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
MYO16	23026	broad.mit.edu	37	13	109562362	109562362	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:109562362A>G	ENST00000356711.2	+	16	1849	c.1723A>G	c.(1723-1725)Aca>Gca	p.T575A	MYO16_ENST00000357550.2_Missense_Mutation_p.T575A|MYO16_ENST00000251041.5_Missense_Mutation_p.T575A|MYO16_ENST00000457511.2_Missense_Mutation_p.T87A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	575	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CAGAATTTATACATATTTGCT	0.323000													28	64					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825682	40825682	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40825682C>G	ENST00000293349.6	-	4	899	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.E157Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.E157Q			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	157	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CGCCTGCGCTCTGGGCCGGTC	0.672000													29	53					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66610963	66610963	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:66610963C>A	ENST00000261233.4	+	6	1022	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q140K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	201	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAAAAAAATGCAGTGTAAGAA	0.373000													98	229					6.51614e-51	7.90082e-51	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51201115	51201115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201115G>A	ENST00000293441.1	-	12	1864	c.1846C>T	c.(1846-1848)Cag>Tag	p.Q616*	SHANK1_ENST00000359082.3_Nonsense_Mutation_p.Q616*|SHANK1_ENST00000391814.1_Nonsense_Mutation_p.Q616*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	616					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGCTCTCCTGAGAGCGATTC	0.567000													9	33					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1578550	1578550	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:1578550C>G	ENST00000572621.1	-	19	3221	c.2956G>C	c.(2956-2958)Gag>Cag	p.E986Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E986Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	986						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGATCTTCTCATACATCTTC	0.517000													17	37					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71227802	71227802	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:71227802C>A	ENST00000554752.2	-	3	917	c.918G>T	c.(916-918)aaG>aaT	p.K306N	MAP3K9_ENST00000555993.2_Missense_Mutation_p.K306N|MAP3K9_ENST00000381250.4_Missense_Mutation_p.K306N|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000554146.1_Missense_Mutation_p.K43N			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	306	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CCGCACTCATCTTGGTGGTTC	0.542000													35	93					1.08052e-11	1.22585e-11	1	1	0
EPG5	57724	broad.mit.edu	37	18	43535048	43535048	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:43535048C>A	ENST00000282041.5	-	2	354	c.320G>T	c.(319-321)gGa>gTa	p.G107V		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	107					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGGCCTCTCCCCCTTCCTT	0.498000													22	63					5.35356e-11	6.03832e-11	1	1	0
SPSB3	90864	broad.mit.edu	37	16	1827827	1827827	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:1827827G>A	ENST00000566339.1	-	6	972	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SPSB3_ENST00000301717.4_Silent_p.F214F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	214	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						AGCCCTGGCCGAACCGCGATG	0.642000													3	36					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42334906	42334906	+	Missense_Mutation	SNP	C	C	T	rs121912756		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42334906C>T	ENST00000262418.6	-	13	1593	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	480	Membrane (anion exchange).		E -> K (in FR(a+) antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCGTTGGTCTCGCAGAACTGC	0.607000													20	39					0	0	1	0	0
UAP1	6675	broad.mit.edu	37	1	162558505	162558505	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:162558505C>T	ENST00000271469.3	+	7	1353	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	UAP1_ENST00000367924.1_Missense_Mutation_p.H351Y|UAP1_ENST00000367926.4_Missense_Mutation_p.H351Y|UAP1_ENST00000367925.1_Missense_Mutation_p.H351Y			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	351					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGTTGCAGCACCATGTGGC	0.373000													29	75					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50592997	50592997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:50592997G>T	ENST00000380877.3	-	6	1109	c.686C>A	c.(685-687)tCa>tAa	p.S229*	GABPB1_ENST00000359031.4_Nonsense_Mutation_p.S229*|GABPB1_ENST00000429662.2_Nonsense_Mutation_p.S241*|GABPB1_ENST00000560825.1_Nonsense_Mutation_p.S229*|GABPB1_ENST00000543881.1_Nonsense_Mutation_p.S165*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.S241*|GABPB1_ENST00000396464.3_Nonsense_Mutation_p.S229*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	241					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGGAGTTTCTGAAGAATTGGA	0.438000													16	42					1.5739e-10	1.76495e-10	1	1	0
HIST1H2BD	3017	broad.mit.edu	37	6	26158619	26158619	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26158619C>G	ENST00000289316.2	+	1	246	c.222C>G	c.(220-222)atC>atG	p.I74M	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.I74M	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TCGAGCGCATCGCAGGCGAGG	0.602000													80	168					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169345966	169345966	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:169345966G>T	ENST00000367808.3	+	3	640	c.217G>T	c.(217-219)Gca>Tca	p.A73S	BLZF1_ENST00000329281.2_Missense_Mutation_p.A73S|BLZF1_ENST00000367807.3_Missense_Mutation_p.A73S			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	73					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					CACTGAAAAAGCAATGGAAGT	0.398000													39	64					1.47244e-24	1.77425e-24	1	1	0
COL9A3	1299	broad.mit.edu	37	20	61461171	61461171	+	Splice_Site	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:61461171G>A	ENST00000343916.3	+	22	1164	c.1161_splice	c.e22+1	p.A387_splice		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	387	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGGCTCAGCGGTGAGTGCAG	0.657000													4	5					0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43269338	43269338	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43269338C>T	ENST00000372585.5	+	7	1064	c.969C>T	c.(967-969)gcC>gcT	p.A323A	SLC22A7_ENST00000372574.3_Silent_p.A321A|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A321A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	323						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GCAAAGTGGCCGCCGGGGAAC	0.582000													11	33					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205495568	205495568	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:205495568C>T	ENST00000360066.2	+	7	946	c.645C>T	c.(643-645)ctC>ctT	p.L215L	CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L215L|CDK18_ENST00000506784.1_Silent_p.L245L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	213	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						ATCGGTCCCTCACCCTGGTGT	0.592000													40	94					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50861832	50861832	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:50861832G>A	ENST00000253719.2	-	9	1449	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	414					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CTGCGCCTGCGCAGTCTCTCC	0.662000													10	21					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60766302	60766302	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:60766302C>T	ENST00000446119.2	+	5	1171	c.152C>T	c.(151-153)tCa>tTa	p.S51L	MRC2_ENST00000303375.5_Silent_p.F1105F|MRC2_ENST00000580916.1_3'UTR			Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1185	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCCATGGCTTCATCTGCCAGA	0.657000													11	22					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17017783	17017783	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:17017783G>A	ENST00000443236.1	-	30	4178	c.4147C>T	c.(4147-4149)Cgt>Tgt	p.R1383C		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1336						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCCAGGCTACGGAGCTTGCGC	0.637000													6	10					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479621	130479621	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:130479621G>C	ENST00000373289.3	+	3	280	c.200G>C	c.(199-201)aGa>aCa	p.R67T	TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	67							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCTACTCCAGAGGCCAGCAG	0.657000													7	26					0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287306	33287306	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:33287306G>A	ENST00000374542.5	-	6	1995	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	DAXX_ENST00000266000.6_Silent_p.F597F|DAXX_ENST00000414083.2_Silent_p.F522F	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	597	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGACAGTGGTGAAGGGCTCCT	0.522000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								42	75					0	0	1	0	0
IGHV2-5	28457	broad.mit.edu	37	14	106494257	106494257	+	RNA	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:106494257G>A	ENST00000390597.2	-	0	254																											GGGCTGTAGCGCTTATCATCA	0.542000													26	69					0	0	1	0	0
