_Missense_Mutation_p.P150R	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	178					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TTCAGCTGCAGGGGTGAAATC	0.393000													25	63					0	0	0.005443	0	0
C6orf118	168090	broad.mit.edu	37	6	165713955	165713955	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:165713955C>T	ENST00000543069.1	-	3	1043	c.462G>A	c.(460-462)acG>acA	p.T154T	C6orf118_ENST00000230301.8_Silent_p.T258T			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	258										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GGGGGCTGCACGTGCAAATTT	0.433000													37	94					0	0	0.008740	0	0
NF1	4763	broad.mit.edu	37	17	29654858	29654858	+	Splice_Site	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:29654858G>T	ENST00000358273.4	+	38	5992		c.e38+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGAGTTTACGGTAGGTTTTTT	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			29	18					2.65835e-16	4.54679e-16	0.007291	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150131394	150131394	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:150131394G>A	ENST00000369124.4	+	6	1184	c.906G>A	c.(904-906)ccG>ccA	p.P302P	PLEKHO1_ENST00000369126.1_Silent_p.P119P|PLEKHO1_ENST00000025469.6_Silent_p.P268P	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	302	Interaction with ATM, CKIP, IFP35 and NMI.					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)			TCCCCAACCCGGGGCAGCTGT	0.652000													22	68					0	0	0.001523	0	0
PDE3A	5139	broad.mit.edu	37	12	20766419	20766419	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:20766419G>A	ENST00000359062.3	+	3	1094	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	352					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E352K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGTCATGGGCGAGGCCCACGG	0.532000													21	75					0	0	0.001523	0	0
AHNAK	79026	broad.mit.edu	37	11	62285472	62285472	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:62285472C>T	ENST00000378024.4	-	5	16691	c.16417G>A	c.(16417-16419)Ggc>Agc	p.G5473S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5473	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACAGTGGGGCCTTTGATCTCA	0.517000													25	60					0	0	0.003954	0	0
CHN1	1123	broad.mit.edu	37	2	175779863	175779863	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:175779863C>A	ENST00000409900.3	-	5	496	c.183G>T	c.(181-183)caG>caT	p.Q61H	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.Q61H	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	61	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CAATCAAGAGCTGGTCGGCTG	0.468000			T	TAF15	extraskeletal myxoid chondrosarcoma								5	13					0.00116845	0.00154314	0.001168	1	0
OAS2	4939	broad.mit.edu	37	12	113445702	113445702	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:113445702G>C	ENST00000392583.2	+	9	2056	c.1849G>C	c.(1849-1851)Gat>Cat	p.D617H	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.D617H	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	617	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAACTTTGAAGATGAGACCGT	0.488000													51	122					0	0	0.003610	0	0
TWF1	5756	broad.mit.edu	37	12	44196223	44196223	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:44196223C>A	ENST00000395510.2	-	3	277	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	TWF1_ENST00000548315.1_Missense_Mutation_p.D50Y|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.D84Y	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	50	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TAATCCTTATCCCAGGAATCT	0.358000													73	103					7.81431e-29	1.50054e-28	0.003610	1	0
MMP20	9313	broad.mit.edu	37	11	102480641	102480641	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:102480641G>T	ENST00000260228.2	-	4	656	c.644C>A	c.(643-645)aCg>aAg	p.T215K	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	215					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TATACCATTCGTTCCCATAGT	0.488000													15	51					0.000566183	0.000758952	0.004990	1	0
ZP3	7784	broad.mit.edu	37	7	76062954	76062954	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:76062954G>T	ENST00000416245.1	+	3	1268	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	ZP3_ENST00000336517.4_Missense_Mutation_p.D184Y|ZP3_ENST00000394857.3_Missense_Mutation_p.D235Y			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	235	ZP.				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CACCATCGTGGACTTCCATGG	0.547000													33	59					4.31634e-10	6.68818e-10	0.002445	1	0
KLHL18	23276	broad.mit.edu	37	3	47385112	47385112	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:47385112G>T	ENST00000232766.5	+	10	1426	c.1406G>T	c.(1405-1407)cGg>cTg	p.R469L	KLHL18_ENST00000455924.2_Missense_Mutation_p.R357L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	469										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		AAGCGCTGCCGGCACGGAGCC	0.617000													23	38					3.7963e-18	6.65683e-18	0.003330	1	0
CSMD3	114788	broad.mit.edu	37	8	113249539	113249539	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:113249539C>A	ENST00000297405.5	-	67	10751	c.10507G>T	c.(10507-10509)Ggc>Tgc	p.G3503C	CSMD3_ENST00000352409.3_Missense_Mutation_p.G3433C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3463C|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3334C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3503						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTAAGAGCCTTTCCATATA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	98					0.00307968	0.00399975	0.003080	1	0
PIPOX	51268	broad.mit.edu	37	17	27371935	27371935	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:27371935C>T	ENST00000323372.4	+	2	499	c.173C>T	c.(172-174)gCg>gTg	p.A58V	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	58					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	ATCCGAAAGGCGTACCTGGAA	0.527000													26	52					0	0	0.003954	0	0
AKT2	208	broad.mit.edu	37	19	40745982	40745982	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:40745982G>A	ENST00000392038.2	-	7	907	c.609C>T	c.(607-609)gtC>gtT	p.V203V	AKT2_ENST00000579047.1_Silent_p.V141V|AKT2_ENST00000311278.6_Silent_p.V203V|AKT2_ENST00000424901.1_Silent_p.V203V	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	203	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			TGTTCTGGAGGACCCGGCTCT	0.627000			A		"""ovarian, pancreatic """								49	128					0	0	0.003610	0	0
FLNA	2316	broad.mit.edu	37	X	153590478	153590478	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:153590478C>A	ENST00000422373.1	-	19	2943	c.2695G>T	c.(2695-2697)Gcc>Tcc	p.A899S	FLNA_ENST00000344736.4_Missense_Mutation_p.A899S|FLNA_ENST00000360319.4_Missense_Mutation_p.A899S|FLNA_ENST00000369850.3_Missense_Mutation_p.A899S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	899					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCTTTGGCATTTACTGTG	0.577000													18	95					2.48551e-13	4.06247e-13	0.004990	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713251	142713251	+	RNA	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:142713251C>A	ENST00000369381.2	-	0	1354																											TCATACATCTCTTTCATTTCC	0.383000													11	47					2.80697e-09	4.26497e-09	0.000978	1	0
CRTAC1	55118	broad.mit.edu	37	10	99667803	99667803	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:99667803C>T	ENST00000370597.3	-	6	1172	c.817G>A	c.(817-819)Gat>Aat	p.D273N	CRTAC1_ENST00000370591.2_Missense_Mutation_p.D273N|CRTAC1_ENST00000298819.4_Missense_Mutation_p.D273N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	273						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		AAGGTGCCATCGCCCCGGTTG	0.632000													5	33					0	0	0.000602	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103157037	103157037	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:103157037G>T	ENST00000375735.2	+	74	11088	c.10944G>T	c.(10942-10944)tgG>tgT	p.W3648C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.W3655C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3648					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAGCTCTGTGGCGTACTTATT	0.343000													46	146					7.88023e-25	1.45947e-24	0.003610	1	0
DUSP2	1844	broad.mit.edu	37	2	96810004	96810004	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:96810004C>T	ENST00000288943.4	-	3	704	c.619G>A	c.(619-621)Gcc>Acc	p.A207T		NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	207					endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				GGGCAGCTGGCGGACACGTTG	0.597000													15	69					0	0	0.006122	0	0
PSTK	118672	broad.mit.edu	37	10	124742257	124742257	+	Missense_Mutation	SNP	A	A	T	rs144827828		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:124742257A>T	ENST00000405485.1	+	2	291	c.225A>T	c.(223-225)caA>caT	p.Q75H	PSTK_ENST00000368887.3_Missense_Mutation_p.Q75H|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	75							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGCCATCCCAATGGAAATTGC	0.468000													27	32					0	0	0.002096	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423957	25423957	+	RNA	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:25423957G>T	ENST00000441592.2	+	0	399				SNORD115-5_ENST00000363633.1_RNA																							ATAGGATTACGCTGAGGCCCA	0.512000													69	170					5.94106e-25	1.10688e-24	0.003610	1	0
SLAIN2	57606	broad.mit.edu	37	4	48384741	48384741	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:48384741A>C	ENST00000264313.6	+	5	1437	c.1019A>C	c.(1018-1020)aAc>aCc	p.N340T	SLAIN2_ENST00000512093.1_Missense_Mutation_p.N147T	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	340						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CCTGCTGTTAACAGGTTTTCA	0.438000													17	61					0	0	0.008871	0	0
