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
SLC26A1	10861	broad.mit.edu	37	4	982659	982659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:982659G>A	ENST00000361661.2	-	4	2445	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	690						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCCTGTGGCGGGCTCGTGCT	0.677000													3	23					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													6	262					0.0293803	0.0295675	1	1	0
DHRS7B	25979	broad.mit.edu	37	17	21075510	21075510	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:21075510G>T	ENST00000395511.3	+	2	519		c.e2+1		DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGGGCAAAGGTGGGTCCTGG	0.677000													16	0					6.94344e-10	8.1264e-10	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72956730	72956730	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:72956730C>G	ENST00000261180.4	+	9	1913	c.1817C>G	c.(1816-1818)aCa>aGa	p.T606R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	606					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGGGAAACACAACAGCAGAA	0.328000													32	35					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:50686488C>A	ENST00000216271.5	-	13	1520	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S|HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	390					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGCAGCTGCCTTACACACT	0.652000													6	58					3.59834e-05	3.94817e-05	1	1	0
REV3L	5980	broad.mit.edu	37	6	111650901	111650901	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:111650901T>G	ENST00000435970.1	-	27	8657	c.7841A>C	c.(7840-7842)gAa>gCa	p.E2614A	REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A|REV3L_ENST00000358835.3_Missense_Mutation_p.E2692A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2692					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCAAAATTTCTTCAAGCAT	0.363000								DNA polymerases (catalytic subunits)					27	27					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226378110	226378110	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:226378110G>T	ENST00000272907.6	+	3	658	c.245G>T	c.(244-246)gGc>gTc	p.G82V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	82																	GTAGGGCGAGGCCACGAAGGA	0.463000													17	37					8.00594e-06	9.03527e-06	1	1	0
IL1B	3553	broad.mit.edu	37	2	113588102	113588102	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:113588102C>A	ENST00000263341.2	-	7	856	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	216					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTGTTGAAGACAAATCGCTTT	0.423000													5	88					0.0215528	0.0218291	1	1	0
CDHR5	53841	broad.mit.edu	37	11	621243	621243	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:621243G>A	ENST00000358353.3	-	8	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	209	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682000													20	43					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	215882	215882	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:215882C>T	ENST00000381657.2	+	7	1366	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PLCXD1_ENST00000399012.1_Silent_p.V284V|PLCXD1_ENST00000381663.3_Silent_p.V284V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	284					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCGTGGGTCCGAGAGCAGT	0.647000													9	74					0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988736	154988736	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:154988736G>C	ENST00000368426.3	+	4	1332	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	399					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACACGGGAGAGCGCCCCTA	0.632000													49	76					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113318340	113318340	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:113318340T>C	ENST00000297405.5	-	51	8211	c.7967A>G	c.(7966-7968)tAt>tGt	p.Y2656C	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2656	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTACAAAAATAGGTAACTCG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058814	9058814	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:9058814T>A	ENST00000397910.4	-	3	28835	c.28632A>T	c.(28630-28632)aaA>aaT	p.K9544N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9546	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATATCACTTTTGTTGGCT	0.458000													20	19					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445496	10445496	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:10445496C>T	ENST00000326756.3	-	3	2895	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTCTGAGTCCGCCTGTCTCA	0.468000													18	73					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941713	5941713	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:5941713C>G	ENST00000327087.8	-	5	749	c.678G>C	c.(676-678)caG>caC	p.Q226H	ANO2_ENST00000546188.1_Missense_Mutation_p.Q227H|ANO2_ENST00000356134.5_Missense_Mutation_p.Q227H			Q9NQ90	ANO2_HUMAN	anoctamin 2	231						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGCTCAGCTTCTGCAGAGCCG	0.522000													14	36					0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	1997278	1997278	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:1997278G>C	ENST00000406869.1	-	16	2139	c.1582C>G	c.(1582-1584)Cgg>Ggg	p.R528G	MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	528	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGAGCTCGCCGCTCCAGCTGT	0.637000													10	83					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134379641	134379641	+	Silent	SNP	G	G	C	rs138334962	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:134379641G>C	ENST00000423007.1	+	2	478	c.36G>C	c.(34-36)acG>acC	p.T12T	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000354713.4_Silent_p.T12T|POMT1_ENST00000372228.3_Silent_p.T12T|POMT1_ENST00000404875.2_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	12					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAGTGGTGACGGCTGACATCA	0.577000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	5					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153312868	153312868	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:153312868G>T	ENST00000368739.3	-	7	1159	c.801C>A	c.