GORAB	92344	broad.mit.edu	37	1	170508704	170508704	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:170508704G>A	ENST00000367763.3	+	2	510	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	GORAB_ENST00000367762.1_Missense_Mutation_p.E164K|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	164						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAGAAAGTGGAATTGTTAGT	0.353000													13	35					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28980884	28980884	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:28980884G>C	ENST00000359747.4	+	10	1347	c.1318G>C	c.(1318-1320)Gat>Cat	p.D440H	RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.D440H|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	440	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTTAAAAATTGATTCAAGAAC	0.308000													23	42					0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:52497170G>C	ENST00000602063.1	-	6	1508	c.1159C>G	c.(1159-1161)Ctt>Gtt	p.L387V	ZNF615_ENST00000391795.3_Missense_Mutation_p.L392V|ZNF615_ENST00000594083.1_Missense_Mutation_p.L398V|ZNF615_ENST00000598071.1_Missense_Mutation_p.L398V|ZNF615_ENST00000376716.5_Missense_Mutation_p.L387V			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398000													16	45					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431791	135431791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:135431791G>T	ENST00000394143.1	+	6	6217	c.5926G>T	c.(5926-5928)Gag>Tag	p.E1976*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.E1913*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.E1771*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E1976*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCACACATTTGAGAAAATGAC	0.428000													41	16					3.09479e-21	3.68337e-21	1	1	0
SH2D5	400745	broad.mit.edu	37	1	21048305	21048305	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:21048305C>T	ENST00000375031.1	-	9	1624	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.E418K	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	334										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCTGCAGCTCTGCCTCGGAC	0.731000													4	9					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47104856	47104856	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:47104856G>A	ENST00000377107.2	+	17	2599	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	USP11_ENST00000218348.3_Missense_Mutation_p.E792K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	792					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CACCACTGTGGAGACCCTGGA	0.532000													9	16					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103128364	103128364	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:103128364G>A	ENST00000375735.2	+	69	10633	c.10489G>A	c.(10489-10491)Gag>Aag	p.E3497K	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E3504K|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3497					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)		CCCCCTGGCTGAGAGTGCCAG	0.438000													9	25					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59282176	59282176	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:59282176G>A	ENST00000320743.3	-	7	1168	c.882C>T	c.(880-882)ctC>ctT	p.L294L	LRIG3_ENST00000379141.4_Silent_p.L234L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	294						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTTTGGCTGAGATGAAGTT	0.463000			T	ROS1	NSCLC								16	43					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149314	34149314	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chrX:34149314C>T	ENST00000346193.3	-	1	1133	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	361								p.R361H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TAGGCGGAGACGGGACACTCC	0.647000													26	19					0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868570	22868570	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:22868570G>C	ENST00000302097.3	-	2	1637	c.1385C>G	c.(1384-1386)aCg>aGg	p.T462R		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T462M(1)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTCCTTCAACGTCAAAAACTG	0.423000													35	27					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7717315	7717315	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:7717315G>T	ENST00000338316.4	+	12	1757	c.1668G>T	c.(1666-1668)agG>agT	p.R556S	ADCY2_ENST00000537121.1_Missense_Mutation_p.R376S|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGAATGAAAGGATGATTCAAG	0.269000													13	44					3.27435e-08	3.58884e-08	1	1	0
FAT1	2195	broad.mit.edu	37	4	187542225	187542225	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:187542225C>A	ENST00000441802.2	-	10	5724	c.5515G>T	c.(5515-5517)Gaa>Taa	p.E1839*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1839	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATACTTGTTTCTTCATAGTCC	0.373000										HNSCC(5;0.00058)			12	11					2.27111e-07	2.44775e-07	1	1	0
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587000													5	214					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120980009	120980009	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:120980009C>T	ENST00000392793.1	+	4	559	c.288C>T	c.(286-288)gtC>gtT	p.V96V	TECTA_ENST00000264037.2_Silent_p.V96V			O75443	TECTA_HUMAN	tectorin alpha	96					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGCCTTCGTCGCCCCATTTT	0.488000													9	35					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44106836	44106836	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:44106836T>G	ENST00000267812.3	-	4	712	c.480A>C	c.(478-480)aaA>aaC	p.K160N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	160						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTCTTCATTTTTTCTCTCCT	0.458000													63	59					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381740	156381740	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156381740G>A	ENST00000274532.2	-	2	142	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TIMD4_ENST00000407087.3_Missense_Mutation_p.T29M	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	29	Ig-like V-type.					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)			CAAAACCTCCGTCACAACAGT	0.493000													13	37					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43143452	43143452	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143452G>A	ENST00000265354.4	+	3	1147	c.789G>A	c.(787-789)ctG>ctA	p.L263L	SRF_ENST00000457278.2_Silent_p.L59L	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	263					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			AGGACACACTGAAGCCGGCGT	0.547000													51	123					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57550690	57550690	+	Silent	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:57550690G>C	ENST00000243077.3	+	10	2014	c.1548G>C	c.(1546-1548)ggG>ggC	p.G516G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	516	EGF-like 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCAGTGACGGGAAGTCATGCA	0.657000													12	29					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180377338	180377338	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:180377338G>C	ENST00000273654.4	-	12	1511	c.892C>G	c.(892-894)Cgt>Ggt	p.R298G	CCDC39_ENST00000442201.2_Missense_Mutation_p.R214G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	214					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.R298C(1)|p.R214C(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TGAATCTTACGAAAATCTTGT	0.348000													11	60					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26205145	26205145	+	Silent	SNP	G	G	A	rs143252055	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26205145G>A	ENST00000360441.4	+	1	288	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	91					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCTACGCGCTGAAGAGACAGG	0.527000													16	50					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207026158	207026158	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:207026158G>T	ENST00000392222.2	+	3	667	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	EEF1B2_ENST00000236957.5_Missense_Mutation_p.D98Y|EEF1B2_ENST00000392221.1_Missense_Mutation_p.D98Y	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	98						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TAGTAAAGATGATGATGACAT	0.468000													32	52					1.56442e-22	1.87344e-22	1	1	0