NRL	4901	broad.mit.edu	37	14	24551994	24551994	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:24551994C>G	ENST00000561028.1	-	2	383	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	NRL_ENST00000397002.2_Missense_Mutation_p.E22Q|NRL_ENST00000396997.1_Missense_Mutation_p.E22Q			P54845	NRL_HUMAN	neural retina leucine zipper	22					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CGCTTTACCTCAAACTTCATC	0.592000													13	35					0	0	0.002450	0	0
RCC2	55920	broad.mit.edu	37	1	17742997	17742997	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:17742997C>A	ENST00000375436.4	-	8	1192	c.1005G>T	c.(1003-1005)gtG>gtT	p.V335V	RCC2_ENST00000375433.3_Silent_p.V335V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	335					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CGCCACAGGCCACGTCTCGTA	0.532000													11	23					0.00185496	0.0024293	0.001855	1	0
FAM47C	442444	broad.mit.edu	37	X	37028839	37028839	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:37028839C>A	ENST00000358047.3	+	1	2408	c.2356C>A	c.(2356-2358)Ctc>Atc	p.L786I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	786										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGTATCCAGTCTCCACCTGGA	0.622000													23	71					7.87624e-14	1.30093e-13	0.002780	1	0
LDLR	3949	broad.mit.edu	37	19	11233888	11233888	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:11233888G>A	ENST00000558518.1	+	15	2366	c.2179G>A	c.(2179-2181)Gtc>Atc	p.V727I	LDLR_ENST00000545707.1_Missense_Mutation_p.V549I|LDLR_ENST00000535915.1_Missense_Mutation_p.V686I|LDLR_ENST00000558013.1_Missense_Mutation_p.V727I|LDLR_ENST00000557933.1_Missense_Mutation_p.V727I|LDLR_ENST00000455727.2_Missense_Mutation_p.V559I	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	727	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GACATCCACCGTCAGGCTAAA	0.602000													18	53					0	0	0.007413	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21956072	21956072	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:21956072C>G	ENST00000320220.9	-	11	1060	c.957G>C	c.(955-957)caG>caC	p.Q319H	ZDHHC20_ENST00000415724.1_Intron|ZDHHC20_ENST00000400590.3_Intron|ZDHHC20_ENST00000382466.3_Intron|ZDHHC20_ENST00000494731.1_Intron|ZDHHC20_ENST00000542645.1_Intron			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	0						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		CTTTCTACCTCTGCAGTTTAG	0.413000													10	8					0	0	0.000978	0	0
USH2A	7399	broad.mit.edu	37	1	215848193	215848193	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:215848193C>A	ENST00000366943.2	-	63	13446	c.13060G>T	c.(13060-13062)Gct>Tct	p.A4354S	USH2A_ENST00000307340.3_Missense_Mutation_p.A4354S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4354					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGGAGCAGCCTCCAGAGTT	0.512000										HNSCC(13;0.011)			6	18					0.00116845	0.00154314	0.001168	1	0
NCOA4	8031	broad.mit.edu	37	10	51585080	51585080	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:51585080C>A	ENST00000452682.1	+	9	1479	c.1227C>A	c.(1225-1227)aaC>aaA	p.N409K	NCOA4_ENST00000374082.1_Missense_Mutation_p.N393K|NCOA4_ENST00000414907.2_Missense_Mutation_p.N227K|NCOA4_ENST00000344348.6_Missense_Mutation_p.N393K|NCOA4_ENST00000430396.2_Missense_Mutation_p.N293K|NCOA4_ENST00000374087.4_Missense_Mutation_p.N393K|NCOA4_ENST00000438493.1_Missense_Mutation_p.N409K|NCOA4_ENST00000443446.1_Missense_Mutation_p.N393K	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	393					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTGTCCAGAACCATCAGGACC	0.512000			T	RET	papillary thyroid								7	64					3.09899e-07	4.5862e-07	0.004482	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28970178	28970178	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:28970178C>T	ENST00000320805.4	+	6	1062	c.987C>T	c.(985-987)atC>atT	p.I329I	RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000568148.1_Silent_p.I37I|NFATC2IP_ENST00000564978.1_Silent_p.I50I	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	329						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TGGCTGACATCATTGGTGAGA	0.587000													10	38					0	0	0.008291	0	0
CNP	1267	broad.mit.edu	37	17	40125781	40125781	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:40125781C>T	ENST00000393892.2	+	4	1249	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	CNP_ENST00000393888.1_Missense_Mutation_p.R349W|CNP_ENST00000591072.1_Missense_Mutation_p.R134W|CNP_ENST00000472031.1_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase	369					cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGAGCTAAGCCGGGGCAAGCT	0.622000													5	37					0	0	0.001168	0	0
OSR2	116039	broad.mit.edu	37	8	99961691	99961691	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:99961691G>C	ENST00000297565.4	+	2	1007	c.511G>C	c.(511-513)Gag>Cag	p.E171Q	OSR2_ENST00000523368.1_Missense_Mutation_p.E171Q|OSR2_ENST00000435298.2_Missense_Mutation_p.E171Q|OSR2_ENST00000522510.1_Missense_Mutation_p.E171Q|OSR2_ENST00000457907.2_Missense_Mutation_p.E292Q	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	171					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			AACGAAAAAAGAGTTTATCTG	0.517000													56	373					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179453672	179453672	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:179453672C>T	ENST00000589042.1	-	304	63004	c.62780G>A	c.(62779-62781)cGt>cAt	p.R20927H	TTN_ENST00000342175.6_Missense_Mutation_p.R12054H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19286H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18359H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11862H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11987H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19286	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R12054H(1)|p.R11862H(1)|p.R11987H(1)|p.R18357H(1)|p.R18359H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATGAGACGTGTTACTGT	0.383000													10	30					0	0	0.008291	0	0
NSMAF	8439	broad.mit.edu	37	8	59502047	59502047	+	Silent	SNP	G	G	A	rs140144207		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:59502047G>A	ENST00000038176.3	-	26	2387	c.2175C>T	c.(2173-2175)aaC>aaT	p.N725N	NSMAF_ENST00000427130.2_Silent_p.N756N	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	725					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AATATAGCCTGTTGTCATGCC	0.343000													50	26					0	0	0.003610	0	0
COL6A3	1293	broad.mit.edu	37	2	238268750	238268750	+	Missense_Mutation	SNP	G	G	A	rs113896755		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:238268750G>A	ENST00000295550.4	-	17	6715	c.6263C>T	c.(6262-6264)cCg>cTg	p.P2088L	COL6A3_ENST00000347401.3_Missense_Mutation_p.P1887L|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1481L|COL6A3_ENST00000346358.4_Missense_Mutation_p.P1888L|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1882L|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1882L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2088	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCTGGCCCGGGCAGCCCTG	0.607000													10	23					0	0	0.001368	0	0
ATP2B2	491	broad.mit.edu	37	3	10400586	10400586	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:10400586G>T	ENST00000397077.1	-	13	2365	c.1790C>A	c.(1789-1791)gCg>gAg	p.A597E	ATP2B2_ENST00000352432.4_Missense_Mutation_p.A642E|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A628E|ATP2B2_ENST00000383800.4_Missense_Mutation_p.A597E|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A642E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	642					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGCTCTCCCGCCCCATTGAG	0.612000													7	24					0.000274275	0.000370035	0.004482	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155932975	155932975	+	Splice_Site	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:155932975C>T	ENST00000368316.1	-	12	1111		c.e12-1		ARHGEF2_ENST00000361247.4_Splice_Site|ARHGEF2_ENST00000313667.4_Splice_Site|ARHGEF2_ENST00000313695.7_Splice_Site|ARHGEF2_ENST00000368315.3_Splice_Site			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGGATTAGCTCTGTGGGGGAC	0.552000													9	81					0	0	0.000978	0	0
RPTN	126638	broad.mit.edu	37	1	152129178	152129178	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:152129178G>A	ENST00000316073.3	-	3	461	c.397C>T	c.(397-399)Cac>Tac	p.H133Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	133	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACTGTGGTGGGAGTTCTGC	0.527000													78	604					0	0	0.003610	0	0
KARS	3735	broad.mit.edu	37	16	75665656	75665656	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:75665656C>A	ENST00000319410.5	-	9	1218	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.C338F	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	338					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTAGAACTCACAGGTGGTGAA	0.493000													33	71					5.8336e-16	9.9505e-16	0.003271	1	0
DRGX	644168	broad.mit.edu	37	10	50594830	50594830	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:50594830C>A	ENST00000374139.2	-	4	319	c.309G>T	c.(307-309)aaG>aaT	p.K103N	DRGX_ENST00000434016.1_Missense_Mutation_p.K108N			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	108					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CCATGGGCTCCTTGGCTCCTG	0.597000													109	202					7.56076e-47	1.48838e-46	0.003610	1	0
GABRA5	2558	broad.mit.edu	37	15	27128317	27128317	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:27128317C>T	ENST00000335625.5	+	5	1101	c.213C>T	c.(211-213)cgC>cgT	p.R71R	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000355395.5_Silent_p.R71R|GABRA5_ENST00000400081.3_Silent_p.R71R|GABRB3_ENST00000541819.2_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTCAGAGCGCATCACTCAGG	0.612000													9	19					0	0	0.004482	0	0
