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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PTEN	5728	broad.mit.edu	37	10	89720664	89720664	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:89720664A>G	uc001kfb.3	+	7	1847	c.815A>G	c.(814-816)cAc>cGc	p.H272R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	272	C2 tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.H272R(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1)|p.H272Y(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAATGTTTCACTTTTGGGTA	0.269000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				2			6		0	0	0.00307968	0	0
PDE1C	5137	broad.mit.edu	37	7	32209518	32209518	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:32209518C>T	uc003tco.2	-	2	223	c.187G>A	c.(187-189)Ggg>Agg	p.G63R		NM_001191058	NP_001177987	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA.	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517000														100			50		0	0	0.00361006	0	0
UROD	7389	broad.mit.edu	37	1	45478860	45478860	+	Silent	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:45478860T>G	uc001cna.2	+	2	319	c.186T>G	c.(184-186)ccT>ccG	p.P62P	HECTD3_uc009vxk.3_5'Flank|HECTD3_uc010olh.2_5'Flank|UROD_uc010oli.2_Silent_p.P62P|UROD_uc001cnb.2_Silent_p.P27P|UROD_uc010olj.1_Silent_p.P27P	NM_000374	NP_000365	P06132	DCUP_HUMAN	Homo sapiens uroporphyrinogen decarboxylase (UROD), transcript variant 1, mRNA.	62			P -> L (in HEP).			cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GTCGCTCTCCTGAGGCCTGCT	0.557000									Porphyria Cutanea Tarda, Type II					21			34		0	0	0.00327116	0	0
GLRA1	2741	broad.mit.edu	37	5	151271929	151271929	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:151271929C>T	uc003lut.3	-	1	414	c.127G>A	c.(127-129)Gat>Aat	p.D43N	GLRA1_uc003lur.3_Missense_Mutation_p.D43N|GLRA1_uc003lus.3_Intron	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	43					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTAGCTTATCCAGGAAATCC	0.502000														20			20		0	0	0.000958276	0	0
SLC22A8	9376	broad.mit.edu	37	11	62761330	62761330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:62761330C>T	uc009yon.3	-	8	1358	c.1237G>A	c.(1237-1239)Gta>Ata	p.V413I	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.V290I|SLC22A8_uc001nwo.3_Missense_Mutation_p.V413I|SLC22A8_uc010rmm.2_Missense_Mutation_p.V322I|SLC22A8_uc001nwp.2_Missense_Mutation_p.V413I	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	413					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						ACAGCCAATACTGTCCTCACG	0.512000														26			19		0	0	0.00152264	0	0
DNAH8	1769	broad.mit.edu	37	6	38819443	38819443	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38819443C>T	uc021yzh.1	+	38	5568	c.5459C>T	c.(5458-5460)aCc>aTc	p.T1820I	DNAH8_uc003ooe.2_Missense_Mutation_p.T1603I	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTCCCACACCATACAGGTA	0.368000														26			23		0	0	0.000720815	0	0
CEP192	55125	broad.mit.edu	37	18	13056304	13056304	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:13056304G>A	uc010xac.2	+	18	3795	c.3715G>A	c.(3715-3717)Gac>Aac	p.D1239N	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.D764N|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.D980N	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	834										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTCTGTGGCTGACATGCAGAA	0.537000														11			10		0	0	0.000673444	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591903	100591903	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:100591903G>A	uc002bvv.1	-	16	2408	c.2329C>T	c.(2329-2331)Cat>Tat	p.H777Y		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	777	Spacer.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TATTCATAATGAATTCCATAA	0.468000														103			30		0	0	0.00209593	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651601	8651601	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:8651601C>T	uc002mkj.1	-	19	2518	c.2244G>A	c.(2242-2244)ctG>ctA	p.L748L	ADAMTS10_uc002mki.1_Silent_p.L235L|ADAMTS10_uc002mkk.1_Silent_p.L380L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	748	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGTCTCCCTTCAGGGCTGGGG	0.642000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			20		0	0	0.00188189	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123433	140123433	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:140123433C>T	uc003etn.3	+	3	652	c.462C>T	c.(460-462)aaC>aaT	p.N154N	CLSTN2_uc003etm.2_Silent_p.N154N	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	154	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGATGTCAACGAGTTTGCTC	0.532000										HNSCC(16;0.037)				6			23		0	0	0.00332997	0	0
LRRC47	57470	broad.mit.edu	37	1	3703771	3703771	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3703771T>G	uc001akx.1	-	1	747	c.719A>C	c.(718-720)aAg>aCg	p.K240T		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	240					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTCCAGGCGCTTGTCCCTCAG	0.622000														38			15		0	0	0.000566183	0	0
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310452	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:37310452C>T	uc002rpp.1	-	1	202	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	CCDC75_uc010ezz.3_5'Flank|CCDC75_uc002rpr.4_5'Flank	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	36							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGA	0.373000														38			28		0	0	0.00106085	0	0
SMARCC1	6599	broad.mit.edu	37	3	47718184	47718184	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:47718184G>A	uc003crq.2	-	16	1778	c.1660C>T	c.(1660-1662)Cct>Tct	p.P554S	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.P445S	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	554					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity	p.T553A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TTAAAATGAGGAGTAGGAGGA	0.448000														24			7		0	0	0.00307968	0	0
FBXL16	146330	broad.mit.edu	37	16	747111	747111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:747111C>T	uc021taa.1	-	1	623	c.295G>A	c.(295-297)Gag>Aag	p.E99K	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	99	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				AGGATCTTCTCGTCCGTGGCC	0.697000														3			18		0	0	0.00121646	0	0
EMR1	2015	broad.mit.edu	37	19	6919730	6919730	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:6919730C>T	uc002mfw.3	+	12	1630	c.1592C>T	c.(1591-1593)cCa>cTa	p.P531L	EMR1_uc010dvc.3_Missense_Mutation_p.P531L|EMR1_uc010dvb.3_Missense_Mutation_p.P479L|EMR1_uc010xji.2_Missense_Mutation_p.P390L|EMR1_uc010xjj.2_Missense_Mutation_p.P354L	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	531	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTCTCAGATCCAATCATCTAC	0.478000														56			22		0	0	0.00188189	0	0
XIRP2	129446	broad.mit.edu	37	2	168103547	168103547	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168103547G>A	uc002udx.3	+	8	5734	c.5645G>A	c.(5644-5646)tGg>tAg	p.W1882*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.W1707*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.W1660*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1707					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCCATCGATGGAAAGAATCT	0.368000														34			21		0	0	0.00332997	0	0
OR7A5	26659	broad.mit.edu	37	19	14938289	14938289	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:14938289G>A	uc002mzw.3	-	0	988	c.765C>T	c.(763-765)atC>atT	p.I255I	OR7A5_uc010xoa.2_Silent_p.I255I	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						ACACCCCTAGGATTGCACCAT	0.488000														31			21		0	0	0.00188189	0	0
SELP	6403	broad.mit.edu	37	1	169565313	169565313	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:169565313C>T	uc001ggi.4	-	11	2016	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	SELP_uc001ggh.3_Missense_Mutation_p.G486R|SELP_uc009wvr.3_Missense_Mutation_p.G651R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	651	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TACATGGTTCCCTGCCCAGGA	0.488000														68			109		0	0	0.00361006	0	0