(799-801)gaC>gaA	p.D267E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271E			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	271					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATAACCAATGTCGCATGACT	0.502000													36	63					1.836e-18	2.30229e-18	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47360082	47360082	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:47360082A>T	ENST00000545968.1	-	23	2351	c.2297T>A	c.(2296-2298)gTc>gAc	p.V766D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	765	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATGACCTTGACTGTGAGGTT	0.617000													9	64					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70575650	70575650	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:70575650A>G	ENST00000302516.5	+	9	1357	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	382					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAAGAAGGAGACACATTCT	0.448000													4	109					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103547200	103547200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:103547200C>G	ENST00000361464.3	-	15	2930	c.2535G>C	c.(2533-2535)atG>atC	p.M845I	MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	845	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTGAATGTCCATCTTTATCA	0.393000													45	4					0	0	1	0	0
HERC2P2	0	broad.mit.edu	37	15	23312005	23312005	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:23312005C>A	ENST00000560464.1	-	0	3266																											CCGCTCTTCACCAGGGTACAG	0.637000													3	5					0.00909568	0.00927173	1	1	0
RYR3	6263	broad.mit.edu	37	15	34018592	34018592	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:34018592C>A	ENST00000389232.4	+	46	6988	c.6918C>A	c.(6916-6918)atC>atA	p.I2306I	RYR3_ENST00000415757.3_Silent_p.I2306I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2306	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAGCTCATCCAGACAGGAA	0.547000													6	6					8.12818e-05	8.79625e-05	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	87					0	0	1	0	0
LPPR1	0	broad.mit.edu	37	9	104086318	104086318	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:104086318G>A	ENST00000374874.3	+	8	1396	c.957G>A	c.(955-957)gcG>gcA	p.A319A	LPPR1_ENST00000395056.2_Silent_p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		319						integral to membrane	catalytic activity										ATCACTCTGCGTCCATGACCG	0.413000													6	12					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74700335	74700335	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr18:74700335C>T	ENST00000397869.3	-	4	513	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_Intron|MBP_ENST00000397866.4_Intron|MBP_ENST00000526111.1_Intron|MBP_ENST00000580402.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000382582.3_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000397875.3_Intron|MBP_ENST00000578193.1_Intron|MBP_ENST00000355994.2_Intron|MBP_ENST00000397865.5_Intron			P02686	MBP_HUMAN	myelin basic protein	218					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		AGAGAGGTCTCGAGAGGAGAG	0.567000													6	10					0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121739545	121739545	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121739545C>A	ENST00000264808.3	-	5	853	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W|PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	205					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTTCTTCCCACAGTTCTTG	0.373000													9	17					0.000442599	0.000463117	1	1	0
RASIP1	54922	broad.mit.edu	37	19	49228098	49228098	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49228098G>A	ENST00000222145.4	-	9	2451	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	749	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCTGGAACACGCCCAGGGTAG	0.612000													38	87					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97274353	97274353	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:97274353C>T	ENST00000599854.1	-	14	1839	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M|KANSL3_ENST00000431828.1_Missense_Mutation_p.V545M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	545																	ACTGTGGTCACTTTGGTCTTG	0.522000													14	61					0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49999203	49999203	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:49999203G>A	ENST00000257894.2	-	1	219	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	20						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATCCTCAGGATGATGGCT	0.517000													10	22					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142223	55142223	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:55142223C>A	ENST00000370862.3	+	5	1144	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	270					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAAGCCCCTGCAGCCTGTTTC	0.507000													14	47					0.000151284	0.000161506	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64780209	64780209	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:64780209G>T	ENST00000422803.1	+	2	1915	c.1601G>T	c.(1600-1602)gGt>gTt	p.G534V	AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V|AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V			Q6ULP2	AFTIN_HUMAN	aftiphilin	534					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGCAAGAAGGTGAGATTGGA	0.388000													13	45					7.03913e-09	8.17781e-09	1	1	0