ZIC5	85416	broad.mit.edu	37	13	100622427	100622427	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:100622427G>C	ENST00000267294.4	-	1	1736	c.1503C>G	c.(1501-1503)gtC>gtG	p.V501V		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	501					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCGCGCGAAGACCTTGCCGC	0.657000													15	51					0	0	0.004007	0	0
RIMS2	9699	broad.mit.edu	37	8	105263841	105263841	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:105263841G>T	ENST00000507740.1	+	22	3521	c.3285G>T	c.(3283-3285)tgG>tgT	p.W1095C	RIMS2_ENST00000262231.10_Missense_Mutation_p.W1120C|RIMS2_ENST00000339750.2_Missense_Mutation_p.W217C|RIMS2_ENST00000406091.3_Missense_Mutation_p.W1281C|RIMS2_ENST00000436393.2_Missense_Mutation_p.W1299C	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1343					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCATCGTCTGGGGAGATTATG	0.363000										HNSCC(12;0.0054)			25	173					5.61819e-17	9.71543e-17	0.005443	1	0
GH2	2689	broad.mit.edu	37	17	61957720	61957720	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:61957720G>C	ENST00000423893.2	-	5	676	c.615C>G	c.(613-615)atC>atG	p.I205M	GH2_ENST00000449787.2_Missense_Mutation_p.I190M|GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	205						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGCACTGCACGATGCGCAGGA	0.587000													36	129					0	0	0.003755	0	0
UQCC1	55245	broad.mit.edu	37	20	33891826	33891826	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:33891826C>A	ENST00000374385.5	-	10	989	c.812G>T	c.(811-813)gGg>gTg	p.G271V	UQCC_ENST00000349714.5_Missense_Mutation_p.G244V|UQCC_ENST00000407996.2_Missense_Mutation_p.G134V|UQCC_ENST00000397556.3_Missense_Mutation_p.G172V|UQCC_ENST00000374377.5_Missense_Mutation_p.G159V|UQCC_ENST00000374380.2_Missense_Mutation_p.G203V|UQCC_ENST00000374384.2_Missense_Mutation_p.G245V|UQCC_ENST00000359226.2_Missense_Mutation_p.G191V|UQCC_ENST00000540457.1_Missense_Mutation_p.G116V	NM_018244.4	NP_060714.3	Q9NVA1	UQCC_HUMAN		271						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTCACCTCCCCTGTCAGAAG	0.597000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	91					2.2871e-25	4.29946e-25	0.007835	1	0
OR14K1	343170	broad.mit.edu	37	1	247901950	247901950	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:247901950C>A	ENST00000283225.2	+	1	34	c.34C>A	c.(34-36)Ctt>Att	p.L12I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GGAATTCTTGCTTGTGAGATT	0.388000													16	31					6.94344e-10	1.06796e-09	0.006122	1	0
BCOR	54880	broad.mit.edu	37	X	39933351	39933351	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:39933351T>A	ENST00000342274.4	-	4	1610	c.1248A>T	c.(1246-1248)caA>caT	p.Q416H	BCOR_ENST00000378444.4_Missense_Mutation_p.Q416H|BCOR_ENST00000397354.3_Missense_Mutation_p.Q416H|BCOR_ENST00000378455.4_Missense_Mutation_p.Q416H	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	416					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTTCTGTCTTGAACCGCTG	0.577000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						6	18					0	0	0.001168	0	0
CLINT1	9685	broad.mit.edu	37	5	157232902	157232902	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:157232902G>C	ENST00000523094.1	-	7	1065	c.860C>G	c.(859-861)tCa>tGa	p.S287*	CLINT1_ENST00000411809.2_Nonsense_Mutation_p.S305*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.S287*|CLINT1_ENST00000530742.1_Nonsense_Mutation_p.S287*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.S305*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	305					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTGTGGGTTGAAGCATTCTG	0.428000													11	39					0	0	0.001855	0	0
C17orf77	146723	broad.mit.edu	37	17	72588734	72588734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:72588734C>A	ENST00000392620.1	+	3	911	c.549C>A	c.(547-549)tgC>tgA	p.C183*	C17orf77_ENST00000328023.2_Nonsense_Mutation_p.C183*	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	183						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATGAGGAGTGCAGGGAGAGGA	0.617000													15	11					2.31682e-05	3.24459e-05	0.003163	1	0
KIFAP3	22920	broad.mit.edu	37	1	169890871	169890871	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:169890871G>T	ENST00000367765.1	-	20	3706	c.2205C>A	c.(2203-2205)gcC>gcA	p.A735A	KIFAP3_ENST00000361580.2_Silent_p.A775A|KIFAP3_ENST00000538366.1_Silent_p.A697A|KIFAP3_ENST00000367767.1_Silent_p.A731A|KIFAP3_ENST00000540905.1_Silent_p.A477A	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	775					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATATGCTGTGGCAGGGCGTC	0.408000													7	24					0.000274275	0.000370035	0.004482	1	0
SUPT6H	6830	broad.mit.edu	37	17	27014370	27014370	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:27014370A>G	ENST00000314616.6	+	23	3170	c.2887A>G	c.(2887-2889)Atc>Gtc	p.I963V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.I963V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	963					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTGTGAATTTATCAACCGAGT	0.537000													20	45					0	0	0.003330	0	0
OR13C8	138802	broad.mit.edu	37	9	107332133	107332133	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:107332133C>G	ENST00000335040.1	+	1	685	c.685C>G	c.(685-687)Cct>Gct	p.P229A		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTGAGGATTCCTTCCACTGA	0.408000													18	65					0	0	0.004990	0	0
CD99L2	83692	broad.mit.edu	37	X	149945922	149945922	+	Missense_Mutation	SNP	C	C	A	rs149951842	byFrequency	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:149945922C>A	ENST00000370377.3	-	8	647	c.530G>T	c.(529-531)gGa>gTa	p.G177V	CD99L2_ENST00000355149.3_Missense_Mutation_p.G105V|CD99L2_ENST00000466436.1_Missense_Mutation_p.G128V|CD99L2_ENST00000437787.2_Missense_Mutation_p.G104V|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	177					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCAGATCCAGGGTCGTC	0.537000													14	68					1.52009e-12	2.45886e-12	0.003163	1	0
OR8H2	390151	broad.mit.edu	37	11	55872786	55872786	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:55872786A>T	ENST00000313503.1	+	1	268	c.268A>T	c.(268-270)Aac>Tac	p.N90Y		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACTGACTTCCAACTATATTTC	0.428000										HNSCC(53;0.14)			161	215					0	0	0.003610	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633580	70633580	+	Silent	SNP	T	T	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:70633580T>C	ENST00000381269.2	-	2	2313	c.1560A>G	c.(1558-1560)acA>acG	p.T520T	SLC8A3_ENST00000356921.2_Silent_p.T520T|SLC8A3_ENST00000528359.1_Silent_p.T520T|SLC8A3_ENST00000357887.3_Silent_p.T520T|SLC8A3_ENST00000534137.1_Silent_p.T520T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	520	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGATGGTAACTGTGGCCACAC	0.507000													19	24					0	0	0.006122	0	0
TNPO2	30000	broad.mit.edu	37	19	12817069	12817069	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:12817069T>A	ENST00000425528.1	-	15	1966	c.1609A>T	c.(1609-1611)Atc>Ttc	p.I537F	TNPO2_ENST00000592287.1_Missense_Mutation_p.I537F|TNPO2_ENST00000441499.1_Missense_Mutation_p.I537F|TNPO2_ENST00000588216.1_Missense_Mutation_p.I537F|TNPO2_ENST00000356861.5_Missense_Mutation_p.I537F|TNPO2_ENST00000450764.2_Missense_Mutation_p.I537F			O14787	TNPO2_HUMAN	transportin 2	537					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCATAGAGGATGAGCAGGTTC	0.622000													16	13					0	0	0.004007	0	0
TMEM196	256130	broad.mit.edu	37	7	19765177	19765177	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:19765177C>G	ENST00000405844.1	-	3	1114	c.419G>C	c.(418-420)aGg>aCg	p.R140T	TMEM196_ENST00000493519.1_Missense_Mutation_p.R72T|TMEM196_ENST00000422233.1_Missense_Mutation_p.R72T|TMEM196_ENST00000405764.3_Missense_Mutation_p.R140T|TMEM196_ENST00000433641.1_Missense_Mutation_p.R72T			Q5HYL7	TM196_HUMAN	transmembrane protein 196	146						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GGAATGCTCCCTTTCTGAGAA	0.498000													13	38					0	0	0.001855	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901207	4901207	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:4901207C>G	ENST00000404991.1	-	1	418	c.232G>C	c.(232-234)Gaa>Caa	p.E78Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	78					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	p.E78K(1)		kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TCACTGATTTCGCGTATCCAT	0.423000													8	27					0	0	0.003080	0	0
HELZ	9931	broad.mit.edu	37	17	65110490	65110490	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:65110490C>T	ENST00000358691.5	-	28	4034	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1291K	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TTATTAATTTCAGGTCCGGAA	0.343000													11	95					0	0	0.002450	0	0
CFAP54	144535	broad.mit.edu	37	12	97078969	97078969	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:97078969C>A	ENST00000524981.3	+	9	1320	c.1320C>A	c.(1318-1320)ggC>ggA	p.G440G				Q6ZTY8	CL063_HUMAN		414										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CAAGAGTTGGCATCTGGGGGT	0.498000													13	43					1.49906e-05	2.10879e-05	0.002450	1	0
OSR1	130497	broad.mit.edu	37	2	19553371	19553371	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:19553371G>A	ENST00000536433.1	-	1	3306	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	OSR1_ENST00000272223.2_Missense_Mutation_p.R66C			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	66					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAAGAAGAGCGCGGCAAGTGC	0.607000													9	36					0	0	0.004482	0	0