MED29	55588	broad.mit.edu	37	19	39884203	39884203	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:39884203G>A	uc002olf.3	+	2	386	c.349G>A	c.(349-351)Gat>Aat	p.D117N	PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Non-coding_Transcript	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Homo sapiens mediator complex subunit 29 (MED29), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			AAAGAGCAGTGATGGACCCAT	0.478000														215			15		0	0	0.00316338	0	0
DSG1	1828	broad.mit.edu	37	18	28918330	28918330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:28918330G>A	uc002kwp.3	+	9	1530	c.1318G>A	c.(1318-1320)Ggc>Agc	p.G440S		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	440	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTCAAGAACAGGCAAACTCAC	0.333000														24			25		0	0	0.00395357	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140308819	140308819	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140308819G>A	uc003lih.2	+	0	2518	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.R781Q	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	830					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGACCTGCGAAATCTTGCC	0.468000														24			30		0	0	0.00127121	0	0
GNMT	27232	broad.mit.edu	37	6	42931339	42931339	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:42931339C>T	uc003otd.3	+	5	789	c.783C>T	c.(781-783)ttC>ttT	p.F261F	BC040637_uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	Homo sapiens glycine N-methyltransferase (GNMT), mRNA.	261					S-adenosylmethionine metabolic process|protein homotetramerization|protein modification process		folic acid binding|glycine N-methyltransferase activity|glycine binding			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAGCAGCCTTCGGAGGTAAGT	0.567000														59			23		0	0	0.00332997	0	0
CXorf59	286464	broad.mit.edu	37	X	36117931	36117931	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:36117931G>A	uc004ddk.1	+	6	973	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	263						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TATTGTTATAGAAATGTCTAA	0.323000														15			36		0	0	0.00148497	0	0
KCNC1	3746	broad.mit.edu	37	11	17793621	17793621	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:17793621A>G	uc009yhc.1	+	1	1035	c.980A>G	c.(979-981)cAc>cGc	p.H327R	KCNC1_uc001mnk.4_Missense_Mutation_p.H327R	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	327						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGACCCGCCACTTTGTGGGC	0.647000														3			6		0	0	0.00198382	0	0
PSMD9	5715	broad.mit.edu	37	12	122353785	122353785	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:122353785C>T	uc001ubl.3	+	4	696	c.579C>T	c.(577-579)atC>atT	p.I193I	WDR66_uc009zxk.3_5'Flank|PSMD9_uc009zxj.3_Non-coding_Transcript|WDR66_uc021rfh.1_5'Flank	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	193	PDZ.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		TGACAGTGATCCGCAGGGGGG	0.478000														19			8		0	0	0.000274275	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110535117	110535117	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:110535117G>A	uc003yne.3	+	74	12432	c.12328G>A	c.(12328-12330)Gac>Aac	p.D4110N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	4110					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACAGATTCTGACGTAAGTCA	0.483000										HNSCC(38;0.096)				9			4		0	0	0.000602214	0	0
CHIA	27159	broad.mit.edu	37	1	111858014	111858014	+	Missense_Mutation	SNP	G	A	A	rs142253415		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:111858014G>A	uc001eas.3	+	5	594	c.437G>A	c.(436-438)gGg>gAg	p.G146E	CHIA_uc001ear.3_Missense_Mutation_p.G38E|CHIA_uc001eaq.3_Missense_Mutation_p.G38E|CHIA_uc009wgc.3_Missense_Mutation_p.G38E|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	146					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GGCTCTCGTGGGAGCCCTCCT	0.527000														30			7		0	0	0.00198382	0	0
MYCN	4613	broad.mit.edu	37	2	16085739	16085739	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:16085739C>T	uc002rci.3	+	2	1215	c.915C>T	c.(913-915)aaC>aaT	p.N305N	MYCN_uc010yjr.2_Silent_p.N305N	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	305					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GTCCCAAGAACGCAGCCCTGG	0.592000			A		neuroblastoma									17			9		0	0	0.000274275	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778627	5778627	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:5778627G>A	uc002mda.3	+	21	2398	c.2337G>A	c.(2335-2337)agG>agA	p.R779R		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	779						integral to membrane											CCACAGCCAGGGCAGGCACAG	0.627000														30			23		0	0	0.000720815	0	0
CTCFL	140690	broad.mit.edu	37	20	56083724	56083724	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:56083724C>T	uc010giw.1	-	8	1723	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	CTCFL_uc010gix.1_Missense_Mutation_p.D538N|CTCFL_uc002xym.2_Missense_Mutation_p.D538N|CTCFL_uc010gjb.1_Missense_Mutation_p.D538N|CTCFL_uc010gja.1_Missense_Mutation_p.D488N|CTCFL_uc010gjc.1_Missense_Mutation_p.D538N|CTCFL_uc010gjd.1_Missense_Mutation_p.D538N|CTCFL_uc010gje.3_Missense_Mutation_p.D538N|CTCFL_uc010gjg.3_Missense_Mutation_p.D270N|CTCFL_uc010gjf.3_Missense_Mutation_p.D333N|CTCFL_uc010gjh.2_Missense_Mutation_p.D394N|CTCFL_uc010gji.2_Missense_Mutation_p.D333N|CTCFL_uc010gjj.2_Missense_Mutation_p.D538N|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	538					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AAATTTGCATCGTGGTATTTC	0.443000														133			58		0	0	0.00361006	0	0
OR6C70	390327	broad.mit.edu	37	12	55863228	55863228	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:55863228T>A	uc010spn.2	-	0	695	c.695A>T	c.(694-696)aAg>aTg	p.K232M		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGCTTTCTTCTTTTGCTGAGC	0.358000														20			65		0	0	0.00361006	0	0
LOC399815	399815	broad.mit.edu	37	10	124647794	124647794	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:124647794C>T	uc001lgu.3	+	6	1061	c.163C>T	c.(163-165)Cct>Tct	p.P55S	LOC399815_uc010qua.1_Missense_Mutation_p.P17S					Homo sapiens chromosome 10 open reading frame 88 pseudogene (LOC399815), non-coding RNA.																		GAATTGTATTCCTATTGAAGA	0.363000														3			10		0	0	0.000673444	0	0
POTEE	445582	broad.mit.edu	37	2	132021517	132021517	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:132021517C>T	uc002tsn.2	+	14	2541	c.2489C>T	c.(2488-2490)cCa>cTa	p.P830L	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.P430L|POTEE_uc002tsl.2_Missense_Mutation_p.P412L|POTEE_uc010fmy.1_Missense_Mutation_p.P294L	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	830	Actin-like.						ATP binding										TTCAACACCCCAGCCATGTAC	0.622000														113			56		0	0	0.00361006	0	0
HTA	283902	broad.mit.edu	37	16	73126985	73126985	+	RNA	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:73126985C>G	uc010vmq.2	+	1		c.643C>G								Homo sapiens uncharacterized LOC283902 (HTA), non-coding RNA.																		CCCAGAGATCCCTTCATTCTT	0.463000														44			16		0	0	0.00400662	0	0
MOB3A	126308	broad.mit.edu	37	19	2073401	2073401	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:2073401C>G	uc002luu.3	-	2	806	c.647G>C	c.(646-648)tGc>tCc	p.C216S	MOB3A_uc002luv.3_Missense_Mutation_p.C216S	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	216						intracellular	metal ion binding										CTCTCAGTGGCACATCCGGGC	0.617000														126			5		0	0	0.00116845	0	0
FAM129A	116496	broad.mit.edu	37	1	184787864	184787864	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:184787864C>G	uc001gra.3	-	8	1275	c.1081G>C	c.(1081-1083)Gga>Cga	p.G361R	FAM129A_uc001grb.1_Missense_Mutation_p.G124R|FAM129A_uc009wyh.1_Missense_Mutation_p.G189R|FAM129A_uc009wyi.1_Missense_Mutation_p.G159R	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCACTGAATCCCGAGCTCACT	0.537000														153			15		0	0	0.00316338	0	0
TEP1	7011	broad.mit.edu	37	14	20852664	20852664	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:20852664G>A	uc001vxe.3	-	22	3265	c.3225C>T	c.(3223-3225)taC>taT	p.Y1075Y	TEP1_uc010ahk.3_Silent_p.Y425Y|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.Y967Y|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1075					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACTCACAGGGGTATCTGTGGG	0.597000														22			86		0	0	0.00361006	0	0