NR2F2	7026	broad.mit.edu	37	15	96880650	96880650	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:96880650C>T	ENST00000394166.3	+	3	2433	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	NR2F2_ENST00000421109.2_Silent_p.Y215Y|NR2F2_ENST00000394171.2_Silent_p.Y195Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	348	Important for dimerization.|Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGGAAGAATACGTTAGGAGCC	0.493000													100	42					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68305235	68305235	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:68305235C>G	ENST00000393799.2	+	3	370	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	35					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTTTTACAGGAATGTAA	0.363000													13	31					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27169062	27169062	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:27169062C>T	ENST00000360046.5	-	2	810	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	249						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGTGTGGGCGATCTCGATG	0.572000													56	60					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70356869	70356869	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70356869A>G	ENST00000333646.6	+	38	5740	c.5541A>G	c.(5539-5541)ccA>ccG	p.P1847P	MED12_ENST00000374080.3_Silent_p.P1847P|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Silent_p.P1847P	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1847	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACCAGCCACTACCTGCAG	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	12					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45689855	45689855	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:45689855G>T	ENST00000322157.4	+	18	2362	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	709					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGGGCTTGGTTCTGGGAAA	0.428000													13	18					4.3838e-07	4.98303e-07	1	1	0
TMEM81	388730	broad.mit.edu	37	1	205053392	205053392	+	Silent	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:205053392C>G	ENST00000367167.3	-	1	253	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	19						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACCAAAGGCAGGTAGAAGG	0.522000													36	41					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101535731	101535731	+	Missense_Mutation	SNP	C	C	T	rs147008534		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:101535731C>T	ENST00000422132.1	+	4	1212	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	NXPE3_ENST00000491511.1_Missense_Mutation_p.R339C|NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C|NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C					neurexophilin and PC-esterase domain family, member 3																		GTTTAAGATGCGTCAGTTTAA	0.393000													38	36					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22729287	22729287	+	RNA	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:22729287T>G	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGCACCCACTTTTCTTTCAC	0.403000													23	183					0	0	1	0	0
AC005863.1	0	broad.mit.edu	37	17	14673498	14673498	+	RNA	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:14673498T>A	ENST00000379640.1	-	0	399																											CATGTTCAGATCACTCCACCC	0.493000													10	11					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45396744	45396744	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:45396744C>A	ENST00000303230.4	-	4	1137	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	360						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGCTCCATACCCAATGCACA	0.478000													29	95					4.87955e-14	5.93054e-14	1	1	0
SRBD1	55133	broad.mit.edu	37	2	45812822	45812822	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:45812822C>G	ENST00000263736.4	-	5	802	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	247					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTCTATAACGTATAATGAA	0.353000													6	34					0	0	1	0	0
COX18	285521	broad.mit.edu	37	4	73930519	73930519	+	Silent	SNP	G	G	A	rs61741433	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73930519G>A	ENST00000295890.4	-	4	787	c.696C>T	c.(694-696)ggC>ggT	p.G232G	COX18_ENST00000507544.2_Silent_p.G233G	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	232					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATTGATGACGCCAACAGAGA	0.408000													4	66					0	0	1	0	0
MAT2A	4144	broad.mit.edu	37	2	85768241	85768241	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85768241G>C	ENST00000306434.3	+	2	250	c.127G>C	c.(127-129)Gat>Cat	p.D43H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	43					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCTGTCCTTGATGCCCACCT	0.368000													18	77					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:131404727G>A	ENST00000512055.1	-	10	2709	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*			Q96A23	CPNE4_HUMAN	copine IV	195	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378000													17	27					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:55533846C>A	ENST00000220676.1	+	2	468	c.320C>A	c.(319-321)tCc>tAc	p.S107Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	107	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGTTCCCACGGCAGG	0.677000													9	98					0.00621372	0.00637511	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46804949	46804949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46804949C>G	ENST00000262738.3	-	9	5169	c.5170G>C	c.(5170-5172)Gag>Cag	p.E1724Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1724	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACGCTGTCCTCCTTCCGGGTC	0.642000													46	3					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772533	140772533	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:140772533G>A	ENST00000371372.1	+	1	293	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	50					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAATCGATCGCGCAGCGCGC	0.731000													6	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179639016	179639016	+	Silent	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:179639016G>C	ENST00000589042.1	-	30	7199	c.6975C>G	c.(6973-6975)gtC>gtG	p.V2325V	TTN_ENST00000591111.1_Silent_p.V2325V|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V2279V|TTN_ENST00000360870.5_Silent_p.V2325V|TTN_ENST00000359218.5_Silent_p.V2279V|TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000342175.6_Silent_p.V2279V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2042	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCCTTGACCGTGAGGT	0.408000													20	52					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41707232	41707232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:41707232G>T	ENST00000310054.4	+	6	1147	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	311					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAGCACCACGGTCGGCTATAC	0.498000													36	87					1.08052e-11	1.27405e-11	1	1	0