PI4KB	5298	broad.mit.edu	37	1	151274762	151274762	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:151274762C>T	ENST00000368875.2	-	8	2149	c.1569G>A	c.(1567-1569)tcG>tcA	p.S523S	PI4KB_ENST00000529142.1_Silent_p.S179S|PI4KB_ENST00000271657.5_Silent_p.S523S|PI4KB_ENST00000368874.4_Silent_p.S496S|PI4KB_ENST00000368873.1_Silent_p.S511S|PI4KB_ENST00000368872.1_Silent_p.S496S	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	511					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGCTGTTCCGAAAGGCGCC	0.537000													31	174					0	0	0.002445	0	0
DNAH17	8632	broad.mit.edu	37	17	76562785	76562785	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:76562785C>T	ENST00000389840.5	-	11	1604	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	DNAH17_ENST00000585328.1_Missense_Mutation_p.E494K					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATTTTGATCTCAAAATCAGCA	0.468000													8	29					0	0	0.004482	0	0
ANO5	203859	broad.mit.edu	37	11	22294412	22294412	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:22294412G>T	ENST00000324559.8	+	19	2429	c.2112G>T	c.(2110-2112)gaG>gaT	p.E704D	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	704						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATTGTAGAGATTCGAGTGG	0.378000													34	32					1.22384e-17	2.13404e-17	0.002836	1	0
C1orf173	127254	broad.mit.edu	37	1	75037631	75037631	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:75037631C>G	ENST00000326665.5	-	14	3981	c.3763G>C	c.(3763-3765)Gag>Cag	p.E1255Q	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1255	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTCTCCCCTCCAGTCCTGCG	0.592000													27	64					0	0	0.003954	0	0
SPTLC2	9517	broad.mit.edu	37	14	77978644	77978644	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:77978644C>G	ENST00000216484.2	-	12	1865	c.1672G>C	c.(1672-1674)Gaa>Caa	p.E558Q		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	558						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTGTTTCTTCATACGTCGTC	0.512000													28	43					0	0	0.002096	0	0
ETNPPL	64850	broad.mit.edu	37	4	109670459	109670459	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:109670459A>T	ENST00000296486.3	-	8	1016	c.862T>A	c.(862-864)Tgt>Agt	p.C288S	ETNPPL_ENST00000411864.2_Missense_Mutation_p.C282S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.C230S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.C248S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase																		GTTACCACACATGCCACCGGG	0.453000													18	87					0	0	0.006122	0	0
IQSEC3	440073	broad.mit.edu	37	12	176425	176425	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:176425G>T	ENST00000538872.1	+	1	495	c.377G>T	c.(376-378)cGg>cTg	p.R126L	IQSEC3_ENST00000326261.4_Missense_Mutation_p.R126L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	126					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CAGCCCCAGCGGGGCCCTGGC	0.711000													5	43					8.12818e-05	0.00011183	0.001984	1	0
OR5H6	79295	broad.mit.edu	37	3	97983941	97983941	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:97983941C>T	ENST00000383696.2	+	1	854	c.813C>T	c.(811-813)ctC>ctT	p.L271L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGCCCCCTCACCTTCAAAT	0.408000													14	66					0	0	0.002450	0	0
CASR	846	broad.mit.edu	37	3	121980671	121980671	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:121980671G>A	ENST00000498619.1	+	4	1227	c.789G>A	c.(787-789)acG>acA	p.T263T	CASR_ENST00000490131.1_Silent_p.T263T|CASR_ENST00000296154.5_Silent_p.T263T	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	263					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAATTCCACGGCCAAAGTCA	0.517000													127	63					0	0	0.003610	0	0
PTGER3	5733	broad.mit.edu	37	1	71418726	71418726	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:71418726T>A	ENST00000356595.4	-	4	1331	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_3'UTR	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	ctgagagttctgcaaactgca	0.333000													20	36					0	0	0.008871	0	0
MYO3A	53904	broad.mit.edu	37	10	26305776	26305776	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:26305776G>T	ENST00000265944.5	+	7	702	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MYO3A_ENST00000376302.1_Missense_Mutation_p.R179L|MYO3A_ENST00000376301.1_Missense_Mutation_p.R179L|MYO3A_ENST00000543632.1_Missense_Mutation_p.R179L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	179	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACCAGTACCCGGCACCGTCGG	0.433000													10	43					0.000673444	0.000895066	0.008291	1	0
AIRE	326	broad.mit.edu	37	21	45712930	45712930	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr21:45712930C>G	ENST00000291582.5	+	10	1277	c.1150C>G	c.(1150-1152)Ccc>Gcc	p.P384A	AIRE_ENST00000355347.4_Missense_Mutation_p.P177A|AIRE_ENST00000329347.4_Intron	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	384					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		ACCTGGGGAACCCCTAGCCGG	0.697000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				24	15					0	0	0.003330	0	0
DVL1	1855	broad.mit.edu	37	1	1277490	1277490	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:1277490T>A	ENST00000378888.5	-	4	693	c.409A>T	c.(409-411)Acg>Tcg	p.T137S	DVL1_ENST00000378891.5_Missense_Mutation_p.T137S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	137					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATGGACTCCGTGCCTGTCTCG	0.677000													3	10					0	0	0.000602	0	0
BTNL8	79908	broad.mit.edu	37	5	180377380	180377380	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:180377380C>T	ENST00000340184.4	+	8	1545	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	BTNL8_ENST00000400707.3_Missense_Mutation_p.P322S|BTNL8_ENST00000511704.1_Missense_Mutation_p.P331S|BTNL8_ENST00000505126.1_Missense_Mutation_p.P240S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.P263S|BTNL8_ENST00000231229.4_3'UTR	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	447	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-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)			CATTGAGTATCCGTCCTATAA	0.473000													34	304					0	0	0.004878	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585458	70585458	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:70585458C>A	ENST00000260126.3	-	10	2899	c.2193G>T	c.(2191-2193)gtG>gtT	p.V731V	SLCO5A1_ENST00000530307.1_Silent_p.V676V|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	731						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAAACGACGTCACGTTGTACT	0.458000													44	191					1.02591e-13	1.68561e-13	0.002522	1	0
ZNF165	7718	broad.mit.edu	37	6	28057124	28057124	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:28057124G>T	ENST00000377325.1	+	4	1890	c.1334G>T	c.(1333-1335)cGa>cTa	p.R445L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	445					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCTTATTCGACACTTTAGA	0.438000													8	25					0.000274275	0.000370035	0.004482	1	0
TENM1	10178	broad.mit.edu	37	X	124029982	124029982	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:124029982G>T	ENST00000422452.2	-	2	389	c.326C>A	c.(325-327)aCa>aAa	p.T109K	TENM1_ENST00000371130.3_Missense_Mutation_p.T109K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TTCTGTCTCTGTGTCCACATC	0.507000													59	204					8.52622e-23	1.52935e-22	0.003610	1	0
TMEM255B	348013	broad.mit.edu	37	13	114472084	114472084	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:114472084C>A	ENST00000375353.3	+	3	230	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_182614.2	NP_872420.1			transmembrane protein 255B																		GGCTTTGGATCTTTCTTAGGA	0.443000													24	45					7.4402e-23	1.34224e-22	0.003954	1	0
KRTAP6-3	337968	broad.mit.edu	37	21	31965031	31965031	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr21:31965031C>A	ENST00000391624.1	+	1	273	c.246C>A	c.(244-246)caC>caA	p.H82Q		NM_181605.3	NP_853636.3			keratin associated protein 6-3											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						ATGTCTCCCACTCCTTCTGTG	0.572000													7	26					8.12818e-05	0.00011183	0.001984	1	0
PCDHGB4	8641	broad.mit.edu	37	5	140769383	140769383	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140769383G>T	ENST00000519479.1	+	1	1932	c.1932G>T	c.(1930-1932)gtG>gtT	p.V644V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGCCGTGCGTGACGGTG	0.697000													34	18					1.06647e-15	1.80925e-15	0.003755	1	0
DKK2	27123	broad.mit.edu	37	4	107845305	107845305	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:107845305C>A	ENST00000285311.3	-	4	1291	c.586G>T	c.(586-588)Gct>Tct	p.A196S	DKK2_ENST00000510463.1_Missense_Mutation_p.A150S|DKK2_ENST00000513208.1_Missense_Mutation_p.A96S	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	196	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AAATGACGAGCACAGCAAAAC	0.483000													12	87					1.61879e-10	2.5208e-10	0.001368	1	0