MRPL53	116540	broad.mit.edu	37	2	74699249	74699249	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:74699249G>A	ENST00000258105.7	-	3	997	c.336C>T	c.(334-336)cgC>cgT	p.R112R	MRPL53_ENST00000409710.1_3'UTR	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	112						mitochondrion|ribosome				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						GGCGCTGTCAGCGACCAGTAT	0.547000													25	105					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896836	175896836	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:175896836T>A	ENST00000359240.3	+	5	830	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	ADAM29_ENST00000404450.4_Missense_Mutation_p.Y54N|ADAM29_ENST00000445694.1_Missense_Mutation_p.Y54N|ADAM29_ENST00000514159.1_Missense_Mutation_p.Y54N	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	54					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGGCTCTCCTATATCCTGCC	0.522000													15	27					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156760406	156760406	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:156760406G>A	ENST00000347377.6	+	21	2768	c.2337G>A	c.(2335-2337)ttG>ttA	p.L779L	CYFIP2_ENST00000318218.6_Silent_p.L804L|CYFIP2_ENST00000541131.1_Silent_p.L704L|CYFIP2_ENST00000442283.2_Silent_p.L64L|CYFIP2_ENST00000435847.2_Silent_p.L478L|CYFIP2_ENST00000522463.1_Silent_p.L583L|CYFIP2_ENST00000377576.3_Silent_p.L779L|CYFIP2_ENST00000521420.1_Silent_p.L753L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	804					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATAAATCCTTGGACCAAGCTA	0.478000													72	222					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240990401	240990401	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:240990401C>T	ENST00000366565.1	-	10	1062	c.681G>A	c.(679-681)cgG>cgA	p.R227R	RGS7_ENST00000407727.1_Silent_p.R227R|RGS7_ENST00000331110.7_Silent_p.R201R|RGS7_ENST00000401882.1_Silent_p.R174R|RGS7_ENST00000446183.2_Silent_p.R143R|RGS7_ENST00000366562.4_Silent_p.R227R|RGS7_ENST00000366563.1_Silent_p.R227R|RGS7_ENST00000348120.2_Silent_p.R174R|RGS7_ENST00000366564.1_Silent_p.R227R	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	227					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTTTTACCTTCCGTGTTTTGT	0.408000													15	36					0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26492304	26492304	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:26492304C>T	ENST00000311151.5	+	8	1111	c.699C>T	c.(697-699)gcC>gcT	p.A233A	DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Silent_p.A197A|DPYSL2_ENST00000523027.1_Silent_p.A197A	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	233					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCGAGGCCGAAGCCGTGA	0.567000													33	67					0	0	1	0	0
CCDC174	51244	broad.mit.edu	37	3	14708357	14708357	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:14708357G>C	ENST00000383794.3	+	7	700	c.627G>C	c.(625-627)atG>atC	p.M209I	CCDC174_ENST00000303688.7_Missense_Mutation_p.M209I	NM_016474.4	NP_057558.3			coiled-coil domain containing 174																		CTGAAGATATGAGAAAAGAAC	0.413000													37	59					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134660573	134660573	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:134660573C>T	ENST00000368586.5	-	43	6230	c.6130G>A	c.(6130-6132)Gag>Aag	p.E2044K	TTC40_ENST00000263170.5_Missense_Mutation_p.E205K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	205										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGCAGCACCTCTGACGCCTGA	0.672000													23	25					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6672621	6672621	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672621G>A	ENST00000541778.1	-	8	1224	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L	NOP2_ENST00000322166.5_Silent_p.L250L|NOP2_ENST00000399466.2_Silent_p.L246L|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Silent_p.L283L|NOP2_ENST00000545200.1_Silent_p.L246L|NOP2_ENST00000537442.1_Silent_p.L250L			P46087	NOP2_HUMAN	NOP2 nucleolar protein	250					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATCACGCAGAATTCCCACA	0.527000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	1	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444495	81444495	+	RNA	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:81444495C>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							CCCCTATTCCCCAAGCTCTTC	0.607000													4	10					1	1	1	1	0
DLX5	1749	broad.mit.edu	37	7	96651680	96651680	+	Splice_Site	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:96651680C>T	ENST00000222598.4	-	2	830	c.355_splice	c.e2-1	p.E119_splice	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Splice_Site_p.E119_splice	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	119					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TCACTTCTTTCTCTAAATAAT	0.448000													17	44					0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333245	27333245	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:27333245C>T	ENST00000405846.3	-	2	941	c.720G>A	c.(718-720)acG>acA	p.T240T	GPR12_ENST00000381436.2_Silent_p.T240T	NM_005288.3	NP_005279.1	P47775	GPR12_HUMAN	G protein-coupled receptor 12	240						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CATAGTGCGACGTGGCCAGGA	0.537000													15	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7573984	7573984	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7573984A>G	ENST00000269305.4	-	10	1232	c.1043T>C	c.(1042-1044)tTg>tCg	p.L348S	TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.L348S|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	348	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		L -> F (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; 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.0?(8)|p.L348*(2)|p.I332fs*5(1)|p.?(1)|p.L348fs*1(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)		CTTGAGTTCCAAGGCCTCATT	0.592000		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)			10	36					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917336	40917336	+	Missense_Mutation	SNP	A	A	G	rs144727202	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40917336A>G	ENST00000346991.5	+	11	5342	c.4952A>G	c.(4951-4953)aAg>aGg	p.K1651R	CASC5_ENST00000399668.2_Missense_Mutation_p.K1625R			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1651					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GAAAATAAAAAGTCTCATAAT	0.358000													36	87					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46656406	46656406	+	Silent	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:46656406G>C	ENST00000371992.1	-	18	2240	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000371984.3_Silent_p.L530L|POMGNT1_ENST00000371986.3_Silent_p.L530L|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000535522.1_Silent_p.L508L	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	530					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CCACATTCCTGAGCTGGACAC	0.552000													32	56					0	0	1	0	0
SRF	6722	broad.mit.edu	37	6	43143635	43143635	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:43143635G>C	ENST00000265354.4	+	3	1330	c.972G>C	c.(970-972)aaG>aaC	p.K324N	SRF_ENST00000457278.2_Missense_Mutation_p.K120N	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	324					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGTGCTGAAGAGTACAGGCA	0.607000													25	76					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790136	207790136	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:207790136C>G	ENST00000367049.4	+	41	6878	c.6878C>G	c.(6877-6879)tCt>tGt	p.S2293C	CR1_ENST00000367053.1_Missense_Mutation_p.S1843C|CR1_ENST00000367051.1_Missense_Mutation_p.S1843C|CR1_ENST00000367052.1_Missense_Mutation_p.S1843C|CR1_ENST00000400960.2_Missense_Mutation_p.S1843C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1843					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGTGAACTTTCTGTTCCTGCT	0.488000													35	89					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77650977	77650977	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:77650977C>A	ENST00000407578.2	-	68	11998	c.11732G>T	c.(11731-11733)gGa>gTa	p.G3911V	MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000596342.1_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G3873V|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GATGAGCTTTCCAAATACCTG	0.378000													12	26					0.00185496	0.00188409	1	1	0
MSH3	4437	broad.mit.edu	37	5	79965953	79965953	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:79965953C>G	ENST00000265081.6	+	4	697	c.617C>G	c.(616-618)tCa>tGa	p.S206*		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	206	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTTGGATCATCAAATACAAGT	0.338000								Mismatch excision repair (MMR)					4	21					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098196	56098196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:56098196C>A	ENST00000426658.2	-	2	1343	c.682G>T	c.(682-684)Gag>Tag	p.E228*	CTCFL_ENST00000371196.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000539382.1_Nonsense_Mutation_p.E23*|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.E228*|CTCFL_ENST00000422109.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000433949.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000429804.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000423479.2_Nonsense_Mutation_p.E228*|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.E228*			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	228					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTGATCCTCTTGTTCTTCC	0.388000													32	49					1.30897e-18	1.52976e-18	1	1	0