ZNF804A	91752	broad.mit.edu	37	2	185798449	185798449	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:185798449G>T	uc002uph.3	+	2	969	c.375G>T	c.(373-375)aaG>aaT	p.K125N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	125						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGCTAAGAAAGGAAACTGTAT	0.393000														8			6		0.000157383	0.000413571	0.00307968	1	0
PRPF31	26121	broad.mit.edu	37	19	54625309	54625309	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54625309C>T	uc002qdh.2	+	3	705	c.309C>T	c.(307-309)atC>atT	p.I103I	PRPF31_uc010yek.1_Silent_p.I103I|PRPF31_uc021vbi.1_Silent_p.I103I	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	103					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCGTGGAGATCGAAAACGAGC	0.637000														7			4		0	0	0.00024832	0	0
NLRP10	338322	broad.mit.edu	37	11	7981881	7981881	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:7981881G>A	uc001mfv.1	-	1	1295	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	426	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTCAAATAGGAACCTCTGGT	0.542000														46			31		0	0	0.00283554	0	0
NBR1	4077	broad.mit.edu	37	17	41341720	41341720	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:41341720C>T	uc010whv.2	+	7	679	c.596C>T	c.(595-597)aCt>aTt	p.T199I	NBR1_uc010czd.3_Missense_Mutation_p.T199I|NBR1_uc010diz.3_Missense_Mutation_p.T199I|NBR1_uc010whu.2_Missense_Mutation_p.T199I|NBR1_uc010whw.2_Missense_Mutation_p.T178I|NBR1_uc010whx.1_5'Flank	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	199					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCAATGCCTACTTCAGAAGAA	0.443000														28			55		0	0	0.00361006	0	0
ADD2	119	broad.mit.edu	37	2	70904955	70904955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:70904955C>T	uc021vjc.1	-	11	1703	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.E480K|ADD2_uc002sgz.3_Missense_Mutation_p.E480K|ADD2_uc010fdt.2_Missense_Mutation_p.E480K|ADD2_uc002shc.2_Missense_Mutation_p.E480K|ADD2_uc010fdu.2_Missense_Mutation_p.E496K	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	480					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTGGGTTTTCGATGCGAATC	0.517000														27			14		0	0	0.00244969	0	0
ZIC1	7545	broad.mit.edu	37	3	147128015	147128015	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:147128015C>T	uc003ewe.3	+	0	835	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	39					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCATCAACCCGTTCGCCGAC	0.711000														6			15		0	0	0.00074312	0	0
PRKAR1B	5575	broad.mit.edu	37	7	590235	590235	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:590235C>T	uc003siu.2	-	10	1111	c.978G>A	c.(976-978)gaG>gaA	p.E326E	PRKAR1B_uc021zyi.1_Silent_p.E326E|PRKAR1B_uc003siv.3_Silent_p.E326E|PRKAR1B_uc021zyj.1_Silent_p.E326E|PRKAR1B_uc021zyk.1_Silent_p.E326E|PRKAR1B_uc003siw.2_Silent_p.E326E	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	326					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GCAGTGCAATCTCCCCTGGGG	0.667000														14			12		0	0	0.00316338	0	0
PCDH18	54510	broad.mit.edu	37	4	138453044	138453044	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:138453044G>A	uc003ihe.4	-	0	586	c.199C>T	c.(199-201)Cga>Tga	p.R67*	PCDH18_uc003ihf.4_Nonsense_Mutation_p.R60*|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	67	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCATGGCTCGAAATCGAACA	0.433000														19			38		0	0	0.00428921	0	0
PCSK5	5125	broad.mit.edu	37	9	78682956	78682956	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:78682956G>A	uc004akc.2	+	5	1256	c.718G>A	c.(718-720)Gga>Aga	p.G240R	PCSK5_uc004ajy.2_Missense_Mutation_p.G240R|PCSK5_uc004ajz.3_Missense_Mutation_p.G240R|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	240	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGCCAAGATCGGAGGTATGGG	0.502000														33			27		0	0	0.00395357	0	0
OR5B21	219968	broad.mit.edu	37	11	58275155	58275155	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:58275155G>A	uc010rki.2	-	0	424	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGTAGCAAGGAGGGCACAC	0.512000														24			13		0	0	0.00185496	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706545	128706545	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:128706545G>A	uc003elj.4	-	3	777	c.581C>T	c.(580-582)aCt>aTt	p.T194I	KIAA1257_uc003elg.1_Missense_Mutation_p.T194I|KIAA1257_uc003eli.4_Missense_Mutation_p.T82I	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	194										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTTGTCTTTAGTGTTCCAGAG	0.403000														86			6		0	0	0.00116845	0	0
SRBD1	55133	broad.mit.edu	37	2	45801787	45801787	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:45801787G>C	uc002rus.3	-	7	1224	c.1148C>G	c.(1147-1149)aCg>aGg	p.T383R		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	383					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			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)			GAAGTCAAGCGTGTCTTTGTC	0.393000														75			8		0	0	0.000274275	0	0
BRI3BP	140707	broad.mit.edu	37	12	125509542	125509542	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:125509542A>T	uc001uha.1	+	2	465	c.322A>T	c.(322-324)Aac>Tac	p.N108Y	DL490908_uc021rgk.1_5'Flank	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	Homo sapiens BRI3 binding protein (BRI3BP), mRNA.	108						integral to membrane|mitochondrial outer membrane				large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		CGCAGTCTCCAACCTGTCCCA	0.607000														22			6		0	0	0.00198382	0	0
ZNF227	7770	broad.mit.edu	37	19	44738927	44738927	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:44738927C>T	uc002oyu.3	+	5	549	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ZNF227_uc010xwu.2_Missense_Mutation_p.S64F|ZNF227_uc002oyv.3_Missense_Mutation_p.S115F|ZNF227_uc010xwv.2_Missense_Mutation_p.S64F|ZNF227_uc010xww.2_Missense_Mutation_p.S36F|ZNF227_uc002oyw.3_Missense_Mutation_p.S87F|ZNF227_uc010ejh.3_Missense_Mutation_p.S108F|ZNF235_uc002oyx.1_Non-coding_Transcript	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CAAGAGCTGTCCTGCTGGCAA	0.368000														56			19		0	0	0.00152264	0	0
LPAL2	80350	broad.mit.edu	37	6	160898196	160898196	+	RNA	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:160898196G>A	uc003qtj.2	-	8		c.1470C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TCTGATGCCGGTGTGGTGTCA	0.473000														11			22		0	0	0.0024448	0	0
TJP3	27134	broad.mit.edu	37	19	3738625	3738625	+	Missense_Mutation	SNP	G	A	A	rs150612107	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:3738625G>A	uc010xhv.2	+	10	1456	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	TJP3_uc010xhs.2_Missense_Mutation_p.E453K|TJP3_uc010xht.2_Missense_Mutation_p.E417K|TJP3_uc010xhu.2_Missense_Mutation_p.E462K|TJP3_uc010xhw.2_Missense_Mutation_p.E472K	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	467						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACCAGGCGAGGAGATGGA	0.607000														54			42		0	0	0.00361006	0	0
GNAS	2778	broad.mit.edu	37	20	57415482	57415482	+	Silent	SNP	C	T	T	rs148910090		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57415482C>T	uc021wfl.1	+	0	688	c.321C>T	c.(319-321)ttC>ttT	p.F107F	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.F107F|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	120					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGAAGAGTTCGACTACGAGA	0.617000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				33			24		0	0	0.00278032	0	0
SRRM4	84530	broad.mit.edu	37	12	119592147	119592147	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:119592147G>A	uc001txa.2	+	11	1879	c.1491G>A	c.(1489-1491)cgG>cgA	p.R497R		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	497	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAAAGCGCCGGAGAGACTCCC	0.642000														10			5		0	0	0.00116845	0	0
KLB	152831	broad.mit.edu	37	4	39439453	39439453	+	Silent	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:39439453G>C	uc003gua.3	+	2	1540	c.1443G>C	c.(1441-1443)gtG>gtC	p.V481V	KLB_uc011byj.2_Silent_p.V481V	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	481	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TATTTTATGTGGATTTTAACA	0.413000														10			44		0	0	0.0025221	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581341	234581341	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:234581341G>A	uc002vus.3	+	0	798	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R254Q	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	257					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R254Q(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGTTGTTGCGAACGGACTTT	0.443000														134			88		0	0	0.00361006	0	0