PXDNL	137902	broad.mit.edu	37	8	52370113	52370113	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:52370113A>T	ENST00000356297.4	-	9	1027	c.927T>A	c.(925-927)aaT>aaA	p.N309K	PXDNL_ENST00000543296.1_Missense_Mutation_p.N309K	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	309	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCCAGCGGAATTTCTGGCCA	0.438000													32	127					0	0	0.002096	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967966	161967966	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:161967966G>C	ENST00000294794.3	-	6	1546	c.1123C>G	c.(1123-1125)Ctg>Gtg	p.L375V	OLFML2B_ENST00000367940.2_Missense_Mutation_p.L376V	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	375										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGCTGTGGCAGTGCTGAGGAC	0.622000													35	331					0	0	0.007835	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975251	32975251	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:32975251G>A	ENST00000229829.5	-	3	525	c.450C>T	c.(448-450)aaC>aaT	p.N150N	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.N120N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	150	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.N150N(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CAGTTTGGCCGTTGCGCAGCC	0.587000													34	108					0	0	0.003271	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787383	109787383	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:109787383C>A	ENST00000230122.3	-	7	1932	c.1765G>T	c.(1765-1767)Gct>Tct	p.A589S		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGATTAGCAGCCTGGTCTGCA	0.468000													64	23					2.84776e-26	5.41853e-26	0.003610	1	0
DQX1	165545	broad.mit.edu	37	2	74749872	74749872	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:74749872C>T	ENST00000404568.3	-	8	1549	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	DQX1_ENST00000393951.2_Missense_Mutation_p.E444K	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	444	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TCTAAATCTTCCAGGGCTTGC	0.532000													46	180					0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82585370	82585370	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:82585370G>A	ENST00000423517.2	-	5	5236	c.4899C>T	c.(4897-4899)gaC>gaT	p.D1633D	PCLO_ENST00000333891.8_Silent_p.D1633D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1564					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						ATGCTTCATCGTCTTCATCAT	0.428000													79	158					0	0	0.003610	0	0
NSG1	27065	broad.mit.edu	37	4	4411341	4411341	+	Nonsense_Mutation	SNP	C	C	A	rs139819280		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:4411341C>A	ENST00000421177.2	+	8	2279	c.288C>A	c.(286-288)tgC>tgA	p.C96*	NSG1_ENST00000433139.2_Nonsense_Mutation_p.C96*|NSG1_ENST00000504171.1_Nonsense_Mutation_p.C57*|NSG1_ENST00000397958.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000513555.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000506380.1_Nonsense_Mutation_p.C96*|NSG1_ENST00000505246.1_Nonsense_Mutation_p.C96*																							TCCTCACCTGCGTCGTCTTCC	0.607000													16	66					1.15919e-05	1.63804e-05	0.008871	1	0
DNAH3	55567	broad.mit.edu	37	16	21073803	21073803	+	Splice_Site	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:21073803C>A	ENST00000261383.3	-	25	3719	c.3720_splice	c.e25+1	p.K1240_splice	DNAH3_ENST00000415178.1_Splice_Site_p.K1240_splice	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1240	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGGAGTTACCTTGGCATTAG	0.438000													25	45					4.4004e-07	6.48153e-07	0.003330	1	0
HIST1H3C	8352	broad.mit.edu	37	6	26045930	26045930	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr6:26045930G>A	ENST00000540144.1	+	1	292	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGAGGCTTGTGAGGCCTACCT	0.577000													15	56					0	0	0.004990	0	0
MROH9	80133	broad.mit.edu	37	1	170927673	170927673	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:170927673G>C	ENST00000367759.4	+	4	298	c.144G>C	c.(142-144)gtG>gtC	p.V48V	MROH9_ENST00000367758.3_Silent_p.V48V	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCCTGGCTGTGAACTCCAGGT	0.313000													17	46					0	0	0.006122	0	0
ANO3	63982	broad.mit.edu	37	11	26620502	26620502	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:26620502A>G	ENST00000256737.3	+	16	2480	c.1628A>G	c.(1627-1629)aAa>aGa	p.K543R	ANO3_ENST00000525139.1_Missense_Mutation_p.K527R|ANO3_ENST00000537978.1_Missense_Mutation_p.K527R|ANO3_ENST00000531568.1_Missense_Mutation_p.K397R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	543						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCCTCAGACAAAGTCACTCGT	0.388000													13	40					0	0	0.001368	0	0
PDS5B	23047	broad.mit.edu	37	13	33281085	33281085	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr13:33281085A>T	ENST00000315596.10	+	18	2057	c.1871A>T	c.(1870-1872)cAa>cTa	p.Q624L		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	624					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTATTAAACAAGTGAACAAA	0.343000													19	30					0	0	0.001882	0	0
PCDH19	57526	broad.mit.edu	37	X	99663107	99663107	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:99663107C>A	ENST00000373034.4	-	1	2164	c.489G>T	c.(487-489)gtG>gtT	p.V163V	PCDH19_ENST00000255531.7_Silent_p.V163V|PCDH19_ENST00000420881.2_Silent_p.V163V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	163	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGTAAGTCTGCACGCCAAAGC	0.637000													24	76					1.10923e-09	1.70191e-09	0.002780	1	0
POLR1B	84172	broad.mit.edu	37	2	113317097	113317097	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:113317097G>T	ENST00000263331.5	+	9	2138	c.1558G>T	c.(1558-1560)Gtt>Ttt	p.V520F	POLR1B_ENST00000417433.2_Missense_Mutation_p.V464F|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.V558F|POLR1B_ENST00000537335.1_Missense_Mutation_p.V309F	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	520					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CGTATGTGAGGTTGTCACACA	0.507000													35	35					2.09667e-21	3.73935e-21	0.003755	1	0
WNT2	7472	broad.mit.edu	37	7	116963035	116963035	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:116963035G>A	ENST00000265441.3	-	1	308	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	3					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACCGAGAGGGGCGTTCATAT	0.647000													14	26					0	0	0.002450	0	0
HEATR1	55127	broad.mit.edu	37	1	236727928	236727928	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:236727928C>A	ENST00000366582.3	-	32	4583	c.4469G>T	c.(4468-4470)aGt>aTt	p.S1490I	HEATR1_ENST00000366581.2_Missense_Mutation_p.S1409I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1490					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGTGATTCACTCTTATTAAA	0.363000													16	40					5.35267e-07	7.81065e-07	0.007413	1	0
ZBTB11	27107	broad.mit.edu	37	3	101390754	101390754	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:101390754G>C	ENST00000461821.1	-	2	817	c.614C>G	c.(613-615)aCt>aGt	p.T205S	ZBTB11_ENST00000312938.4_Intron			O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAAAATAAGTCACCAAGGC	0.353000													18	14					0	0	0.004990	0	0
FREM1	158326	broad.mit.edu	37	9	14842328	14842328	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:14842328C>T	ENST00000380881.4	-	10	2542	c.1727G>A	c.(1726-1728)gGg>gAg	p.G576E	FREM1_ENST00000380880.3_Missense_Mutation_p.G575E|FREM1_ENST00000422223.2_Missense_Mutation_p.G575E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	575					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGTCCTGGCCCTGGCTTCTT	0.468000													30	29					0	0	0.008361	0	0
CNTN6	27255	broad.mit.edu	37	3	1418747	1418747	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:1418747C>A	ENST00000446702.2	+	17	2781	c.2154C>A	c.(2152-2154)gtC>gtA	p.V718V	CNTN6_ENST00000350110.2_Silent_p.V718V|CNTN6_ENST00000539053.1_Silent_p.V646V			Q9UQ52	CNTN6_HUMAN	contactin 6	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAACTCGTCATTACGTGGG	0.378000													24	55					1.96895e-08	2.95578e-08	0.002780	1	0
MRPL47	57129	broad.mit.edu	37	3	179322349	179322349	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:179322349A>T	ENST00000476781.1	-	1	93	c.64T>A	c.(64-66)Tcg>Acg	p.S22T	MRPL47_ENST00000392659.2_5'UTR|MRPL47_ENST00000259038.2_Missense_Mutation_p.S22T	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	22					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GTTATTAACGATCGGGAAGAT	0.507000													105	69					0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41150094	41150094	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:41150094A>T	ENST00000263413.3	-	16	2588	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q	C6_ENST00000337836.5_Missense_Mutation_p.L775Q	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	775	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGTCCCAGCTGACAATG	0.383000													14	35					0	0	0.001855	0	0
C2CD3	26005	broad.mit.edu	37	11	73760518	73760518	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:73760518C>G	ENST00000334126.7	-	27	5451	c.5225G>C	c.(5224-5226)tGt>tCt	p.C1742S	C2CD3_ENST00000313663.7_Missense_Mutation_p.C1742S			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1742						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTACCAGCCACAGACAAACTG	0.502000													20	25					0	0	0.001523	0	0
SOGA2	23255	broad.mit.edu	37	18	8819028	8819028	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr18:8819028G>T	ENST00000359865.3	+	13	3069	c.2927G>T	c.(2926-2928)cGc>cTc	p.R976L	SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Missense_Mutation_p.R935L|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.R1295L|SOGA2_ENST00000400050.3_Missense_Mutation_p.R935L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1286																	GGCAACGTTCGCCCCTTTCCC	0.532000													50	26					6.34439e-16	1.07924e-15	0.003610	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604502	140604502	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140604502C>A	ENST00000239449.4	+	1	1425	c.1425C>A	c.(1423-1425)gcC>gcA	p.A475A	PCDHB14_ENST00000515856.2_Silent_p.A322A	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		475	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGTCAGCGCCACAGACAGAG	0.647000													113	76					3.87673e-39	7.60762e-39	0.003610	1	0