CDCA7L	55536	broad.mit.edu	37	7	21948040	21948040	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:21948040G>A	ENST00000406877.3	-	4	668	c.389C>T	c.(388-390)cCt>cTt	p.P130L	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_Missense_Mutation_p.P96L|CDCA7L_ENST00000373934.4_Missense_Mutation_p.P84L	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	130					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCTTCTTCTAGGGGTAGCCTT	0.438000													18	77					0	0	1	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77324641	77324641	+	Silent	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:77324641C>G	ENST00000558012.1	+	11	1233	c.744C>G	c.(742-744)ctC>ctG	p.L248L	PSTPIP1_ENST00000559295.1_Silent_p.L248L|PSTPIP1_ENST00000379595.3_Silent_p.L248L|PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000267939.5_Silent_p.L247L	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	248					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCCCAGCTCTACGAGGAAG	0.667000													8	59					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112699209	112699209	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:112699209G>A	ENST00000550722.1	-	18	2730	c.2335C>T	c.(2335-2337)Ctt>Ttt	p.L779F	HECTD4_ENST00000430131.2_Missense_Mutation_p.L493F|HECTD4_ENST00000377560.5_Missense_Mutation_p.L743F	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGGTGGCAAGAGCCAAAATA	0.403000													15	42					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013516	73013516	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:73013516G>A	ENST00000308744.6	+	4	1654	c.1556G>A	c.(1555-1557)aGc>aAc	p.S519N	NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Missense_Mutation_p.S420N|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.S417N	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	519					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACTACTAACAGCAGTGAGATT	0.338000													22	26					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1268756	1268756	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:1268756G>A	ENST00000447027.1	+	31	10713	c.10655G>A	c.(10654-10656)cGc>cAc	p.R3552H	MUC5B_ENST00000529681.1_Missense_Mutation_p.R3549H|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3549	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCAAGACCCGCACCTCGACC	0.687000													4	164					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628301	29628301	+	Silent	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:29628301T>C	ENST00000278882.3	+	6	683	c.303T>C	c.(301-303)agT>agC	p.S101S	FRG1B_ENST00000358464.4_Silent_p.S101S|FRG1B_ENST00000439954.2_Silent_p.S106S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAGCAAAAAGTAAAACAGCAG	0.353000													5	73					0	0	1	0	0
LRRN4	164312	broad.mit.edu	37	20	6031435	6031435	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr20:6031435G>A	ENST00000378858.4	-	3	1074	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	284						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TTCTGGAACAGAAGGACCTGT	0.458000													38	94					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48438681	48438681	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:48438681C>T	ENST00000224605.2	-	1	295	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	10					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GCCCGGGTCCCGGGCTGGTCC	0.721000													10	15					0	0	1	0	0
CHN1	1123	broad.mit.edu	37	2	175689193	175689193	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:175689193C>A	ENST00000409900.3	-	8	994	c.681G>T	c.(679-681)tgG>tgT	p.W227C	CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409597.1_Missense_Mutation_p.W43C|CHN1_ENST00000295497.7_Missense_Mutation_p.W102C|CHN1_ENST00000409156.3_Missense_Mutation_p.W201C	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	227					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)			CAATGAGACCCCACATAAAGT	0.463000			T	TAF15	extraskeletal myxoid chondrosarcoma								7	11					0.000274275	0.000284542	1	1	0
ZNF586	54807	broad.mit.edu	37	19	58290907	58290907	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:58290907G>A	ENST00000391702.3	+	4	1190	c.823G>A	c.(823-825)Gag>Aag	p.E275K	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000396154.2_Missense_Mutation_p.E318K	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAAAGGCATGAGTGCGGGCA	0.453000													29	48					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	48					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223436724	223436724	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:223436724C>T	ENST00000281828.6	-	17	1899	c.1636G>A	c.(1636-1638)Ggg>Agg	p.G546R	FARSB_ENST00000536361.1_Missense_Mutation_p.G447R	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	546					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GCACATCGCCCGGGGAAGAAA	0.468000													14	25					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929934	121929934	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:121929934A>T	ENST00000265922.3	-	8	2175	c.1714T>A	c.(1714-1716)Tcg>Acg	p.S572T	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		572					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGCCCTCCGAATGGCTCCCG	0.562000													29	46					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179143227	179143227	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:179143227C>T	ENST00000247461.4	+	8	1043	c.843C>T	c.(841-843)gaC>gaT	p.D281D	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000452673.2_Silent_p.D281D|CANX_ENST00000504734.1_Silent_p.D281D|CANX_ENST00000512607.2_Silent_p.D173D|CANX_ENST00000415618.2_Silent_p.D316D	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	281	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCAGAAGACCGGAAGCCCG	0.463000													14	53					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133925400	133925400	+	Missense_Mutation	SNP	G	G	A	rs146594373		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:133925400G>A	ENST00000220616.4	+	20	4308	c.4268G>A	c.(4267-4269)cGc>cAc	p.R1423H	TG_ENST00000377869.1_Missense_Mutation_p.R1423H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1423					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R1423H(1)|p.R1423L(1)		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)		GAAACCATCCGCTTCCTCCAA	0.557000													18	40					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30500249	30500249	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:30500249G>C	ENST00000392271.1	+	8	1321	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	URI1_ENST00000360605.4_Missense_Mutation_p.E324Q|URI1_ENST00000312051.6_Missense_Mutation_p.E302Q|URI1_ENST00000542441.2_Missense_Mutation_p.E342Q	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	342					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										ACATACTGTTGAGCCTAAGAG	0.323000													5	14					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66233087	66233087	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:66233087G>T	ENST00000273854.3	-	10	2512	c.1912C>A	c.(1912-1914)Cat>Aat	p.H638N	EPHA5_ENST00000511294.1_Missense_Mutation_p.H639N|EPHA5_ENST00000354839.4_Missense_Mutation_p.H616N|EPHA5_ENST00000432638.2_Missense_Mutation_p.H475N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	638					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.H638N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCCCATTATGAAAATGCATC	0.338000										TSP Lung(17;0.13)			10	20					0.000673444	0.00069126	1	1	0
CDC42EP4	23580	broad.mit.edu	37	17	71282441	71282441	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:71282441C>T	ENST00000335793.3	-	2	593	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	67					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GAGGGCTGTTCGTCCAAGGAC	0.642000													32	74					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123540631	123540631	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:123540631G>A	ENST00000373926.3	-	4	870	c.683C>T	c.(682-684)gCg>gTg	p.A228V	FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	228					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CAACCCACCCGCCCCCGTGTG	0.488000													6	28					0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161954039	161954039	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:161954039G>A	ENST00000294794.3	-	8	2102	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	OLFML2B_ENST00000367938.1_Missense_Mutation_p.P43L|OLFML2B_ENST00000367940.2_Missense_Mutation_p.P561L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	560	Olfactomedin-like.									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)			CCAGCTGTACGGGAGCTTGTA	0.572000													34	65					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6672578	6672578	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:6672578G>A	ENST00000541778.1	-	8	1267	c.779C>T	c.(778-780)tCt>tTt	p.S260F	NOP2_ENST00000322166.5_Missense_Mutation_p.S264F|NOP2_ENST00000399466.2_Missense_Mutation_p.S260F|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.S297F|NOP2_ENST00000545200.1_Missense_Mutation_p.S260F|NOP2_ENST00000537442.1_Missense_Mutation_p.S264F			P46087	NOP2_HUMAN	NOP2 nucleolar protein	264					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGGTATTCAGAACGAGACCG	0.542000											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	7					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30825451	30825451	+	Missense_Mutation	SNP	C	C	T	rs111491161		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:30825451C>T	ENST00000265299.6	+	4	583	c.506C>T	c.(505-507)cCg>cTg	p.P169L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	169								p.P169L(1)|p.P169Q(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACGGTCCCGGGTGAAACT	0.473000													30	140					0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184182526	184182526	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:184182526G>A	ENST00000403733.3	+	11	1949	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	WWC2_ENST00000378925.3_Missense_Mutation_p.D486N|WWC2_ENST00000513834.1_Missense_Mutation_p.D584N|WWC2_ENST00000448232.2_Missense_Mutation_p.D584N|WWC2_ENST00000504005.1_Missense_Mutation_p.D266N	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	584										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTCACTGCTGACTTTGAAGA	0.483000													6	16					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75923344	75923344	+	Missense_Mutation	SNP	G	G	C	rs143220834	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:75923344G>C	ENST00000377636.3	-	5	1716	c.1370C>G	c.(1369-1371)cCg>cGg	p.P457R	TBC1D4_ENST00000377625.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P457R|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	457	PID 2.					cytoplasm	Rab GTPase activator activity	p.P457R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGAGTGCATCGGGCAGGCCTC	0.478000													15	39					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27121446	27121446	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:27121446C>G	ENST00000374145.1	+	3	1603	c.921C>G	c.