ZNF234	10780	broad.mit.edu	37	19	44660704	44660704	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:44660704G>A	ENST00000426739.2	+	6	793	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATACATGTGATGAGTGTGG	0.388000													35	78					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957351	35957351	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:35957351C>G	ENST00000341959.2	-	1	800	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AAGACGATCACCACGGTGAGG	0.507000													61	47					0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954797	72954797	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:72954797T>C	ENST00000421285.3	+	11	1052	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	351								p.V351A(4)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGCAGGAGGTGCAGAGAGTG	0.562000													3	7					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:112622580C>T	ENST00000550722.1	-	61	10147	c.9752G>A	c.(9751-9753)cGc>cAc	p.R3251H	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CACCAGCAAGCGGCTGTGGGC	0.697000													19	91					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101832029	101832029	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:101832029G>T	ENST00000375001.3	+	42	4451	c.4028G>T	c.(4027-4029)cGa>cTa	p.R1343L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1343	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAAGCATGGCGAACCGCGGAC	0.527000													13	102					0.00010058	0.000108106	1	1	0
MED12	9968	broad.mit.edu	37	X	70350051	70350051	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70350051A>C	ENST00000333646.6	+	28	4233	c.4034A>C	c.(4033-4035)aAg>aCg	p.K1345T	MED12_ENST00000374080.3_Missense_Mutation_p.K1345T|MED12_ENST00000478889.1_Intron|MED12_ENST00000374102.1_Missense_Mutation_p.K1345T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1345					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCGCATAAAGCGCATTCTC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	25					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:6692406G>A	ENST00000309577.6	-	26	4181	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.R1340C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ACCTGTTTACGGATTCTTTTT	0.562000													69	107					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38260158	38260158	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:38260158C>A	ENST00000379957.4	+	7	1227	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	LETM2_ENST00000524874.1_Missense_Mutation_p.T319K|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K|LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|LETM2_ENST00000528827.1_3'UTR	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	367	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CAACAGCTCACGGAGGCAAGT	0.542000													22	51					7.3207e-31	9.25336e-31	1	1	0
HPN	3249	broad.mit.edu	37	19	35540200	35540200	+	Missense_Mutation	SNP	G	G	A	rs149970077	byFrequency	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:35540200G>A	ENST00000262626.2	+	3	848	c.23G>A	c.(22-24)cGg>cAg	p.R8Q	HPN_ENST00000392226.1_Missense_Mutation_p.R8Q|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	8					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCAGGTGGCCGGACTGTGCCA	0.672000													31	216					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558122	54558122	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:54558122C>G	ENST00000566473.2	+	16	2043	c.2043C>G	c.(2041-2043)taC>taG	p.Y681*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Y681*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	681										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGTTCTTCTACGAGCTCCAGA	0.418000													36	71					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745263	50745263	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:50745263G>C	ENST00000300589.2	+	4	1546	c.1441G>C	c.(1441-1443)Ggt>Cgt	p.G481R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	481	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGCACGGTTTGTGCCA	0.597000													41	65					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315221	12315221	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:12315221T>G	ENST00000256186.2	+	3	534	c.243T>G	c.(241-243)taT>taG	p.Y81*		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	81	Interaction with MAPK1 (By similarity).				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TTCCCCTGTATCTGCCTCATC	0.587000													6	189					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198285262	198285262	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:198285262T>G	ENST00000335508.5	-	4	396	c.305A>C	c.(304-306)gAt>gCt	p.D102A	SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A|SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A|SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	102					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAAATGGATCATACTGAAA	0.368000			Mis		myelodysplastic syndrome								38	17					0	0	1	0	0
TRBV25-1	0	broad.mit.edu	37	7	142378879	142378879	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:142378879C>A	ENST00000390398.3	+	0	184																											TGGGCCATGACAAAATGTACT	0.443000													41	49					2.40579e-17	2.99303e-17	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73205322	73205322	+	Missense_Mutation	SNP	G	G	C	rs142264188		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:73205322G>C	ENST00000286657.4	-	5	786	c.750C>G	c.(748-750)caC>caG	p.H250Q		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	250					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCTCCCGCGTGTCTGCGGC	0.502000													6	247					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577956	85577956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85577956C>A	ENST00000295802.4	-	3	656	c.544G>T	c.(544-546)Gag>Tag	p.E182*	RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	182					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAAACTTCTCCTTGAGGCCC	0.483000													10	108					0.000442599	0.000463117	1	1	0