LRMP	4033	broad.mit.edu	37	12	25256954	25256954	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:25256954G>C	ENST00000354454.3	+	18	1837	c.1008G>C	c.(1006-1008)atG>atC	p.M336I	LRMP_ENST00000548766.1_Missense_Mutation_p.M336I|LRMP_ENST00000547044.1_Missense_Mutation_p.M336I	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	392					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGGCTGGGATGGAAAATAATG	0.313000													6	33					0	0	0.001984	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338157	13338157	+	RNA	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:13338157C>G	ENST00000602906.1	+	0	175																				kidney(3)|lung(1)	4						TTTTGCCTTTCAGGCAGAAAT	0.438000													10	34					0	0	0.008291	0	0
CRYGD	1421	broad.mit.edu	37	2	208986402	208986402	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:208986402A>T	ENST00000264376.4	-	3	547	c.520T>A	c.(520-522)Tcc>Acc	p.S174T		NM_006891.3	NP_008822.2	P07320	CRGD_HUMAN	crystallin, gamma D	174					cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		ATATTTCAGGAGAAATCTATG	0.453000													17	24					0	0	0.006122	0	0
FGF13	2258	broad.mit.edu	37	X	137793015	137793015	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:137793015G>C	ENST00000315930.6	-	1	812	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V	FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000541469.1_Intron	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	51					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GAGCCGAAGAGTTTGACCCGG	0.542000													19	160					0	0	0.008871	0	0
RP1L1	94137	broad.mit.edu	37	8	10465236	10465236	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:10465236C>A	ENST00000382483.3	-	4	6595	c.6372G>T	c.(6370-6372)gaG>gaT	p.E2124D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2124					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGGCTGGGCCTCCCCTTCAG	0.627000													151	175					5.24422e-81	1.04218e-80	0.003610	1	0
MAGEA1	4100	broad.mit.edu	37	X	152482692	152482692	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:152482692C>G	ENST00000356661.5	-	3	537	c.319G>C	c.(319-321)Gct>Cct	p.A107P		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	107	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAATCAGCCACCTTCTTA	0.502000													9	212					0	0	0.004482	0	0
TEX15	56154	broad.mit.edu	37	8	30701132	30701132	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:30701132G>T	ENST00000256246.2	-	1	5476	c.5402C>A	c.(5401-5403)tCc>tAc	p.S1801Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1801										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAAGCAATCGGAACAATGCTC	0.328000													12	16					4.36969e-10	6.75414e-10	0.001855	1	0
ZNF208	7757	broad.mit.edu	37	19	22154452	22154452	+	Silent	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373000													4	54					0	0	0.000248	0	0
HAP1	9001	broad.mit.edu	37	17	39881304	39881304	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:39881304C>T	ENST00000393939.2	-	10	1443	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	HAP1_ENST00000341193.5_Silent_p.T486T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.T555T|HAP1_ENST00000347901.4_Silent_p.T503T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	531	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTCCGCAGGCGTGAAATCTT	0.602000													84	250					0	0	0.003610	0	0
CHP2	63928	broad.mit.edu	37	16	23768583	23768583	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr16:23768583G>A	ENST00000300113.2	+	6	899	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	159	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		ATCGCTGACCGCACGGTGCAG	0.572000													14	34					0	0	0.002450	0	0
NLRP2	55655	broad.mit.edu	37	19	55497540	55497540	+	Silent	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:55497540T>A	ENST00000543010.1	+	8	2366	c.2223T>A	c.(2221-2223)gcT>gcA	p.A741A	NLRP2_ENST00000339757.7_Silent_p.A719A|NLRP2_ENST00000263437.6_Silent_p.A738A|NLRP2_ENST00000537859.1_Silent_p.A719A|NLRP2_ENST00000538819.1_Silent_p.A717A|NLRP2_ENST00000448584.2_Silent_p.A741A|NLRP2_ENST00000427260.2_Silent_p.A718A|NLRP2_ENST00000391721.4_Silent_p.A717A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	741					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCCCCAGCTGATGCTCATC	0.448000													11	17					0	0	0.008291	0	0
STIL	6491	broad.mit.edu	37	1	47746501	47746501	+	Silent	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:47746501A>G	ENST00000360380.3	-	13	1992	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A	STIL_ENST00000371877.3_Silent_p.A543A|STIL_ENST00000396221.2_Silent_p.A543A|STIL_ENST00000337817.5_Silent_p.A543A|STIL_ENST00000243182.6_Silent_p.A543A			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	543					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTACATTTCCAGCAGAAACTG	0.413000													25	64					0	0	0.004656	0	0
MXRA5	25878	broad.mit.edu	37	X	3248399	3248399	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:3248399G>A	ENST00000217939.6	-	4	523	c.369C>T	c.(367-369)ctC>ctT	p.L123L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	123						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)				AGAGACCCTGGAGGGTCTGTC	0.453000													11	28					0	0	0.000978	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908279	164908279	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:164908279G>T	ENST00000475390.1	-	2	783	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	SLITRK3_ENST00000241274.3_Missense_Mutation_p.Q114K			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	114						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TGAATGTCCTGCAATGCATTG	0.343000										HNSCC(40;0.11)			33	14					2.48696e-23	4.53888e-23	0.003271	1	0
LPPR4	9890	broad.mit.edu	37	1	99772038	99772038	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:99772038C>A	ENST00000370185.3	+	7	2261	c.1764C>A	c.(1762-1764)gtC>gtA	p.V588V	LPPR4_ENST00000457765.1_Silent_p.V530V|LPPR4_ENST00000370184.1_Silent_p.V430V	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		588							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGGGTGTCCTCCAAAGCA	0.532000													14	28					2.61681e-11	4.14715e-11	0.002450	1	0
CDX4	1046	broad.mit.edu	37	X	72667491	72667491	+	Silent	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:72667491G>T	ENST00000373514.2	+	1	402	c.402G>T	c.(400-402)ggG>ggT	p.G134G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	134						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCTGGCGGGTCGCTTGTCC	0.682000													10	25					5.16669e-11	8.14697e-11	0.000978	1	0
TNC	3371	broad.mit.edu	37	9	117800574	117800574	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:117800574C>T	ENST00000350763.4	-	20	5889	c.5478G>A	c.(5476-5478)gtG>gtA	p.V1826V	TNC_ENST00000542877.1_Silent_p.V1463V|TNC_ENST00000345230.3_Silent_p.V1189V|TNC_ENST00000341037.4_Silent_p.V1644V|TNC_ENST00000423613.2_Silent_p.V1553V|TNC_ENST00000535648.1_Silent_p.V1371V|TNC_ENST00000537320.1_Silent_p.V1189V|TNC_ENST00000346706.3_Silent_p.V1280V|TNC_ENST00000340094.3_Silent_p.V1462V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1826	Fibronectin type-III 14.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATAACTGTCCACAGTGGCAA	0.512000													12	63					0	0	0.001368	0	0
SVEP1	79987	broad.mit.edu	37	9	113148263	113148263	+	Silent	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr9:113148263A>G	ENST00000401783.2	-	43	10488	c.10152T>C	c.(10150-10152)tgT>tgC	p.C3384C	SVEP1_ENST00000374469.1_Silent_p.C3361C|SVEP1_ENST00000297826.5_Silent_p.C1310C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3384	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACCTTCCCTACATTTGATGG	0.483000													23	68					0	0	0.003954	0	0
MTRR	4552	broad.mit.edu	37	5	7892945	7892945	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:7892945G>T	ENST00000264668.2	+	11	1587	c.1557G>T	c.(1555-1557)tgG>tgT	p.W519C	MTRR_ENST00000440940.2_Missense_Mutation_p.W492C	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	519	FAD-binding FR-type.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	GTACAGGCTGGCTGGCCTTGT	0.463000													38	27					2.75727e-19	4.87586e-19	0.004878	1	0
ARAP2	116984	broad.mit.edu	37	4	36195256	36195256	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:36195256G>C	ENST00000303965.4	-	7	1990	c.1501C>G	c.(1501-1503)Caa>Gaa	p.Q501E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	501	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CATCTCTTTTGAAACATGCGT	0.269000													12	37					0	0	0.001855	0	0
SNRK	54861	broad.mit.edu	37	3	43389872	43389872	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:43389872C>T	ENST00000296088.7	+	7	2425	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	SNRK_ENST00000429705.2_Silent_p.F707F|SNRK_ENST00000437827.1_Silent_p.F501F|SNRK_ENST00000454177.1_Silent_p.F707F	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	707					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TAAAGTTTTTCTCTGACCACA	0.473000													20	40					0	0	0.001523	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169820	90169820	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:90169820G>A	ENST00000333209.3	-	2	1960	c.1442C>T	c.(1441-1443)aCa>aTa	p.T481I		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	481										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCCATAACTTGTTTCAGCTTG	0.443000													32	74					0	0	0.004289	0	0
CENPB	1059	broad.mit.edu	37	20	3765998	3765998	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr20:3765998G>C	ENST00000379751.4	-	1	1339	c.1133C>G	c.(1132-1134)tCg>tGg	p.S378W		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	378					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GGCTATGTCCGAAGGCTCCAC	0.647000													4	9					0	0	0.000248	0	0