CALCA	796	broad.mit.edu	37	11	14992716	14992717	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:14992716_14992717GG>AA	uc001mlv.1	-	1	73_74	c.22_23CC>TT	c.(22-24)ccc>TTc	p.P8F	CALCA_uc001mlt.2_Missense_Mutation_p.P8F|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.P8F	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	8					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGCCAGGAAGGGGGAGAACTTT	0.550000														27			22		0	0	6.4e-05	0	0
DSP	1832	broad.mit.edu	37	6	7583117	7583117	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:7583117G>A	uc003mxp.1	+	23	5901	c.5622G>A	c.(5620-5622)aaG>aaA	p.K1874K	DSP_uc003mxq.1_Silent_p.K1275K|DSP_uc021yle.1_Silent_p.K1431K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1874	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)		ATTCCCGCAAGGAGGAGGCTA	0.453000														48			54		0	0	0.00361006	0	0
CSMD1	64478	broad.mit.edu	37	8	3166002	3166002	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:3166002C>T	uc022aqr.1	-	23	4045	c.3655G>A	c.(3655-3657)Gat>Aat	p.D1219N	CSMD1_uc011kwj.2_Missense_Mutation_p.D612N|CSMD1_uc003wqe.3_Missense_Mutation_p.D376N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1220	Sushi 7.					integral to membrane		p.D948H(1)|p.D1219H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGCCCGGATCCTCACATTTT	0.478000														4			5		0	0	0.000602214	0	0
NPSR1	387129	broad.mit.edu	37	7	34851420	34851420	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:34851420C>T	uc003teh.1	+	3	551	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.S141S|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.S141S|NPSR1_uc010kww.1_Silent_p.S130S|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	141						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCTGGTGTCCCTCAGCATAG	0.488000														77			77		0	0	0.00361006	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704037	68704037	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:68704037C>G	uc001ook.1	+	12	2191	c.2089C>G	c.(2089-2091)Ccg>Gcg	p.P697A	IGHMBP2_uc001ool.1_Missense_Mutation_p.P321A|IGHMBP2_uc001oom.1_Missense_Mutation_p.P275A	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	697					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGGAAGAAGCCGGCTGGGAA	0.667000														16			3		0	0	0.00024832	0	0
NLRP2	55655	broad.mit.edu	37	19	55496452	55496452	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55496452G>A	uc021vbq.1	+	6	2179	c.2068G>A	c.(2068-2070)Gac>Aac	p.D690N	NLRP2_uc010yfp.2_Missense_Mutation_p.D667N|NLRP2_uc002qij.3_Missense_Mutation_p.D690N|NLRP2_uc010esp.3_Missense_Mutation_p.D668N|NLRP2_uc010esn.3_Missense_Mutation_p.D666N|NLRP2_uc010eso.3_Missense_Mutation_p.D687N	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	690					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTGGACGGACCTTTGTTC	0.438000														45			28		0	0	0.00283554	0	0
PTPRH	5794	broad.mit.edu	37	19	55715387	55715387	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55715387C>T	uc002qjq.3	-	4	722	c.649G>A	c.(649-651)Gag>Aag	p.E217K	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.E224K	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	217	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GTCTGAGCCTCCACTCTCAGG	0.542000														31			10		0	0	0.000673444	0	0
LRP1B	53353	broad.mit.edu	37	2	141806669	141806669	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:141806669G>A	uc002tvj.1	-	10	2647	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	559					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P558P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTAAAGCACGAGGGTTTACC	0.433000										TSP Lung(27;0.18)				82			33		0	0	0.00148497	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443851	5443851	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:5443851G>A	uc010qzd.2	+	0	511	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCACCAATGAAGTCATTGG	0.507000														113			46		0	0	0.00361006	0	0
APCS	325	broad.mit.edu	37	1	159558295	159558295	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:159558295G>A	uc001ftv.3	+	1	565	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	157	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GCAGGAACAGGATTCCTATGG	0.498000														19			29		0	0	0.00127121	0	0
SEMA6C	10500	broad.mit.edu	37	1	151110270	151110270	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:151110270G>T	uc001ewv.3	-	9	1009	c.673C>A	c.(673-675)Cac>Aac	p.H225N	SEMA6C_uc001ewu.3_Missense_Mutation_p.H225N|SEMA6C_uc001eww.3_Missense_Mutation_p.H185N|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	225	Sema.					integral to membrane	receptor activity	p.H225L(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGACAAAGTGTGGCTCTAAG	0.547000														15			23		7.87624e-14	2.12749e-13	0.00278032	1	0
KCTD13	253980	broad.mit.edu	37	16	29937338	29937338	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:29937338G>A	uc002duv.3	-	0	208	c.17C>T	c.(16-18)tCg>tTg	p.S6L	BOLA2_uc010bzb.1_Intron|KCTD13_uc021tge.1_Non-coding_Transcript	NM_178863	NP_849194	Q8WZ19	BACD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 13 (KCTD13), mRNA.	6					DNA replication|cell migration|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						AGCCGGGCCCGAGGCCTCCGC	0.771000														0			10		0	0	0.000673444	0	0
CHST14	113189	broad.mit.edu	37	15	40763707	40763707	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40763707G>C	uc001zlw.3	+	0	548	c.295G>C	c.(295-297)Gac>Cac	p.D99H		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	99					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CAGGGCTGGGGACGCGGACTT	0.746000														10			9		0	0	0.000442599	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149003603	149003603	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:149003603C>T	uc003lra.1	+	9	1428	c.1364C>T	c.(1363-1365)gCc>gTc	p.A455V		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	455	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCAGAGCCTGCCTTCAGGAAG	0.582000														37			11		0	0	0.000673444	0	0
POF1B	79983	broad.mit.edu	37	X	84560826	84560826	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:84560826C>T	uc004eer.2	-	12	1554	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K	POF1B_uc004ees.3_Missense_Mutation_p.E470K	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	470							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CTATCTTTCTCCATTCTCAAG	0.423000														13			19		0	0	0.000958276	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935929	94935929	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:94935929G>A	uc001ydf.3	-	1	464	c.303C>T	c.(301-303)tcC>tcT	p.S101S	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Silent_p.S65S|SERPINA9_uc001ydh.1_Silent_p.S101S|SERPINA9_uc001ydi.1_Silent_p.S65S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	83					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGGCCCCAAGGGAGAGCATGG	0.587000														12			18		0	0	0.00121646	0	0
SH2B3	10019	broad.mit.edu	37	12	111884982	111884982	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:111884982C>T	uc001tsf.3	+	3	1010	c.983C>T	c.(982-984)aCg>aTg	p.T328M	SH2B3_uc001tse.3_Missense_Mutation_p.T327M|SH2B3_uc010syf.2_Missense_Mutation_p.T327M|SH2B3_uc010syg.2_Missense_Mutation_p.T125M	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	327					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GAGCCTAGCACGTCCAGCTCC	0.567000														30			20		0	0	0.00121646	0	0