(919-921)atC>atG	p.I307M	PIGV_ENST00000449950.2_Missense_Mutation_p.I79M|PIGV_ENST00000078527.4_Missense_Mutation_p.I307M	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	307					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ACAGCTATATCCAGGATGTCT	0.478000													83	212					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51359642	51359642	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51359642C>A	ENST00000360617.3	+	2	193	c.193C>A	c.(193-195)Cac>Aac	p.H65N	KLK3_ENST00000597483.1_Missense_Mutation_p.H65N|KLK3_ENST00000593997.1_Missense_Mutation_p.H65N|KLK3_ENST00000326003.2_Missense_Mutation_p.H65N|KLK3_ENST00000595952.1_Missense_Mutation_p.H65N			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	65	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACAGCTGCCCACTGCATCAG	0.612000													30	86					3.65163e-15	4.16715e-15	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2																						CTCTTGTACTAGAAACAGACC	0.552000													6	39					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73039678	73039678	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:73039678G>A	ENST00000335350.6	+	2	596	c.180G>A	c.(178-180)gtG>gtA	p.V60V	UNC5B_ENST00000373192.4_Silent_p.V60V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	60	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCTACATTGTGAAGAACAAGC	0.622000													41	88					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:124413189C>T	ENST00000306842.2	-	1	386	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502000													23	51					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568329	7568329	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:7568329C>A	ENST00000340209.4	+	2	520	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q90K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.Q106K|RBFOX1_ENST00000422070.4_Missense_Mutation_p.Q113K|RBFOX1_ENST00000550418.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q90K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.Q70K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.Q90K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.Q106K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.Q113K			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	70					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCTCCCGCCCAGACGCACTC	0.642000													50	154					3.88204e-17	4.48283e-17	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10600019	10600019	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:10600019G>C	ENST00000171111.5	-	5	2104	c.1557C>G	c.(1555-1557)atC>atG	p.I519M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I519M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	519					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)			CAGCAGCATAGATACAGTTGT	0.577000													9	42					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51741298	51741298	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:51741298C>T	ENST00000251076.5	-	43	9281	c.8994G>A	c.(8992-8994)atG>atA	p.M2998I	DMXL2_ENST00000449909.3_Missense_Mutation_p.M2362I|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.M2999I	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2998						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGTCAATCTGCATGACTCCAG	0.458000													22	99					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31729648	31729648	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:31729648C>T	ENST00000493662.2	+	23	2342	c.2286C>T	c.(2284-2286)tgC>tgT	p.C762C	MSH5_ENST00000431848.2_Silent_p.C444C|MSH5_ENST00000375755.3_Silent_p.C745C|MSH5_ENST00000375740.3_Intron|MSH5_ENST00000395853.1_Silent_p.C419C|MSH5_ENST00000375742.3_Silent_p.C762C|MSH5_ENST00000375750.3_Silent_p.C745C|MSH5_ENST00000375703.3_Silent_p.C746C|MSH5_ENST00000534153.4_Silent_p.C762C|MSH5-SAPCD1_ENST00000491552.1_Intron																							ATCAGGTTTGCGAAGGTGTTG	0.507000													51	89					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66479369	66479369	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:66479369G>T	ENST00000359626.5	+	5	555	c.391G>T	c.(391-393)Gtc>Ttc	p.V131F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	131	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TAGTAAAAATGTCTGTGTCTT	0.383000													12	53					0.00136819	0.001397	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54797556	54797556	+	Silent	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:54797556T>C	ENST00000293379.4	-	17	1890	c.1629A>G	c.(1627-1629)acA>acG	p.T543T	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	543					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTCCACTGTGAAACCTG	0.557000													28	62					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110422190	110422190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr8:110422190G>T	ENST00000378402.5	+	19	2172	c.2068G>T	c.(2068-2070)Gaa>Taa	p.E690*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	690					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGAGACTATGAAACTGATTT	0.294000										HNSCC(38;0.096)			5	6					0.000602214	0.000621434	1	1	0
DND1	373863	broad.mit.edu	37	5	140052314	140052314	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140052314G>A	ENST00000542735.1	-	3	363	c.320C>T	c.(319-321)tCg>tTg	p.S107L		NM_194249.2	NP_919225.1	Q8IYX4	DND1_HUMAN	DND microRNA-mediated repression inhibitor 1	107	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGCCTCGAGCTGTAGCG	0.687000													8	17					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193039614	193039614	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:193039614C>A	ENST00000342358.4	-	16	1888	c.1771G>T	c.(1771-1773)Gcc>Tcc	p.A591S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	591					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGATGATGGCTTCCACTGGA	0.473000													34	52					9.8876e-21	1.16963e-20	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42117612	42117612	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:42117612G>A	ENST00000457542.2	+	31	4791	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225Q|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385Q|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341Q|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508Q	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCGTGGAACGGCGTATGGAA	0.592000													19	28					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197305	26197305	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:26197305C>T	ENST00000377831.5	-	2	627	c.174G>A	c.(172-174)tcG>tcA	p.S58S	HIST1H3D_ENST00000356476.2_Silent_p.S58S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCAGCTCGGTCGACTTCTGGT	0.627000													42	82					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222935	115222935	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:115222935C>A	ENST00000369538.3	-	5	846	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	AMPD1_ENST00000353928.6_Missense_Mutation_p.D238Y|AMPD1_ENST00000520113.2_Missense_Mutation_p.D271Y	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	238					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AAGAAGGTGTCCAGATTTGGG	0.408000													28	51					3.80469e-20	4.4734e-20	1	1	0
OR10H1	26539	broad.mit.edu	37	19	15918304	15918304	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:15918304G>A	ENST00000334920.2	-	1	632	c.544C>T	c.(544-546)Cca>Tca	p.P182S		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AACAGAGGTGGCACATGGCAA	0.577000													22	70					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573021	64573021	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:64573021G>A	ENST00000242480.3	-	2	1702	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	EGR2_ENST00000411732.1_Silent_p.S409S|EGR2_ENST00000439032.1_Silent_p.S459S	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	459					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGCCAAGACTGCTGCTGTTAC	0.657000													42	93					0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249421	7249421	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7249421C>G	ENST00000266542.4	-	6	1122	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	344	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGCTGCAGCTCCAGGAGGGCG	0.612000													29	59					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335044	42335044	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:42335044C>T	ENST00000262418.6	-	12	1569	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	472	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AAGGCTTCCTCAAACACCAGC	0.612000													18	19					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363221	79363221	+	RNA	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:79363221G>C	ENST00000444841.1	-	0	1117																											GGAAGGGCCAGAACAGGGGCA	0.483000													8	19					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143985	11143985	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:11143985G>A	ENST00000358026.2	+	26	3850	c.3566G>A	c.(3565-3567)cGa>cAa	p.R1189Q	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189Q|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189Q	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1189Q(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGCAGGACCGAGCCCACCGC	0.612000			"""F, N, Mis"""		NSCLC								43	70					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904082	129904082	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:129904082C>G	ENST00000368654.3	-	13	6397	c.6022G>C	c.(6022-6024)Gtg>Ctg	p.V2008L	MKI67_ENST00000368653.3_Missense_Mutation_p.V1648L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2008	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTTTCACACCTACTTTC	0.493000													83	199					0	0	1	0	0