BCHE	590	broad.mit.edu	37	3	165547849	165547849	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:165547849C>A	ENST00000264381.3	-	2	1139	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	325					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	GTGAGAAAATCACCATCCACG	0.383000													60	2					1.54043e-34	1.96281e-34	1	1	0
FOXD4	2298	broad.mit.edu	37	9	117618	117618	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117618C>T	ENST00000382500.2	-	1	799	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGGCCCGGCTCGCGGGGGATC	0.632000													7	405					0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7011223	7011223	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7011223C>T	ENST00000380952.2	-	5	620	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D|ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	119					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCACGCTGCCTCCTGGAAG	0.647000													27	1					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059114	248059114	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:248059114A>G	ENST00000537741.1	+	3	483	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	OR2W3_ENST00000360358.3_Missense_Mutation_p.S76G			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTTCACCACCAGCTCCATCCC	0.582000													9	213					0	0	1	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													7	64					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958225	121958225	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121958225C>T	ENST00000379692.4	-	4	1427	c.901G>A	c.(901-903)Gtc>Atc	p.V301I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	301	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATCAGAGACGGTGAAGATG	0.463000													18	18					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44840174	44840174	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:44840174G>A	ENST00000270162.6	-	8	1044	c.912C>T	c.(910-912)taC>taT	p.Y304Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	304	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGCTCATCGTAGTCGCCCA	0.692000													42	32					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657752	46657752	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46657752A>C	ENST00000253255.5	-	1	1467	c.1468T>G	c.(1468-1470)Ttc>Gtc	p.F490V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	490	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATTTATAGAAATCACGGCTT	0.368000													51	57					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152857173	152857173	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:152857173C>G	ENST00000368765.3	+	2	425	c.275C>G	c.(274-276)cCg>cGg	p.P92R		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCAACTCACCGCAAACTCAG	0.532000													7	195					0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53433961	53433961	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:53433961C>G	ENST00000262056.9	+	15	2116	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	597					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTGCTCTCTCTGTTGATGGT	0.438000													24	65					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:86274381G>T	ENST00000263857.6	-	19	3018	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	880					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAAAAGGCATGCATGCCTGCA	0.478000													6	37					3.59834e-05	3.94817e-05	1	1	0
FBXW7	0	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:153250906G>A	ENST00000281708.4	-	8	2383	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	385					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								24	17					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	1955	1955	+	RNA	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrM:1955G>A	ENST00000387347.2	+	0	285					NR_039705.1																						ACACCCGTCTATGTAGCAAAA	0.413000													89	0					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404746	10404746	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:10404746C>T	ENST00000226207.5	-	27	3513	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1140H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGATCAGAGCGCTGCTTCTC	0.587000													52	9					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46602865	46602865	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:46602865G>A	ENST00000263734.3	+	8	1433	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	308	PAC.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCAGTACCGGATGCTCGCA	0.602000													18	39					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47035510	47035510	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:47035510G>C	ENST00000450053.3	+	11	1376	c.1197_splice	c.e11+1	p.K399_splice	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.K399_splice	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	399							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTCGGCCAAGGTGAGGCTGC	0.602000													3	16					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886369	23886369	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:23886369C>G	ENST00000507380.1	-	2	317	c.240G>C	c.(238-240)agG>agC	p.R80S	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAAAGGATGTCCTTACCTCAA	0.388000													19	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957190	237957190	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957190A>G	ENST00000366574.2	+	95	14123	c.13806A>G	c.(13804-13806)cgA>cgG	p.R4602R	RYR2_ENST00000542537.1_Silent_p.R4586R|RYR2_ENST00000360064.6_Silent_p.R4608R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTTAAGCGAGAAAAGGAAG	0.348000													14	11					0	0	1	0	0