PSD4	23550	broad.mit.edu	37	2	113956458	113956458	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:113956458C>T	uc002tjc.3	+	14	2949	c.2766C>T	c.(2764-2766)tcC>tcT	p.S922S	PSD4_uc002tjd.3_Silent_p.S542S|PSD4_uc002tje.3_Silent_p.S892S|PSD4_uc002tjf.3_Silent_p.S543S|PSD4_uc002tjg.3_Silent_p.S88S|PSD4_uc010yxs.2_Silent_p.S152S|PSD4_uc002tjh.3_Silent_p.S43S	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	922					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCAGAGCTCCCTGGTACGGC	0.736000														2			6		0	0	0.00116845	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422960	37422960	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:37422960C>T	uc021ppc.1	+	4	665	c.566C>T	c.(565-567)gCt>gTt	p.A189V	ANKRD30A_uc001iza.1_Missense_Mutation_p.A189V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	245						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAACATTATGCTGTTACTTGT	0.378000														26			75		0	0	0.00361006	0	0
FAT2	2196	broad.mit.edu	37	5	150932750	150932750	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:150932750A>G	uc003lue.4	-	4	4157	c.4144T>C	c.(4144-4146)Ttc>Ctc	p.F1382L		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1382	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGATGTTGAACCAGAAGAGT	0.547000														26			22		0	0	0.00395357	0	0
WDR72	256764	broad.mit.edu	37	15	53908113	53908113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:53908113C>T	uc002acj.2	-	14	2332	c.2290G>A	c.(2290-2292)Gat>Aat	p.D764N	WDR72_uc010bfi.1_Missense_Mutation_p.D764N	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	764										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAATGCCATCATTTTCTTCT	0.408000														41			27		0	0	0.000720815	0	0
MYPN	84665	broad.mit.edu	37	10	69934200	69934200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:69934200C>T	uc001jnm.4	+	11	2536	c.2351C>T	c.(2350-2352)cCa>cTa	p.P784L	MYPN_uc001jnn.4_Missense_Mutation_p.P509L|MYPN_uc001jno.4_Missense_Mutation_p.P784L|MYPN_uc009xpt.3_Missense_Mutation_p.P784L|MYPN_uc010qit.2_Missense_Mutation_p.P490L|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	784	Pro-rich.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAAAATGAGCCACTCCCACCA	0.522000														8			25		0	0	0.00332997	0	0
TTN	7273	broad.mit.edu	37	2	179428628	179428628	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179428628C>T	uc021vsy.1	-	274	74752	c.74527G>A	c.(74527-74529)Gag>Aag	p.E24843K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E18538K|TTN_uc021vta.1_Missense_Mutation_p.E18471K|TTN_uc021vtb.1_Missense_Mutation_p.E18346K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25770							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)			CGGCTTGTCTCCCTCTTTTCA	0.428000														59			43		0	0	0.00361006	0	0
UBL7	84993	broad.mit.edu	37	15	74740848	74740848	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:74740848G>A	uc002axw.1	-	9	1138	c.976C>T	c.(976-978)Ctt>Ttt	p.L326F	UBL7_uc002axx.1_Missense_Mutation_p.L366F|UBL7_uc002axy.1_Missense_Mutation_p.L326F|UBL7_uc002axz.1_Missense_Mutation_p.L326F	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	326							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GAGGCCTGAAGGGCATGCTGT	0.547000														55			58		0	0	0.00361006	0	0
HEATR8	374977	broad.mit.edu	37	1	55175737	55175737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:55175737G>A	uc010ooe.1	+	23	4173	c.3849G>A	c.(3847-3849)tgG>tgA	p.W1283*	HEATR8_uc001cxq.3_Intron|HEATR8_uc010ood.1_Nonsense_Mutation_p.W801*|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Nonsense_Mutation_p.W484*	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1283						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGAACTCATGGGTGTGTTACT	0.632000														16			11		0	0	0.000978159	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396400	22396400	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:22396400A>G	uc001mqk.3	+	8	1554	c.1141A>G	c.(1141-1143)Act>Gct	p.T381A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	381					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATTCTTTCAACTACGACAGT	0.378000														65			55		0	0	0.00361006	0	0
CROCC	9696	broad.mit.edu	37	1	17292503	17292504	+	Missense_Mutation	DNP	CG	AC	AC			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:17292503_17292504CG>AC	uc001azt.2	+	28	4654_4655	c.4585_4586CG>AC	c.(4585-4587)cgg>ACg	p.R1529T	CROCC_uc001azu.2_Missense_Mutation_p.R832T|CROCC_uc001azv.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1529					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACGAACTTCGGACCCAGACC	0.649000														28			11		0	0	6.4e-05	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45501879	45501879	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:45501879C>T	uc001cnd.2	-	8	2215	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	663							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGTGCAACTTCCAGGGCCAAT	0.552000														22			25		0	0	0.00278032	0	0
TRPM1	4308	broad.mit.edu	37	15	31354898	31354898	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:31354898T>C	uc021sia.1	-	7	1338	c.1024A>G	c.(1024-1026)Aat>Gat	p.N342D	TRPM1_uc010azy.3_Missense_Mutation_p.N210D|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.N325D|TRPM1_uc001zfm.3_Missense_Mutation_p.N303D	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	303					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.L341L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGGACTCATTTATTATTCTG	0.333000														25			20		0	0	0.00121646	0	0
CC2D2B	387707	broad.mit.edu	37	10	97779035	97779035	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:97779035A>G	uc010qop.2	+	7	830	c.598A>G	c.(598-600)Aag>Gag	p.K200E	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.K200E	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	200										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCAATGTTATAAGCAGTTTGA	0.333000														11			31		0	0	0.00178596	0	0
C9orf96	169436	broad.mit.edu	37	9	136268823	136268823	+	Splice_Site	SNP	G	A	A	rs150641045		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:136268823G>A	uc004cdk.3	+	15	1536	c.1475_splice	c.e15-1	p.G492_splice	C9orf96_uc004cdl.3_Splice_Site	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	492							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTCGTTCCAGGTATCATTGT	0.612000														5			5		0	0	0.000602214	0	0
GMDS	2762	broad.mit.edu	37	6	2116044	2116044	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:2116044G>A	uc003mtq.3	-	3	518	c.306C>T	c.(304-306)ccC>ccT	p.P102P	GMDS_uc021ykn.1_Silent_p.P72P	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	102					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AGATCTCTGTGGGCTTTACTT	0.428000														71			105		0	0	0.00361006	0	0
FLG	2312	broad.mit.edu	37	1	152280668	152280668	+	Missense_Mutation	SNP	C	A	A	rs143075913		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:152280668C>A	uc001ezu.1	-	2	6730	c.6694G>T	c.(6694-6696)Ggg>Tgg	p.G2232W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2232	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGGGCCCTGATGATTGT	0.587000									Ichthyosis					103			40		3.05275e-18	8.27309e-18	0.00321405	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140720640	140720641	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140720640_140720641CC>TT	uc003ljk.2	+	0	2287_2288	c.2102_2103CC>TT	c.(2101-2103)tcc>tTT	p.S701F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.S701F|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	702					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCGGTCTCCTGCGTCTTCC	0.658000														57			50		0	0	6.4e-05	0	0
ZNF804A	91752	broad.mit.edu	37	2	185731203	185731203	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:185731203C>G	uc002uph.3	+	1	813	c.219C>G	c.(217-219)gaC>gaG	p.D73E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	73						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGGAGTTTGACAATCACATTA	0.368000														33			6		0	0	0.00198382	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:70946612C>T	uc001swb.4	-	18	4708	c.4678G>A	c.(4678-4680)Gat>Aat	p.D1560N	PTPRB_uc010sto.2_Missense_Mutation_p.D1470N|PTPRB_uc010stp.2_Missense_Mutation_p.D1470N|PTPRB_uc001swc.4_Missense_Mutation_p.D1778N|PTPRB_uc001swa.4_Missense_Mutation_p.D1690N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1560					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGTGGGATCGCATTTTCCA	0.423000														17			33		0	0	0.00209593	0	0