TAS2R8	50836	broad.mit.edu	37	12	10959134	10959134	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:10959134G>T	ENST00000240615.2	-	1	758	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	149					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTACTATTGCTGCTATAAG	0.398000													15	37					4.7546e-09	5.27082e-09	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25457036	25457036	+	RNA	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:25457036G>C	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACCTAGGTGAGAAATTTGGAG	0.512000													65	215					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28090877	28090877	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:28090877C>T	ENST00000263181.6	-	11	1809	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	507					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTAGTATTCTCATCAAATTGC	0.403000													11	33					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003273	170003273	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:170003273C>G	ENST00000263816.3	-	69	13072	c.12787G>C	c.(12787-12789)Gat>Cat	p.D4263H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4263					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTCCTATCAGTCCCATCA	0.333000													19	64					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66326839	66326839	+	RNA	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:66326839C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CACATTGCCGCGCTGGCCCAG	0.736000													8	17					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368958	64368958	+	Splice_Site	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:64368958A>T	ENST00000377574.1	+	10	2345		c.e10-1		SLC22A12_ENST00000473690.1_Splice_Site|SLC22A12_ENST00000377572.1_Splice_Site|SLC22A12_ENST00000336464.7_Splice_Site|SLC22A12_ENST00000377567.2_Splice_Site	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTTCCTGAACAGGGCAGTAAA	0.587000													4	20					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79427630	79427630	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:79427630C>T	ENST00000307745.7	+	29	6100	c.6100C>T	c.(6100-6102)Ccg>Tcg	p.P2034S																								TGAGGCACCCCCGCCTAGTGA	0.592000													6	13					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17779326	17779326	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr6:17779326G>A	ENST00000378814.5	-	32	3904	c.3905C>T	c.(3904-3906)aCt>aTt	p.T1302I	KIF13A_ENST00000378826.2_Missense_Mutation_p.T1315I|KIF13A_ENST00000378816.5_Missense_Mutation_p.T1315I|KIF13A_ENST00000259711.6_Missense_Mutation_p.T1315I|KIF13A_ENST00000378843.2_Missense_Mutation_p.T1302I	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1315					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TATCTCCTCAGTTGCCTACGA	0.473000													9	18					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73296482	73296482	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:73296482G>A	ENST00000377110.2	-	9	1528	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRPM3_ENST00000377111.2_Missense_Mutation_p.R429W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R301W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R301W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R276W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R301W|TRPM3_ENST00000396280.5_Missense_Mutation_p.R276W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R456W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R276W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R301W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R276W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R431W	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	454						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATCCCATCCGAAATACCGTA	0.393000													11	43					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													5	197					1.23904e-05	1.31352e-05	1	1	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087943	2087943	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:2087943G>C	ENST00000424542.2	+	7	1110	c.972G>C	c.(970-972)caG>caC	p.Q324H	SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.Q218H|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.Q213H|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.Q313H	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	324					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GCGCGCCACAGATGGACTGGA	0.642000													8	27					0	0	1	0	0
GRK5	2869	broad.mit.edu	37	10	121086086	121086086	+	Silent	SNP	T	T	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121086086T>A	ENST00000392870.2	+	2	440	c.111T>A	c.(109-111)ccT>ccA	p.P37P		NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	37	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAAGTTCCCTCACATTAGCC	0.562000													14	29					0	0	1	0	0
MRPL22	29093	broad.mit.edu	37	5	154330430	154330430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:154330430C>T	ENST00000523037.1	+	3	168	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MRPL22_ENST00000522038.1_Nonsense_Mutation_p.R49*|MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Nonsense_Mutation_p.R69*	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22	43					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGACATTTCTCGAAAATGGGA	0.393000													15	37					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170715727	170715727	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:170715727C>T	ENST00000314251.3	-	11	1619	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	SLC2A2_ENST00000382808.4_Missense_Mutation_p.E395K	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	514					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			AATTTCATTTCTACAGCAGCT	0.378000													22	105					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41988704	41988704	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:41988704C>A	ENST00000219905.7	+	3	1677	c.1496C>A	c.(1495-1497)tCt>tAt	p.S499Y	MGA_ENST00000570161.1_Missense_Mutation_p.S499Y|MGA_ENST00000566586.1_Missense_Mutation_p.S499Y|MGA_ENST00000389936.4_Missense_Mutation_p.S499Y|MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.S499Y	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	499						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGGATAAATCTTCTATGTTG	0.408000													17	70					0.00741294	0.00745135	1	1	0
SMYD1	150572	broad.mit.edu	37	2	88367419	88367419	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:88367419C>G	ENST00000419482.2	+	1	121	c.36C>G	c.(34-36)ttC>ttG	p.F12L	SMYD1_ENST00000444564.2_Missense_Mutation_p.F12L|SMYD1_ENST00000438570.1_Missense_Mutation_p.F12L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGGAGGTCTTCACCGCTGAGG	0.512000													80	242					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509073	71509073	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:71509073G>A	ENST00000396073.3	+	9	2211	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	644					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAATACCCCAGACCAGAAGGA	0.438000													43	126					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833298	11833298	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:11833298C>A	ENST00000262442.3	+	63	12061	c.11993C>A	c.(11992-11994)cCt>cAt	p.P3998H	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.P310H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3998	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCACCCTCCCCTGAGGGCCAC	0.602000													13	27					0.00010058	0.000105473	1	1	0
GIMAP2	26157	broad.mit.edu	37	7	150389761	150389761	+	Silent	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:150389761G>A	ENST00000223293.5	+	3	481	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	129						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACAGAGGGTGAAGGAGATCT	0.552000													21	34					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183273362	183273362	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:183273362G>C	ENST00000341319.3	-	1	115	c.80C>G	c.(79-81)tCt>tGt	p.S27C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	27										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTCATCTGTAGAAGGTGCCAG	0.522000													46	196					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419270	37419270	+	Silent	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:37419270G>T	ENST00000374660.1	+	3	405	c.306G>T	c.(304-306)ctG>ctT	p.L102L	ANKRD30A_ENST00000602533.1_Silent_p.L102L|ANKRD30A_ENST00000361713.1_Silent_p.L102L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	158						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGGCAAAACTGCTGTCCCATG	0.378000													14	36					7.93312e-07	8.45618e-07	1	1	0