GSPT2	23708	broad.mit.edu	37	X	51487066	51487066	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:51487066A>G	ENST00000340438.4	+	1	586	c.344A>G	c.(343-345)gAg>gGg	p.E115G		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	115					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTTCCCGAGAGGAACCGTTA	0.557000													5	22					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957189	237957189	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:237957189G>C	ENST00000366574.2	+	95	14122	c.13805G>C	c.(13804-13806)cGa>cCa	p.R4602P	RYR2_ENST00000542537.1_Missense_Mutation_p.R4586P|RYR2_ENST00000360064.6_Missense_Mutation_p.R4608P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4602					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTTTAAGCGAGAAAAGGAA	0.353000													14	11					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117617	117617	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:117617T>C	ENST00000382500.2	-	1	800	c.503A>G	c.(502-504)gAg>gGg	p.E168G		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	168					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCGGCCCGGCTCGCGGGGGAT	0.637000													7	405					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D773N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478000													112	272					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			70	2					0	0	1	0	0
CHM	1121	broad.mit.edu	37	X	85211373	85211373	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:85211373C>T	ENST00000357749.2	-	8	980	c.951G>A	c.(949-951)gaG>gaA	p.E317E	CHM_ENST00000537751.1_Silent_p.E169E|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	317					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAAATGTGATCTCTTCATATC	0.328000													6	21					0	0	1	0	0
ZNF736	728927	broad.mit.edu	37	7	63796701	63796701	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:63796701C>T	ENST00000355095.4	+	3	390	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF736_ENST00000423484.1_Missense_Mutation_p.S23F	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGCCTGGACTCTGCTCAGCAG	0.423000													25	14					0	0	1	0	0
WT1-AS	0	broad.mit.edu	37	11	32460592	32460592	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:32460592C>A	ENST00000395900.1	+	0	1470				WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000525436.1_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CACCCCGGCGCTGTCCACTGC	0.612000													13	24					2.48551e-13	2.97507e-13	1	1	0
TTC40	54777	broad.mit.edu	37	10	134671120	134671120	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:134671120C>A	ENST00000368586.5	-	39	5648	c.5548G>T	c.(5548-5550)Gtc>Ttc	p.V1850F	TTC40_ENST00000263170.5_Missense_Mutation_p.V11F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	11										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGGCCCTGGACGCTGTGAAGC	0.572000													13	10					2.62699e-14	3.21755e-14	1	1	0
CNPY2	10330	broad.mit.edu	37	12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:56705098C>T	ENST00000273308.4	-	4	845	c.305G>A	c.(304-306)cGc>cAc	p.R102H	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						GTAGTTCTTGCGATGGGTGGA	0.532000													115	111					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70646733	70646733	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:70646733C>A	ENST00000322773.4	+	8	906	c.804C>A	c.(802-804)gcC>gcA	p.A268A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	268					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGCTCATGCCAGTAAAATGT	0.418000													6	83					3.59834e-05	3.94817e-05	1	1	0
TACC3	10460	broad.mit.edu	37	4	1729792	1729792	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:1729792G>C	ENST00000313288.4	+	4	769	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	221						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGGAGCCGAGGAAGAATGCA	0.617000													16	123					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155013892	155013892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:155013892G>A	ENST00000295542.1	+	7	647	c.551G>A	c.(550-552)aGa>aAa	p.R184K	DCST1_ENST00000368419.2_Missense_Mutation_p.R184K|DCST1_ENST00000423025.2_Missense_Mutation_p.R159K|DCST1_ENST00000392480.1_Missense_Mutation_p.R184K	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	184						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAATTGCTGAGAGCAGAGACT	0.577000													5	50					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882348	16882348	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:16882348T>G	ENST00000377833.4	-	62	10078	c.10013A>C	c.(10012-10014)cAg>cCg	p.Q3338P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3338	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCTGAAGCTGTAAGTAATT	0.448000													21	38					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													5	102					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35652661	35652661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:35652661C>T	ENST00000357214.5	-	9	2025	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	643					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATTAGCTTCATAACCTATG	0.463000			T	TFE3	papillary renal cell								17	86					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850453	182850453	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:182850453C>T	ENST00000367549.3	+	23	2789	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	893					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGAGCCTTTCATCAATGAAG	0.438000													54	47					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574908	28574908	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:28574908C>T	ENST00000220562.4	+	3	2234	c.1332C>T	c.(1330-1332)tcC>tcT	p.S444S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Silent_p.S60S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	444						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGGTTATTTCCTCTGGGTGTG	0.617000													4	62					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491273	74491273	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:74491273C>T	ENST00000394019.2	-	10	1113		c.e10+1		SLC4A5_ENST00000483195.1_Splice_Site|RP11-287D1.3_ENST00000451608.2_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5							apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCTGACTCACTTGTGGTGGA	0.592000													17	48					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26691433	26691433	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:26691433G>T	ENST00000436292.1	-	4	724	c.604C>A	c.(604-606)Cca>Aca	p.P202T	ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T|ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTGGGGTGGAGGCAGGAGA	0.602000													14	37					1.49906e-05	1.6798e-05	1	1	0