PLD3	23646	broad.mit.edu	37	19	40883999	40883999	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:40883999C>T	uc002onm.4	+	12	1790	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	PLD3_uc002onj.4_Silent_p.F464F|PLD3_uc002onn.3_Silent_p.F464F	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	464					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	p.F411F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AGGCCATTTTCCTGAGGGACT	0.652000														72			45		0	0	0.00361006	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184404	130184404	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:130184404A>T	uc009zyl.1	-	1	1247	c.919T>A	c.(919-921)Ttt>Att	p.F307I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	307						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GAAACAGGAAAAGTCAGCACG	0.512000														14			5		0	0	0.000602214	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490280	150490280	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:150490280G>A	uc022apx.1	-	3	622	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	TMEM176B_uc003whu.4_Missense_Mutation_p.R166C|TMEM176B_uc003whv.4_Missense_Mutation_p.R129C|TMEM176B_uc003whw.4_Missense_Mutation_p.R166C	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCTGAGCGATCACACACA	0.507000														29			100		0	0	0.00361006	0	0
FZR1	51343	broad.mit.edu	37	19	3525944	3525944	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:3525944C>T	uc010dtk.2	+	1	182	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	FZR1_uc002lxt.2_Missense_Mutation_p.P50S|FZR1_uc002lxv.2_Missense_Mutation_p.P50S	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	50					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding	p.P50H(1)		endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCTTCATCCCCTCCAGAGC	0.667000														10			7		0	0	0.000274275	0	0
PAXIP1	22976	broad.mit.edu	37	7	154785460	154785460	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:154785460G>A	uc022aqg.1	-	2	279	c.236C>T	c.(235-237)tCc>tTc	p.S79F	PAXIP1_uc022aqf.1_Missense_Mutation_p.S79F|PAXIP1_uc022aqh.1_5'UTR|PAXIP1_uc022aqi.1_Intron	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	79	BRCT 1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACACTGAACGGACAGAATCAC	0.363000														4			21		0	0	0.00278032	0	0
CNTF	1270	broad.mit.edu	37	11	58391965	58391965	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:58391965C>T	uc001nna.4	+	1	653	c.573C>T	c.(571-573)agC>agT	p.S191S	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	191					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CACGTGGGAGCCATTATATTG	0.473000														37			11		0	0	0.000978159	0	0
MARK4	57787	broad.mit.edu	37	19	45768122	45768122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:45768122C>T	uc002pbb.2	+	5	777	c.446C>T	c.(445-447)tCg>tTg	p.S149L	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.S149L|MARK4_uc002pbc.1_Missense_Mutation_p.S15L	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	149	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TACCTCGTGTCGCATGGCCGC	0.677000														46			39		0	0	0.00170553	0	0
AKR1B15	441282	broad.mit.edu	37	7	134253003	134253003	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:134253003G>C	uc011kpr.2	+	3	543	c.244G>C	c.(244-246)Gag>Cag	p.E82Q		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	82							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GAATCAACATGAGGTGGGAGA	0.498000														141			31		0	0	0.001512	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602565	64602565	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64602565C>T	uc001obs.4	-	16	2014	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	672					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CTCTCCGTCTCCCGCCGCTCA	0.706000														17			10		0	0	0.000978159	0	0
STRAP	11171	broad.mit.edu	37	12	16050834	16050834	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:16050834C>T	uc010shw.2	+	7	1050	c.696C>T	c.(694-696)tcC>tcT	p.S232S	STRAP_uc001rdc.4_Silent_p.S219S|STRAP_uc001rdd.4_Silent_p.S125S	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	219					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CAATTAAATCCTTTGAAGCTC	0.303000														17			35		0	0	0.00111076	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726754	32726754	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:32726754G>A	uc003obz.2	-	2	602	c.519C>T	c.(517-519)tcC>tcT	p.S173S	HLA-DQB2_uc003oby.4_Silent_p.S173S	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	173					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TCCTAATGAGGGAGGTGGACA	0.552000														7			16		0	0	0.000566183	0	0
MPO	4353	broad.mit.edu	37	17	56357233	56357233	+	Missense_Mutation	SNP	G	A	A	rs147998181	by1000genomes	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:56357233G>A	uc002ivu.1	-	2	568	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	131					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.R131L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CACAGGGACCGCAGCTTCCTC	0.622000														23			20		0	0	0.00278032	0	0
RBM46	166863	broad.mit.edu	37	4	155719361	155719361	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:155719361C>T	uc003ioo.3	+	2	723	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	RBM46_uc011cim.1_Missense_Mutation_p.R184C|RBM46_uc003iop.1_Missense_Mutation_p.R184C	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	184	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GACCAAAAATCGTGGTTTTGC	0.348000														7			16		0	0	0.000958276	0	0
RAVER2	55225	broad.mit.edu	37	1	65243530	65243530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:65243530C>T	uc001dbt.2	+	0	225	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	RAVER2_uc001dbs.2_Missense_Mutation_p.H181Y|RAVER2_uc010opb.2_Missense_Mutation_p.H60Y	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	181						cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGTTACTGGCCATTCCAAAGG	0.413000														43			55		0	0	0.00361006	0	0
CHSY1	22856	broad.mit.edu	37	15	101717867	101717867	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:101717867G>A	uc021sxt.1	-	2	2611	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	CHSY1_uc010usd.2_Missense_Mutation_p.S440F	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	712					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCTTGGATGGAAACATCAAA	0.488000														84			49		0	0	0.00361006	0	0
BCAS3	54828	broad.mit.edu	37	17	59112107	59112107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:59112107C>T	uc002iyv.4	+	17	1872	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	BCAS3_uc010wow.1_Missense_Mutation_p.S360F|BCAS3_uc002iyu.4_Missense_Mutation_p.S573F|BCAS3_uc002iyw.4_Missense_Mutation_p.S569F|BCAS3_uc002iyy.4_Missense_Mutation_p.S344F|BCAS3_uc002iyz.4_Missense_Mutation_p.S142F|BCAS3_uc002iza.4_Missense_Mutation_p.S127F	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	588						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCGGAACATCCAGGTCATGG	0.353000														42			30		0	0	0.00375469	0	0
ZNF211	10520	broad.mit.edu	37	19	58152816	58152816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58152816C>T	uc002qpr.2	+	5	1457	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	ZNF211_uc010yhb.1_Missense_Mutation_p.S325L|ZNF211_uc002qpp.2_Missense_Mutation_p.S334L|ZNF211_uc002qpq.2_Missense_Mutation_p.S321L|ZNF211_uc002qpt.2_Missense_Mutation_p.S333L|ZNF211_uc010yhc.1_Missense_Mutation_p.S333L|ZNF211_uc010yhe.1_Missense_Mutation_p.S312L|ZNF211_uc010yhd.1_Missense_Mutation_p.S260L	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	321						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGGGAAATCGTTTAGTCAG	0.413000														23			27		0	0	0.000878237	0	0
BIK	638	broad.mit.edu	37	22	43520119	43520119	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:43520119G>A	uc003bdk.3	+	1	154	c.91G>A	c.(91-93)Ggc>Agc	p.G31S		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	31					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGAGGTTCTTGGCATGACTGA	0.557000														12			50		0	0	0.00361006	0	0
MACC1	346389	broad.mit.edu	37	7	20197851	20197851	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:20197851C>T	uc003sus.4	-	4	2442	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	MACC1_uc010kug.3_Silent_p.R711R	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	711					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGAAACTTCCTTGTATTTC	0.318000														48			48		0	0	0.00361006	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:99012478C>T	uc010fij.3	+	7	998	c.857C>T	c.(856-858)tCc>tTc	p.S286F	CNGA3_uc002syt.3_Missense_Mutation_p.S282F|CNGA3_uc002syu.3_Missense_Mutation_p.S264F			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000														21			20		0	0	0.000958276	0	0