THOC6	79228	broad.mit.edu	37	16	3076099	3076099	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr16:3076099G>A	ENST00000326266.8	+	4	552	c.256G>A	c.(256-258)Gat>Aat	p.D86N	THOC6_ENST00000574549.1_Missense_Mutation_p.D62N|THOC6_ENST00000253952.9_Missense_Mutation_p.D86N|THOC6_ENST00000575576.1_Missense_Mutation_p.D62N	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	86					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GGTTTCCACCGATCGACATCT	0.557000													66	139					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620989	41620989	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr22:41620989G>C	ENST00000216237.5	+	11	1428	c.1270G>C	c.(1270-1272)Gaa>Caa	p.E424Q		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	424					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCTACACAGAAGGCGGTTG	0.592000													30	41					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121411304	121411304	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr10:121411304C>T	ENST00000369085.3	+	1	423	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	39	WW 1.				anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGCCCTTCTTCGTGGACCACA	0.706000													16	28					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980260	75980260	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:75980260G>A	ENST00000308508.5	-	3	3238	c.3146C>T	c.(3145-3147)tCg>tTg	p.S1049L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1049	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGCAAAGCCCGAGTCAGCATC	0.647000													39	105					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49059980	49059980	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:49059980G>A	ENST00000262013.7	-	25	3350	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	SPAG9_ENST00000510283.1_Missense_Mutation_p.H891Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.H1038Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.H1034Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1048					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CGGATGGAATGATGAGGCCGT	0.413000													4	106					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70645094	70645094	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:70645094C>T	ENST00000542342.2	-	9	886	c.798G>A	c.(796-798)ggG>ggA	p.G266G	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.G259G	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	266					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGCTCAGCTGCCCATACCTAA	0.622000													7	14					0	0	1	0	0
SNX10	29887	broad.mit.edu	37	7	26412152	26412152	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:26412152C>T	ENST00000338523.4	+	7	753	c.566C>T	c.(565-567)tCa>tTa	p.S189L	SNX10_ENST00000409838.1_Missense_Mutation_p.S105L|SNX10_ENST00000446848.2_Missense_Mutation_p.S215L|SNX10_ENST00000396376.1_Missense_Mutation_p.S189L|SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Missense_Mutation_p.S149L|AC004540.4_ENST00000451368.1_RNA|AC004540.4_ENST00000451264.1_RNA	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	189					cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GACAGCAGTTCACATGGATGT	0.373000													77	143					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91804414	91804414	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:91804414C>G	ENST00000389857.6	-	10	1071	c.985G>C	c.(985-987)Gag>Cag	p.E329Q		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	329					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCTCCAGCTCCAGCCTCTCC	0.642000													19	44					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69101126	69101126	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:69101126A>T	ENST00000543976.1	-	1	358	c.112T>A	c.(112-114)Tgg>Agg	p.W38R	TMF1_ENST00000398559.2_Missense_Mutation_p.W38R|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	38					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGGCCCAGATGCTCGGC	0.602000													48	36					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870279	135870279	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:135870279G>A	ENST00000309993.2	-	2	2176	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	MSL2_ENST00000434835.2_Missense_Mutation_p.P408S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	482					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GAGTAGCAAGGGCAGCGTTGG	0.483000													12	39					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													6	30					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100899883	100899883	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:100899883C>G	ENST00000343933.5	-	3	546	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGCGATCTCAAAATCATCA	0.542000													56	127					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230846356	230846356	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:230846356C>T	ENST00000366667.4	-	2	455	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	81					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGGGCCTTTTCATCCACAGGG	0.562000													25	55					0	0	1	0	0
ZNF684	127396	broad.mit.edu	37	1	41012549	41012549	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:41012549A>C	ENST00000372699.3	+	5	805	c.554A>C	c.(553-555)aAa>aCa	p.K185T	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ACAAGGAAAAAACCTTTTGAA	0.368000													14	38					0	0	1	0	0
CYB5R2	51700	broad.mit.edu	37	11	7694000	7694000	+	Silent	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:7694000C>A	ENST00000533558.1	-	2	613	c.57G>T	c.(55-57)ccG>ccT	p.P19P	CYB5R2_ENST00000524790.1_Silent_p.P19P|CYB5R2_ENST00000299498.6_Silent_p.P19P|CYB5R2_ENST00000299497.9_Silent_p.P19P			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	19	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGGGCAGCGGGTACTTGG	0.552000													9	46					1.08611e-07	1.17712e-07	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22804708	22804708	+	Silent	SNP	G	G	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr18:22804708G>T	ENST00000361524.3	-	4	3322	c.3174C>A	c.(3172-3174)ggC>ggA	p.G1058G	ZNF521_ENST00000584787.1_Silent_p.G838G|ZNF521_ENST00000538137.2_Silent_p.G1058G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1058					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGACGTGCTGGCCCCGCCCTG	0.502000			T	PAX5	ALL								15	33					1.05317e-09	1.17422e-09	1	1	0
ECE2	9718	broad.mit.edu	37	3	184003327	184003327	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr3:184003327C>T	ENST00000402825.3	+	10	1564	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	ECE2_ENST00000404464.3_Missense_Mutation_p.R404C|ECE2_ENST00000359140.4_Missense_Mutation_p.R375C|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.R450C	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	522	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGGACCGACGCTTTGAGTC	0.498000													53	56					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712182	93712182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:93712182C>A	ENST00000334746.5	-	10	2879	c.2572G>T	c.(2572-2574)Gag>Tag	p.E858*	BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E432*|BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E507*	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	858										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.532000													19	41					1.67942e-08	1.85117e-08	1	1	0
VPS25	84313	broad.mit.edu	37	17	40925508	40925508	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:40925508C>T	ENST00000253794.2	+	1	55	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	5					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CGATGAGTTTCGAGTGGCCGT	0.622000													47	105					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151378561	151378561	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:151378561C>A	ENST00000271715.2	-	19	3264	c.2950G>T	c.(2950-2952)Gct>Tct	p.A984S	POGZ_ENST00000368863.2_Missense_Mutation_p.A889S|POGZ_ENST00000361398.3_Missense_Mutation_p.A931S|POGZ_ENST00000531094.1_Missense_Mutation_p.A922S|POGZ_ENST00000491586.1_Missense_Mutation_p.A940S|POGZ_ENST00000540984.1_Missense_Mutation_p.A346S|POGZ_ENST00000409503.1_Missense_Mutation_p.A975S|POGZ_ENST00000392723.1_Missense_Mutation_p.A931S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	984					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			CAGCATAGAGCAAACAGTACT	0.532000													25	64					6.21321e-17	7.13233e-17	1	1	0
FAM171B	165215	broad.mit.edu	37	2	187611928	187611928	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:187611928G>C	ENST00000304698.5	+	4	878	c.675G>C	c.(673-675)ttG>ttC	p.L225F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	225						integral to membrane	DNA binding	p.L225L(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AACAGTTTTTGAAAGTGGACA	0.313000													13	12					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899702	4899702	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:4899702C>T	ENST00000404991.1	-	1	1923	c.1737G>A	c.(1735-1737)gtG>gtA	p.V579V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	579					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			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)		CATTGGTATTCACCTGTTGCA	0.468000													22	89					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													3	43					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48524979	48524979	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:48524979G>A	ENST00000396577.3	+	8	1246	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	SLC12A1_ENST00000559723.1_3'UTR|SLC12A1_ENST00000380993.3_Missense_Mutation_p.G344E|SLC12A1_ENST00000558405.1_Missense_Mutation_p.G344E|SLC12A1_ENST00000330289.6_Missense_Mutation_p.G344E	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	344					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTCTTCATTGGAACTGTCATT	0.343000													26	76					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74360219	74360219	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:74360219G>A	ENST00000377044.4	-	4	1288	c.749C>T	c.(748-750)tCa>tTa	p.S250L	TMEM2_ENST00000377066.5_Missense_Mutation_p.S250L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	250						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGGCAAGCCTGAGGAATTCAG	0.507000													17	34					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7651747	7651747	+	Silent	SNP	C	C	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:7651747C>T	ENST00000359156.4	-	4	697	c.495G>A	c.