CYP4Z2P	0	broad.mit.edu	37	1	47325231	47325231	+	RNA	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:47325231C>A	ENST00000505841.1	-	0	1204					NR_002788.2																						TCCACAGAGTCTAAGGATAAA	0.388000													3	12					6.4e-05	6.97379e-05	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100730756	100730756	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100730756C>T	ENST00000306085.6	+	3	460	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	55					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGCCGCGTCCGCTGCCCCGA	0.647000													27	72					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44574199	44574199	+	Silent	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:44574199G>T	ENST00000289547.4	-	6	2068	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	NPC1L1_ENST00000546276.1_Silent_p.G671G|NPC1L1_ENST00000423141.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	671	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGCCACCCCGCCGAGGCCCA	0.622000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	60					6.49762e-13	7.71898e-13	1	1	0
SLC17A5	26503	broad.mit.edu	37	6	74363526	74363526	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:74363526C>A	ENST00000355773.5	-	1	352	c.84G>T	c.(82-84)cgG>cgT	p.R28R	SLC17A5_ENST00000393019.3_Silent_p.R28R	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	28					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGGCTTCGGCCCGTGGGGCGC	0.726000													3	6					0.115264	0.115264	1	1	0
MCAM	4162	broad.mit.edu	37	11	119182524	119182524	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:119182524T>G	ENST00000392814.1	-	5	1855	c.1126A>C	c.(1126-1128)Att>Ctt	p.I376L	MCAM_ENST00000264036.4_Missense_Mutation_p.I427L			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	427	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCACCAAAAATGGCCACGTTG	0.602000													70	5					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32513671	32513671	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:32513671C>T	ENST00000286827.3	-	22	4098	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_ENST00000541036.1_Silent_p.A1149A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1209	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1209A(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCGCTCTCCGCATCGGTCA	0.597000													35	98					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129437	6129437	+	Silent	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:6129437T>G	ENST00000316529.3	+	1	524	c.429T>G	c.(427-429)acT>acG	p.T143T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATAGTCACTAAAGCTTTTG	0.498000													26	58					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578966	141578966	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:141578966C>T	ENST00000442267.2	-	12	1996	c.1921_splice	c.e12-1	p.G641_splice		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	641	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACCAGTGCACCTGTGGCAGC	0.502000													41	78					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1318557	1318557	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:1318557A>C	ENST00000320895.5	-	17	1801	c.1544T>G	c.(1543-1545)gTg>gGg	p.V515G	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	515					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GCGTTTATCCACAGGATAAAG	0.562000													7	63					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37985968	37985968	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:37985968A>T	ENST00000343823.6	+	11	1634	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L|ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	442	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTTGGTCCCAGCCCCTAGGT	0.527000													36	25					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163673	141163673	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:141163673A>G	ENST00000514251.1	+	4	2722	c.2443A>G	c.(2443-2445)Att>Gtt	p.I815V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	815					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AACCAGCAAAATTGAAACCTA	0.433000													6	75					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)			37	4					0.000228196	0.000241979	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526781	23526781	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:23526781G>A	ENST00000296682.3	+	11	1766	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	528					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTATGGAGAGTGTGGACAAG	0.458000										HNSCC(3;0.000094)			49	55					0	0	1	0	0
ENPP2	0	broad.mit.edu	37	8	120599309	120599309	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:120599309G>C	ENST00000427067.2	-	14	1382	c.1202C>G	c.(1201-1203)cCc>cGc	p.P401R	ENPP2_ENST00000075322.6_Missense_Mutation_p.P405R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R|ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	405					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCTTTGGGGTCATCTGT	0.478000													5	13					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													4	86					0	0	1	0	0
RP1-274L7.1	0	broad.mit.edu	37	X	129630083	129630083	+	RNA	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:129630083A>C	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CGTTTTCAGAAGTTTCGGCTG	0.413000													19	54					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933595	48933595	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:48933595T>A	ENST00000356463.3	-	8	887	c.449A>T	c.(448-450)gAc>gTc	p.D150V	WDR45_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000376372.3_Missense_Mutation_p.D149V|WDR45_ENST00000396681.4_Missense_Mutation_p.D149V|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000470270.1_5'UTR	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	149					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGGGCAGAGGTCACAGAGCCC	0.597000													8	25					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563758	64563758	+	Missense_Mutation	SNP	G	G	A	rs148240107		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:64563758G>A	ENST00000294066.2	-	24	1829	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	580	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGATGATGCGCTGGGTGAGG	0.647000													19	75					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881282	26881282	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:26881282G>A	ENST00000231021.4	-	12	2505	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	778					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATACATATCGGCAAGTTTTTT	0.413000													129	67					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200974	19200974	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200974C>A	ENST00000375341.3	-	14	1819	c.1562G>T	c.(1561-1563)gGg>gTg	p.G521V	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470V|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TCGGGCCCCCCCAAAGGGCTG	0.607000													7	91					2.7689e-08	3.19333e-08	1	1	0