CLTC	1213	broad.mit.edu	37	17	57721648	57721648	+	Silent	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:57721648G>C	ENST00000269122.3	+	2	328	c.54G>C	c.(52-54)ctG>ctC	p.L18L	CLTC_ENST00000393043.1_Silent_p.L18L|CLTC_ENST00000579456.1_Silent_p.L18L	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	18	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					tccagaacctgggtatcaacc	0.408000			T	"""ALK, TFE3"""	"""ALCL, renal """								6	34					0	0	0.003080	0	0
COL22A1	169044	broad.mit.edu	37	8	139737670	139737670	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:139737670G>T	ENST00000303045.6	-	24	2599	c.2153C>A	c.(2152-2154)cCc>cAc	p.P718H	COL22A1_ENST00000435777.1_Missense_Mutation_p.P718H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	718	Collagen-like 5.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GACACCAGGGGGTCCTGGAGG	0.577000										HNSCC(7;0.00092)			26	124					1.7881e-09	2.72348e-09	0.008361	1	0
PCDH15	65217	broad.mit.edu	37	10	55912898	55912898	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:55912898C>A	ENST00000373965.2	-	15	2161	c.1767G>T	c.(1765-1767)acG>acT	p.T589T	PCDH15_ENST00000395445.1_Silent_p.T589T|PCDH15_ENST00000437009.1_Silent_p.T582T|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.T193T|PCDH15_ENST00000373957.3_Silent_p.T560T|PCDH15_ENST00000373955.1_Silent_p.T582T|PCDH15_ENST00000361849.3_Silent_p.T582T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Silent_p.T582T|PCDH15_ENST00000395432.2_Silent_p.T545T|PCDH15_ENST00000395438.1_Silent_p.T582T|PCDH15_ENST00000320301.6_Silent_p.T582T|PCDH15_ENST00000395430.1_Silent_p.T582T|PCDH15_ENST00000395433.1_Silent_p.T560T|PCDH15_ENST00000414778.1_Silent_p.T587T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	582	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGCTTGGACCGTGAGTGCGT	0.473000										HNSCC(58;0.16)			55	79					3.28156e-27	6.28212e-27	0.003610	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95107961	95107961	+	RNA	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:95107961C>A	ENST00000469935.1	+	0	566					NR_015340.1																						CCTGGAGGGCCTGGGGTTCAC	0.647000													11	14					3.86212e-05	5.36072e-05	0.008291	1	0
CSNK1G2	1455	broad.mit.edu	37	19	1979753	1979753	+	Silent	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:1979753G>A	ENST00000255641.8	+	10	1500	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	335					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCACAGCCGACCCCCATCG	0.697000													7	14					0	0	0.001984	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407471	38407471	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:38407471G>C	ENST00000351773.3	+	8	2222	c.1392G>C	c.(1390-1392)gaG>gaC	p.E464D	ZNF37A_ENST00000361085.4_Missense_Mutation_p.E464D	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	464						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E464D(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ACACAGGGGAGAAACCTTTTG	0.413000													7	33					0	0	0.001984	0	0
RP1L1	94137	broad.mit.edu	37	8	10465235	10465235	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:10465235C>A	ENST00000382483.3	-	4	6596	c.6373G>T	c.(6373-6375)Gcc>Tcc	p.A2125S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2125					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTGGCTGGGCCTCCCCTTCA	0.627000													149	178					7.71122e-83	1.53733e-82	0.003610	1	0
TPK1	27010	broad.mit.edu	37	7	144288620	144288620	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:144288620C>G	ENST00000549981.1	-	9	769	c.46G>C	c.(46-48)Gac>Cac	p.D16H	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Missense_Mutation_p.D133H|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	133					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATAATCTGGTCAAAACGCCCA	0.428000													16	44					0	0	0.006122	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615601	140615601	+	RNA	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr5:140615601C>A	ENST00000526308.1	+	0	1664					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TCGCTGCTGCCGCCCCAGGAC	0.652000													48	127					1.61863e-15	2.73854e-15	0.003610	1	0
ADAD1	132612	broad.mit.edu	37	4	123314764	123314764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:123314764G>T	ENST00000296513.2	+	6	735	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Nonsense_Mutation_p.E166*|ADAD1_ENST00000388724.2_Nonsense_Mutation_p.E184*	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	184					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCCCTGCAGAACCTGTTGT	0.328000													12	67					1.15088e-07	1.71128e-07	0.004007	1	0
SCRIB	23513	broad.mit.edu	37	8	144885846	144885846	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr8:144885846G>A	ENST00000356994.2	-	23	3391	c.3385C>T	c.(3385-3387)Ccc>Tcc	p.P1129S	SCRIB_ENST00000320476.3_Missense_Mutation_p.P1129S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P1048S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1129	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCGTCTGTGGGGTCGCGGGGG	0.706000													7	9					0	0	0.001984	0	0
NELL1	4745	broad.mit.edu	37	11	20959343	20959343	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:20959343T>A	ENST00000298925.5	+	11	1246	c.1093T>A	c.(1093-1095)Tat>Aat	p.Y365N	NELL1_ENST00000532434.1_Missense_Mutation_p.Y337N|NELL1_ENST00000325319.5_Missense_Mutation_p.Y280N|NELL1_ENST00000357134.5_Missense_Mutation_p.Y337N			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	337	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAATGTATCTATGGAGGAAA	0.418000													34	43					0	0	0.006230	0	0
GSTO2	119391	broad.mit.edu	37	10	106039209	106039209	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:106039209G>T	ENST00000338595.2	+	5	768	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	GSTO2_ENST00000450629.2_Intron|GSTO2_ENST00000369707.1_Nonsense_Mutation_p.E122*|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000429569.2_Intron|GSTO2_ENST00000401888.2_Nonsense_Mutation_p.E150*	NM_183239.1	NP_899062.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	150	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCTGCGTCAGGAATTCAGCAA	0.532000													39	11					3.66105e-37	7.16194e-37	0.007835	1	0
CDH23	64072	broad.mit.edu	37	10	73551076	73551076	+	Silent	SNP	A	A	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:73551076A>G	ENST00000224721.6	+	46	6257	c.6252A>G	c.(6250-6252)ctA>ctG	p.L2084L		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2079	Cadherin 20.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCATCTGCTAGAGAACTGCC	0.632000													7	25					0	0	0.001984	0	0
MTG1	92170	broad.mit.edu	37	10	135209735	135209735	+	Silent	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:135209735C>T	ENST00000468317.2	+	4	516	c.261C>T	c.(259-261)ctC>ctT	p.L87L	MTG1_ENST00000317502.6_Silent_p.L82L|MTG1_ENST00000477902.2_Silent_p.L41L																							TGCTGGTCCTCAACAAGATGG	0.502000													101	105					0	0	0.003610	0	0
ZZEF1	23140	broad.mit.edu	37	17	3980197	3980197	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:3980197A>C	ENST00000381638.2	-	20	3200	c.3076T>G	c.(3076-3078)Tgt>Ggt	p.C1026G	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1026							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACTGAGTTACATAATCTTTCT	0.458000													34	22					0	0	0.005524	0	0
NBAS	51594	broad.mit.edu	37	2	15555714	15555714	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:15555714C>A	ENST00000281513.5	-	25	2918	c.2893G>T	c.(2893-2895)Gac>Tac	p.D965Y	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	965										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATTTTAAGTCCCCTTTAGCT	0.383000													45	71					9.52127e-25	1.7582e-24	0.003610	1	0
CHODL	140578	broad.mit.edu	37	21	19628834	19628834	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr21:19628834G>T	ENST00000299295.2	+	2	479	c.88G>T	c.(88-90)Gtg>Ttg	p.V30L	CHODL_ENST00000400127.1_5'UTR|CHODL_ENST00000400131.1_5'UTR|CHODL_ENST00000338326.3_5'UTR|CHODL_ENST00000400128.1_5'UTR|CHODL_ENST00000400135.1_5'UTR|CHODL_ENST00000543733.1_Missense_Mutation_p.V11L	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	30					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGCCAAAAGGTGTGTTTTGC	0.423000													10	18					0.000442599	0.000594565	0.006214	1	0
SNHG14	104472715	broad.mit.edu	37	15	25225172	25225172	+	RNA	SNP	T	T	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:25225172T>A	ENST00000551631.2	+	0	165					NR_001293.1																						GCAGCCTATTTGAAGAAAACC	0.373000													3	6					0	0	0.004672	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169908	90169908	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr4:90169908C>A	ENST00000333209.3	-	2	1872	c.1354G>T	c.(1354-1356)Gct>Tct	p.A452S		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	452										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGCTTTTTAGCAGTTGACTCT	0.438000													16	38					2.23348e-06	3.22901e-06	0.004007	1	0
OR51V1	283111	broad.mit.edu	37	11	5221342	5221342	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr11:5221342C>G	ENST00000321255.1	-	1	588	c.589G>C	c.(589-591)Gcc>Ccc	p.A197P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGAACAGGCTAAGCGGAGA	0.413000													17	37					0	0	0.006122	0	0
MYBPC1	4604	broad.mit.edu	37	12	102008303	102008303	+	Missense_Mutation	SNP	C	C	A	rs149776048	byFrequency	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:102008303C>A	ENST00000549145.1	+	2	155	c.55C>A	c.(55-57)Ccg>Acg	p.P19T	MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000550501.1_3'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000392934.3_Intron|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P19T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P19T|MYBPC1_ENST00000551300.1_5'UTR			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	19					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AGCCCCACCCCCGGAAGGTGA	0.507000													8	11					1.06961e-07	1.59804e-07	0.003080	1	0