(493-495)ggG>ggA	p.G165G	CD163_ENST00000541972.1_Silent_p.G153G|CD163_ENST00000396620.3_Silent_p.G165G|CD163_ENST00000432237.2_Silent_p.G165G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	165	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AACACATATTCCCTCCACGCG	0.403000													53	149					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51201121	51201121	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:51201121G>A	ENST00000293441.1	-	12	1858	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R614C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R614C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	614					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R614C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCTGAGAGCGATTCGCCACT	0.572000													7	35					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78610397	78610397	+	Silent	SNP	A	A	G			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr5:78610397A>G	ENST00000396137.4	+	9	2844	c.2382A>G	c.(2380-2382)gaA>gaG	p.E794E	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	794	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ACAACCTCGAACCATGTTCTG	0.517000													38	88					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51693066	51693066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr12:51693066C>A	ENST00000267012.4	-	7	584	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	BIN2_ENST00000544402.1_Nonsense_Mutation_p.E149*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.E148*|BIN2_ENST00000452142.2_Nonsense_Mutation_p.E143*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	175	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TTGAACTCTTCCTCTGCCTAG	0.418000													23	28					9.86323e-18	1.14579e-17	1	1	0
NPAS1	4861	broad.mit.edu	37	19	47548510	47548510	+	Silent	SNP	C	C	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr19:47548510C>A	ENST00000602212.1	+	12	1594	c.1374C>A	c.(1372-1374)acC>acA	p.T458T	NPAS1_ENST00000602189.1_Silent_p.T283T|NPAS1_ENST00000449844.2_Silent_p.T458T|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	458					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		CCCCCCAGACCCAGGGCAAAC	0.672000													16	45					3.32936e-07	3.56848e-07	1	1	0
AGRN	375790	broad.mit.edu	37	1	980739	980748	+	Splice_Site	DEL	GTGCCTGCCA	GTGCCTGCCA	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:980739_980748delGTGCCTGCCA	ENST00000379370.2	+	14	2422_2431	c.2371_splice	c.e14-1	p.SACQ791_splice		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	791					axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTTTCAGGTGCCTGCCAGTGCAACCCC	0.700													19	54	---	---	---	---					
RLF	6018	broad.mit.edu	37	1	40661392	40661394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:40661392_40661394delTTC	ENST00000372771.4	+	4	590_592	c.563_565delTTC	c.(562-567)gtt>g	p.VL188del		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	188					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAAACCCAGTTCTTCTTAAAAT	0.369													15	31	---	---	---	---					
RALGPS2	55103	broad.mit.edu	37	1	178745957	178745958	+	Splice_Site	INS	-	-	T			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr1:178745957_178745958insT	ENST00000367635.3	+	2	395		c.e2+1		RALGPS2_ENST00000324778.4_Splice_Site|RALGPS2_ENST00000367634.2_Splice_Site	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2						small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGCTTCTGAGGTAAGATATTTA	0.396													10	23	---	---	---	---					
SF3B6	51639	broad.mit.edu	37	2	24297025	24297026	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:24297025_24297026insTA	ENST00000233468.4	-	2	282_283	c.69_70insTA	c.(67-72)atgaaafs	p.MK23fs		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		23	RRM.				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAATTTCTTATATACAATA	0.292													10	23	---	---	---	---					
CYP1B1	1545	broad.mit.edu	37	2	38298106	38298107	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr2:38298106_38298107insA	ENST00000260630.3	-	3	1791_1792	c.1390_1391insT	c.(1390-1392)agtfs	p.S464fs	CYP1B1_ENST00000407341.1_Frame_Shift_Ins_p.S464fs|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	464					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TTTGCCCACTGAAAAAATCATC	0.505													21	58	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													7	15	---	---	---	---					
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aaa>aa	p.KK262del	INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)			7	95	---	---	---	---					
ZNF804B	219578	broad.mit.edu	37	7	88847522	88847522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:88847522delC	ENST00000333190.4	+	2	771	c.162delC	c.(160-162)aafs	p.N54fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	54						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)			TAAAGGCAAACTTTTACTGTG	0.363										HNSCC(36;0.09)			16	40	---	---	---	---					
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													5	11	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971128	21971128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr9:21971128delG	ENST00000579755.1	-	2	565	c.273delC	c.(271-273)cafs	p.H91fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.T26fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.T77fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H91fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H132fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.T26fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(3)|p.L65fs*38(1)|p.0(1)|p.A76fs*64(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.T77S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCGGGTGAGAGTGGCGGGGTC	0.716		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			9	18	---	---	---	---					
AP003068.18	0	broad.mit.edu	37	11	64943050	64943050	+	RNA	DEL	T	T	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:64943050delT	ENST00000534819.1	-	0	891																											gcccggctaattttttttttg	0.522													2	4	---	---	---	---					
ANKRD13D	338692	broad.mit.edu	37	11	67069025	67069031	+	Frame_Shift_Del	DEL	GCATGGA	GCATGGA	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr11:67069025_67069031delGCATGGA	ENST00000447274.2	+	13	2329_2335	c.1154_1160delGCATGGA	c.(1153-1161)ggfs	p.GME385fs	ANKRD13D_ENST00000308440.6_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000515828.1_Frame_Shift_Del_p.GME122fs|ANKRD13D_ENST00000504236.1_3'UTR|ANKRD13D_ENST00000514166.1_Frame_Shift_Del_p.GME385fs|ANKRD13D_ENST00000511455.2_Frame_Shift_Del_p.GME472fs			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	385										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGCGTGCTGGGCATGGAGCGCAACGAG	0.657													16	92	---	---	---	---					
ZFYVE26	23503	broad.mit.edu	37	14	68265002	68265002	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr14:68265002delC	ENST00000347230.4	-	11	2115	c.1977delG	c.(1975-1977)ggfs	p.G659fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Del_p.G659fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	659					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTATGAGGCCCTGGGTAAC	0.488													30	61	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312381	+	RNA	DEL	TT	TT	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:23312380_23312381delTT	ENST00000560464.1	-	0	3118																											TGTTAttttctttttttttttt	0.401													2	4	---	---	---	---					
CASC5	57082	broad.mit.edu	37	15	40915630	40915631	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:40915630_40915631insC	ENST00000346991.5	+	11	3636_3637	c.3246_3247insC	c.(3244-3249)gactctfs	p.S1083fs	CASC5_ENST00000399668.2_Frame_Shift_Ins_p.S1057fs			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1083	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCTGAATGAACCTCTATCAAG	0.351													12	60	---	---	---	---					
EFTUD1P1	648809	broad.mit.edu	37	15	84773616	84773631	+	RNA	DEL	TGCAATTGGTTTTTTT	TGCAATTGGTTTTTTT	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr15:84773616_84773631delTGCAATTGGTTTTTTT	ENST00000558187.1	+	0	546																											AGATTTTATATGCAATTGGTTttttttagtgaaact	0.384													9	26	---	---	---	---					
NLGN2	57555	broad.mit.edu	37	17	7320905	7320905	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7320905delC	ENST00000302926.2	+	7	2368	c.2295delC	c.(2293-2295)tgfs	p.C765fs	NLGN2_ENST00000575301.1_Frame_Shift_Del_p.C765fs	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	765					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GCCCTGCCTGCCCGCCCGACT	0.751													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577503	7577503	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HD-A633-01A-11D-A28R-08	TCGA-HD-A633-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36aead4f-8d43-426b-ad2c-7dcb249f579e	db856f4b-d854-4bab-b92e-755dfdb8acea	g.chr17:7577503delA	ENST00000420246.2	-	7	910	c.778delT	c.(778-780)ccfs	p.S261fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S261fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.S260fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S261fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S261fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	261	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S260fs*85(2)|p.S260A(2)|p.S260fs*3(2)|p.?(1)|p.E258fs*85(1)|p.S260P(1)|p.E258fs*71(1)|p.S260_S261delSS(1)|p.S260fs*4(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.S260del(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)		CCTGACCTGGAGTCTTCCAGT	0.577		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)			21	46	---	---	---	---					