DYDC2	84332	broad.mit.edu	37	10	82126485	82126485	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:82126485C>T	uc001kca.1	+	4	692	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Silent_p.F104F	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	104							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			AGACCATATTCATGCAGGAGG	0.433000														16			64		0	0	0.00361006	0	0
SENP7	57337	broad.mit.edu	37	3	101056363	101056363	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:101056363G>A	uc003dut.3	-	16	2581	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	SENP7_uc003duu.3_Missense_Mutation_p.P759S|SENP7_uc003duv.3_Missense_Mutation_p.P791S|SENP7_uc003duw.3_Missense_Mutation_p.P758S|SENP7_uc003dux.3_Missense_Mutation_p.P660S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	824	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAAAGATTTGGATTATCTTCT	0.303000														19			4		0	0	0.00024832	0	0
PCDHB2	56133	broad.mit.edu	37	5	140474676	140474676	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140474676C>A	uc003lil.3	+	0	440	c.302C>A	c.(301-303)aCa>aAa	p.T101K	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCGGCCCCACAGAGCCCTGT	0.478000														38			23		3.69857e-22	1.01234e-21	0.001512	1	0
HCK	3055	broad.mit.edu	37	20	30686836	30686836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:30686836C>T	uc002wxh.3	+	11	1513	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	HCK_uc010gdy.3_Missense_Mutation_p.P406S|HCK_uc021wbv.1_Missense_Mutation_p.P405S|HCK_uc002wxi.3_Missense_Mutation_p.P404S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	426	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGGACAGCTCCTGAAGCCAT	0.577000														70			10		0	0	0.000978159	0	0
FGD6	55785	broad.mit.edu	37	12	95531384	95531384	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:95531384T>A	uc001tdp.4	-	6	3132	c.2908A>T	c.(2908-2910)Atc>Ttc	p.I970F	FGD6_uc009zsx.3_Missense_Mutation_p.I103F|FGD6_uc001tdq.1_Missense_Mutation_p.I6F	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	970	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATTCTTTGATGTATGTGGAA	0.333000														48			8		0	0	0.000442599	0	0
ANGPT1	284	broad.mit.edu	37	8	108334269	108334269	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:108334269G>A	uc003ymn.3	-	3	1131	c.663C>T	c.(661-663)ggC>ggT	p.G221G	ANGPT1_uc011lhv.2_Silent_p.G21G|ANGPT1_uc003ymo.3_Silent_p.G221G|ANGPT1_uc003ymp.4_Silent_p.G21G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	221					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G221G(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GAGTAACCAAGCCTTGAAGGT	0.398000														27			23		0	0	0.00229938	0	0
GPR158	57512	broad.mit.edu	37	10	25886859	25886859	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:25886859G>A	uc001isj.3	+	10	2364	c.2304G>A	c.(2302-2304)caG>caA	p.Q768Q	GPR158_uc001isk.3_Silent_p.Q143Q	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	768						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R767L(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCAGCCGGCAGTGCTCTAAAG	0.567000														15			32		0	0	0.001512	0	0
SCN1A	6323	broad.mit.edu	37	2	166892656	166892656	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166892656G>A	uc002udo.4	-	17	3558	c.3331C>T	c.(3331-3333)Ctt>Ttt	p.L1111F	SCN1A_uc010fpk.3_Missense_Mutation_p.L1083F|SCN1A_uc021vsb.1_Missense_Mutation_p.L1100F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1111						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1110K(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTCACAGTAAGACTGGGGTTG	0.368000														58			34		0	0	0.000953801	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451399	22451399	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:22451399A>T	uc003zpp.1	+	1	1229	c.1004A>T	c.(1003-1005)aAg>aTg	p.K335M		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	335					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		ATCCTTACTAAGATTTTCCCA	0.463000														9			17		0	0	0.000566183	0	0
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:129453154C>T	uc011maa.2	+	2	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_uc004bqi.3_Silent_p.I122I|LMX1B_uc004bqj.3_Silent_p.I122I	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	99	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647000									Nail-Patella Syndrome					6			5		0	0	0.00198382	0	0
ZNF573	126231	broad.mit.edu	37	19	38230687	38230687	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:38230687T>G	uc002ohe.3	-	4	773	c.704A>C	c.(703-705)cAa>cCa	p.Q235P	ZNF573_uc010efs.2_Missense_Mutation_p.Q148P|ZNF573_uc002ohd.3_Missense_Mutation_p.Q233P|ZNF573_uc002ohf.3_Missense_Mutation_p.Q177P|ZNF573_uc002ohg.3_Missense_Mutation_p.Q147P|ZNF573_uc021utv.1_Missense_Mutation_p.Q147P	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCTCATGTTGAACAATGTG	0.443000														53			21		0	0	0.00188189	0	0
POF1B	79983	broad.mit.edu	37	X	84537296	84537296	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:84537296G>A	uc004eer.2	-	15	1823	c.1677C>T	c.(1675-1677)ggC>ggT	p.G559G	POF1B_uc004ees.3_Silent_p.G559G	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	559							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CATATAGGAGGCCTAGGATTG	0.378000														13			9		0	0	0.000673444	0	0
CCDC69	26112	broad.mit.edu	37	5	150563912	150563912	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:150563912G>A	uc003ltq.3	-	7	829	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	CCDC69_uc010jhu.3_Silent_p.L89L|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	236										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTGACAGGACCACCTGG	0.483000														25			24		0	0	0.00395357	0	0
WDR62	284403	broad.mit.edu	37	19	36592979	36592979	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36592979C>T	uc002odd.2	+	25	3237	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	WDR62_uc002odc.2_Missense_Mutation_p.S1049F	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1049					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCAGCAGCTCCCTACCCCAG	0.642000														49			22		0	0	0.00106085	0	0
OR2M5	127059	broad.mit.edu	37	1	248309128	248309128	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:248309128C>T	uc010pze.2	+	0	679	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGCTGTCATTCACATGGGATC	0.418000														151			25		0	0	0.00395357	0	0
FAM92B	339145	broad.mit.edu	37	16	85141473	85141473	+	Silent	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:85141473T>G	uc021tma.1	-	3	561	c.405A>C	c.(403-405)tcA>tcC	p.S135S	FAM92B_uc021tlz.1_Silent_p.S135S	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						GATCCGAGGGTGACTTCTGCC	0.493000														65			32		0	0	0.00327116	0	0
THADA	63892	broad.mit.edu	37	2	43805682	43805682	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:43805682C>T	uc002rsw.4	-	8	1138	c.786G>A	c.(784-786)atG>atA	p.M262I	THADA_uc002rsx.4_Missense_Mutation_p.M262I|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.M262I|THADA_uc002rtc.4_Missense_Mutation_p.M262I|THADA_uc002rtd.3_Missense_Mutation_p.M262I	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	262							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACGGGTGAAACATAGTCTTAA	0.323000														130			100		0	0	0.00361006	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209864	140209864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140209864G>A	uc003lho.2	+	0	2215	c.2188G>A	c.(2188-2190)Ggc>Agc	p.G730S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.G730S	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACCGAGGGCGCGTGCAC	0.682000														19			16		0	0	0.00400662	0	0