ALAS2	212	broad.mit.edu	37	X	55047577	55047577	+	Silent	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chrX:55047577A>T	ENST00000330807.5	-	5	683	c.546T>A	c.(544-546)tcT>tcA	p.S182S	ALAS2_ENST00000335854.4_Silent_p.S145S|ALAS2_ENST00000396198.3_Silent_p.S169S	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	182				S -> F (in Ref. 1; CAA39795).	cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CAGATGCCTCAGAGAAATGTT	0.512000													20	78					0	0	0.007413	0	0
NEO1	4756	broad.mit.edu	37	15	73415063	73415063	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr15:73415063G>T	ENST00000339362.5	+	4	1093	c.646G>T	c.(646-648)Ggc>Tgc	p.G216C	NEO1_ENST00000560262.1_Missense_Mutation_p.G216C|NEO1_ENST00000558964.1_Missense_Mutation_p.G216C|NEO1_ENST00000261908.6_Missense_Mutation_p.G216C			Q92859	NEO1_HUMAN	neogenin 1	216	Ig-like C2-type 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGAAGGAGATGGCGGGCTTTA	0.448000													46	19					7.05121e-23	1.27574e-22	0.002522	1	0
COL6A3	1293	broad.mit.edu	37	2	238268749	238268749	+	Silent	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:238268749C>A	ENST00000295550.4	-	17	6716	c.6264G>T	c.(6262-6264)ccG>ccT	p.P2088P	COL6A3_ENST00000347401.3_Silent_p.P1887P|COL6A3_ENST00000472056.1_Silent_p.P1481P|COL6A3_ENST00000346358.4_Silent_p.P1888P|COL6A3_ENST00000409809.1_Silent_p.P1882P|COL6A3_ENST00000353578.4_Silent_p.P1882P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2088	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTCTGGCCCGGGCAGCCCT	0.607000													10	23					5.50884e-06	7.85543e-06	0.001368	1	0
RAB27B	5874	broad.mit.edu	37	18	52546622	52546622	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr18:52546622A>T	ENST00000262094.5	+	3	697	c.176A>T	c.(175-177)aAt>aTt	p.N59I	RAB27B_ENST00000586594.1_3'UTR	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	59					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		CAAGGACCGAATGGATCTTCA	0.413000													19	15					0	0	0.002780	0	0
SMPD4	55627	broad.mit.edu	37	2	130911017	130911017	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:130911017C>T	ENST00000409031.1	-	18	3165	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	SMPD4_ENST00000453750.1_Missense_Mutation_p.E422K|SMPD4_ENST00000426662.2_Missense_Mutation_p.E309K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E644K|SMPD4_ENST00000452225.2_Missense_Mutation_p.E414K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E571K|SMPD4_ENST00000339679.7_Missense_Mutation_p.E531K|SMPD4_ENST00000443958.2_Missense_Mutation_p.E337K	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	634					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AGCTGCGCTTCGCTGAGCTGC	0.572000													6	48					0	0	0.003080	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915862	186915862	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:186915862C>A	ENST00000367466.3	+	11	1279	c.1127C>A	c.(1126-1128)aCa>aAa	p.T376K	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.T316K	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	376	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTTATGGGAACAGTCGTTAAG	0.343000													10	26					3.86212e-05	5.36072e-05	0.008291	1	0
CSMD2	114784	broad.mit.edu	37	1	34015788	34015788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:34015788delG	ENST00000373381.4	-	56	9082	c.8906delC	c.(8905-8907)ctfs	p.P2969fs		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2945	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGAGCAGTGAGGGAGGGAGCC	0.577													19	58	---	---	---	---					
EPHX1	2052	broad.mit.edu	37	1	226019484	226019485	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr1:226019484_226019485insA	ENST00000366837.4	+	3	384_385	c.188_189insA	c.(187-189)tcafs	p.S63fs	EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.S63fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	63					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTCCAGGACTTACACCAGAGGA	0.495													19	55	---	---	---	---					
ABCB11	8647	broad.mit.edu	37	2	169783822	169783840	+	Frame_Shift_Del	DEL	TGAGCGGAGGAACTGGACA	TGAGCGGAGGAACTGGACA	-	rs72549395		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr2:169783822_169783840delTGAGCGGAGGAACTGGACA	ENST00000263817.6	-	26	3568_3586	c.3444_3462delTGTCCAGTTCCTCCGCTCA	c.(3442-3462)aafs	p.NVQFLRS1148fs		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1148	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTCCAATGTTTGAGCGGAGGAACTGGACATTTACTTTTT	0.402													13	75	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	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	1179	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													4	4	---	---	---	---					
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													12	18	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27134297	27134298	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:27134297_27134298delGC	ENST00000343060.4	-	2	830_831	c.769_770delGC	c.(769-771)cfs	p.A257fs	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	257						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACCCTGCGGGCGCGCGTCAGG	0.569													19	111	---	---	---	---					
ZNF804B	219578	broad.mit.edu	37	7	88964059	88964059	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:88964059delT	ENST00000333190.4	+	4	2372	c.1763delT	c.(1762-1764)cafs	p.L588fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	588						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACACATCTCTAAAGGATTGT	0.378										HNSCC(36;0.09)			7	19	---	---	---	---					
TRBC2	28638	broad.mit.edu	37	7	142499581	142499581	+	RNA	DEL	C	C	-	rs1126990		TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr7:142499581delC	ENST00000466254.1	+	0	387																											AATGTCCTTACAAAGCAGCAT	0.453													97	344	---	---	---	---					
RP11-34D15.2	0	broad.mit.edu	37	10	102104600	102104601	+	RNA	INS	-	-	TT			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr10:102104600_102104601insTT	ENST00000429420.1	-	0	103																											AAAAATCACAAttttttttttt	0.401													4	7	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	213	---	---	---	---					
CHORDC2P	317775	broad.mit.edu	37	14	90203983	90203983	+	RNA	DEL	C	C	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr14:90203983delC	ENST00000555070.1	-	0	170																											cacccggccTCCCAGCATCCT	0.537													15	22	---	---	---	---					
NLRP1	22861	broad.mit.edu	37	17	5463043	5463043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:5463043delG	ENST00000345221.3	-	4	1527	c.973delC	c.(973-975)aafs	p.Q325fs	NLRP1_ENST00000577119.1_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.Q325fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.Q325fs	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	325					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)				CGAGGTTCTTGGGTATCCAGG	0.537													126	77	---	---	---	---					
CACNA1G	8913	broad.mit.edu	37	17	48653396	48653397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr17:48653396_48653397insC	ENST00000352832.5	+	8	2005_2006	c.1633_1634insC	c.(1633-1635)cccfs	p.P545fs	CACNA1G_ENST00000515765.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000515411.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000515165.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000513689.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514717.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000510366.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000429973.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000359106.5_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514181.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000442258.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000416767.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000503485.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000502264.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000512389.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507336.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000510115.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507609.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507510.2_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000360761.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000507896.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000505165.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000354983.4_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000513964.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000514079.1_Frame_Shift_Ins_p.P545fs|CACNA1G_ENST00000358244.5_Frame_Shift_Ins_p.P545fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	545					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCTCCGGGGCCCCCCCTGGT	0.708													2	4	---	---	---	---					
KEAP1	9817	broad.mit.edu	37	19	10600380	10600380	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7146-01A-11D-2036-08	TCGA-78-7146-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7692e684-4af2-4892-80ad-1f417b6b38fa	1b679d8a-ca71-43ee-bdfa-5b0dd9fe7f80	g.chr19:10600380delG	ENST00000171111.5	-	4	2022	c.1475delC	c.(1474-1476)cafs	p.P492fs	KEAP1_ENST00000393623.2_Frame_Shift_Del_p.P492fs	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	492					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)			GTTCCTCTCTGGGTAGTAACA	0.597													37	38	---	---	---	---					