AP1S2	8905	broad.mit.edu	37	X	15864064	15864064	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:15864064G>T	ENST00000380291.1	-	3	366	c.250C>A	c.(250-252)Cat>Aat	p.H84N	AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000329235.2_Missense_Mutation_p.H84N|AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	84					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ACATAACGATGAATTATTTCC	0.318000													37	65					4.32679e-17	5.34088e-17	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32074556	32074556	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:32074556G>A	ENST00000438447.1	+	18	3732	c.3344G>A	c.(3343-3345)gGc>gAc	p.G1115D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1115D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1115					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAAGGCCTGGGCTCCAGGCAC	0.597000													5	213					0	0	1	0	0
GMCL1	64395	broad.mit.edu	37	2	70096956	70096956	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:70096956G>A	ENST00000282570.3	+	12	1575	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	442					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCATGTAGCGGATCTGTCAG	0.433000													13	35					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19200975	19200975	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:19200975C>A	ENST00000375341.3	-	14	1818	c.1561G>T	c.(1561-1563)Ggg>Tgg	p.G521W	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.G521W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.G470W|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.G461W	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	521					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CGGGCCCCCCCAAAGGGCTGC	0.612000													8	92					1.06961e-07	1.22463e-07	1	1	0
LYPLA2	11313	broad.mit.edu	37	1	24121215	24121218	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:24121215_24121218delCTGT	ENST00000374514.3	+	10	996_999	c.689_692delCTGT	c.(688-693)ccfs	p.PV230fs	LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	230					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CTGCTGCCTCCTGTCTAACTAGTC	0.593													8	24	---	---	---	---					
SDHAP1	0	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													7	9	---	---	---	---					
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:7581043delC	ENST00000379802.3	+	23	4961	c.4620delC	c.(4618-4620)atfs	p.I1540fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1540	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502													66	177	---	---	---	---					
C6orf223	221416	broad.mit.edu	37	6	43970504	43970509	+	In_Frame_Del	DEL	GCGGCG	GCGGCG	-	rs72369323		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:43970504_43970509delGCGGCG	ENST00000336600.5	+	4	390_395	c.370_375delGCGGCG	c.(370-375)del	p.AA130del	RP5-1120P11.1_ENST00000422059.1_RNA|RP5-1120P11.1_ENST00000607590.1_RNA|C6orf223_ENST00000448947.2_3'UTR|C6orf223_ENST00000439969.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	130	Ala-rich.									central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGTAGAGCGCgcggcggcggcggcgg	0.772													13	15	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													2	4	---	---	---	---					
RP11-764K9.1	0	broad.mit.edu	37	9	68398095	68398095	+	RNA	DEL	C	C	-	rs74487823		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:68398095delC	ENST00000417843.2	-	0	2660																											CCATGCTTAGCTTGGGTTTCT	0.353													3	6	---	---	---	---					
ZNF219	0	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	5	---	---	---	---					
CSPG4P5	0	broad.mit.edu	37	15	84958415	84958426	+	RNA	DEL	CGAGGACATTGG	CGAGGACATTGG	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:84958415_84958426delCGAGGACATTGG	ENST00000558801.1	-	0	6303_6314																											TCGGGCACCACGAGGACATTGGTGAGGACAGG	0.557													6	0	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													8	162	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													9	381	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tca>t	p.SP203del	ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del			P26651	TTP_HUMAN	ZFP36 ring finger protein	197					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													10	1302	---	---	---	---					
CCDC155	147872	broad.mit.edu	37	19	49920659	49920659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49920659delC	ENST00000447857.3	+	20	1786	c.1581delC	c.(1579-1581)gtfs	p.V527fs		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	527						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGCTCCTGTCCTGGGCctgc	0.652													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11068846	11068846	+	RNA	DEL	G	G	-	rs140512265		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11068846delG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gaatgatgctggaactgccaa	0.289													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11082601	11082603	+	RNA	DEL	CTC	CTC	-	rs150832397		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11082601_11082603delCTC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTTGTCTTCTCCTTCTGACAC	0.320													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11088890	11088891	+	RNA	INS	-	-	A	rs143023296		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:11088890_11088891insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAAAATATACAAAAAAAGTTT	0.292													4	6	---	---	---	---