RABEP1	9135	broad.mit.edu	37	17	5264870	5264870	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:5264870C>T	uc002gbm.4	+	8	1687	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	RABEP1_uc010clc.1_Missense_Mutation_p.S481F|RABEP1_uc010cld.1_Missense_Mutation_p.S445F|RABEP1_uc010vsw.1_Missense_Mutation_p.S445F|RABEP1_uc002gbl.4_Missense_Mutation_p.S488F|NUP88_uc002gbn.3_Non-coding_Transcript	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	488					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGACAGCGTCCCTCCTCTCC	0.488000														19			21		0	0	0.00121646	0	0
MGAM	8972	broad.mit.edu	37	7	141755487	141755487	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:141755487G>A	uc003vwy.3	+	27	3498	c.3444G>A	c.(3442-3444)tgG>tgA	p.W1148*		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1148	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTGGAGTGGCACACTTGGG	0.552000														22			62		0	0	0.00361006	0	0
GK2	2712	broad.mit.edu	37	4	80328097	80328097	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:80328097G>A	uc003hlu.3	-	0	1276	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	420					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.R420C(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGCAAATGACGAAGTGGAATT	0.393000														14			43		0	0	0.00321405	0	0
OR6N1	128372	broad.mit.edu	37	1	158736160	158736160	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:158736160G>A	uc010piq.2	-	0	313	c.313C>T	c.(313-315)Cac>Tac	p.H105Y		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAAGGGAGTGAAAGAAATAG	0.512000														31			11		0	0	0.00185496	0	0
CUL9	23113	broad.mit.edu	37	6	43156281	43156281	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:43156281G>A	uc003ouk.3	+	7	2083	c.2008G>A	c.(2008-2010)Ggt>Agt	p.G670S	CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.3_Missense_Mutation_p.G670S|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_3'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	670					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTTGCGGGGTCCCGGTCC	0.532000														19			37		0	0	0.00128727	0	0
KIAA0319	9856	broad.mit.edu	37	6	24551677	24551677	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:24551677G>A	uc011djo.2	-	19	3525	c.3025C>T	c.(3025-3027)Ctg>Ttg	p.L1009L	KIAA0319_uc011djp.2_Silent_p.L964L|KIAA0319_uc003neh.1_Silent_p.L1009L|KIAA0319_uc011djq.1_Silent_p.L1000L|KIAA0319_uc011djr.1_Intron|KIAA0319_uc010jpt.1_Silent_p.L420L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	1009					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTGGGCCTCAGTTCCATTCTT	0.413000														14			21		0	0	0.00332997	0	0
GIF	2694	broad.mit.edu	37	11	59611429	59611429	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:59611429G>T	uc001noi.3	-	1	227	c.179C>A	c.(178-180)gCc>gAc	p.A60D	GIF_uc010rkz.1_Missense_Mutation_p.A60D	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	60					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CAGATTCATGGCAATCAGGAT	0.547000														21			10		2.74318e-10	7.36139e-10	0.000442599	1	0
LAMB3	3914	broad.mit.edu	37	1	209789894	209789894	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:209789894C>A	uc001hhg.3	-	20	3694	c.3304G>T	c.(3304-3306)Ggt>Tgt	p.G1102C	LAMB3_uc009xco.3_Missense_Mutation_p.G1102C|LAMB3_uc001hhh.3_Missense_Mutation_p.G1102C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1102	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATCCGGGCACCCTGCTCACCC	0.498000														54			81		1.04643e-32	2.87374e-32	0.00361006	1	0
FRG2B	441581	broad.mit.edu	37	10	135438925	135438925	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:135438925C>T	uc010qvg.2	-	3	568	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	172						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAAGCTTTTTCGAATTGACGG	0.562000														97			8		0	0	0.000978159	0	0
SAMD9	54809	broad.mit.edu	37	7	92730948	92730949	+	Nonsense_Mutation	DNP	CT	TA	TA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:92730948_92730949CT>TA	uc003umf.3	-	2	4732_4733	c.4462_4463AG>TA	c.(4462-4464)aga>TAa	p.R1488*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R1488*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R1488*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1488						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCCAGTCTTTTACCTTTT	0.371000														7			40		0	0	6.4e-05	0	0
ZNF418	147686	broad.mit.edu	37	19	58437907	58437907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58437907G>A	uc002qqs.1	-	3	1934	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.H463Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAGCTCTGATGAAATGACTTT	0.448000														38			21		0	0	0.00332997	0	0
SLC44A5	204962	broad.mit.edu	37	1	75805306	75805306	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:75805306C>T	uc010oqz.1	-	2	245	c.179G>A	c.(178-180)aGg>aAg	p.R60K	SLC44A5_uc001dgt.2_Missense_Mutation_p.R21K|SLC44A5_uc001dgs.2_5'UTR|SLC44A5_uc001dgr.2_5'UTR|SLC44A5_uc001dgu.3_Missense_Mutation_p.R21K|SLC44A5_uc010ora.2_Missense_Mutation_p.R15K|SLC44A5_uc010orb.2_5'UTR	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	21						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTCATATGTCCTTGGATCACC	0.323000														183			65		0	0	0.00361006	0	0
FLVCR1	28982	broad.mit.edu	37	1	213037186	213037186	+	Silent	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:213037186A>G	uc001hjt.3	+	1	1056	c.858A>G	c.(856-858)acA>acG	p.T286T		NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	286					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTGTTGCCACACTTTTATTTA	0.338000														41			13		0	0	0.00136819	0	0
CPZ	8532	broad.mit.edu	37	4	8602914	8602914	+	Silent	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:8602914C>A	uc003glm.3	+	2	360	c.186C>A	c.(184-186)ccC>ccA	p.P62P	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.P51P|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	62	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCACCTTCCCCAACCTGCTTC	0.647000														6			20		1.28384e-07	3.41182e-07	0.00188189	1	0
PTPN9	5780	broad.mit.edu	37	15	75766106	75766106	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:75766106G>A	uc002bal.3	-	9	1640	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	378	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCCAAAGGACCTGAAATA	0.413000														40			37		0	0	0.000953801	0	0
PRDM16	63976	broad.mit.edu	37	1	3321339	3321339	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3321339C>T	uc001akf.3	+	6	1003	c.921C>T	c.(919-921)cgC>cgT	p.R307R	PRDM16_uc001ake.3_Silent_p.R307R|PRDM16_uc009vlh.3_Silent_p.R8R|PRDM16_uc001akc.3_Silent_p.R307R	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	307					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.R307R(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGAGGAGCGCGAGTACAAAT	0.627000			T	EVI1	"""MDS, AML"""									12			9		0	0	0.000442599	0	0
KCNS1	3787	broad.mit.edu	37	20	43723592	43723592	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:43723592G>A	uc002xnc.3	-	4	1897	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	KCNS1_uc002xnd.3_Silent_p.S500S	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	500						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				AGGTTTCTCGGGATGTCTCCA	0.572000														115			56		0	0	0.00361006	0	0
ABLIM3	22885	broad.mit.edu	37	5	148579890	148579890	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:148579890C>T	uc003lpy.2	+	4	598	c.347C>T	c.(346-348)cCc>cTc	p.P116L	ABLIM3_uc003lpz.1_Missense_Mutation_p.P116L|ABLIM3_uc003lqa.1_Missense_Mutation_p.P124L|ABLIM3_uc003lqb.3_Missense_Mutation_p.P116L|ABLIM3_uc003lqc.1_Missense_Mutation_p.P116L|ABLIM3_uc003lqd.1_Missense_Mutation_p.P116L|ABLIM3_uc003lqe.1_Missense_Mutation_p.P116L|ABLIM3_uc003lqf.3_Missense_Mutation_p.P116L	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	116	LIM zinc-binding 2.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCCTTTCCCCATTGGAGAC	0.512000														15			16		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179587192	179587192	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179587192C>T	uc021vsy.1	-	73	18815	c.18590G>A	c.(18589-18591)cGa>cAa	p.R6197Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2858Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7124	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATTTAATCGACAAGTGAG	0.418000														79			45		0	0	0.00321405	0	0
KLK4	9622	broad.mit.edu	37	19	51412580	51412580	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:51412580T>C	uc002pua.1	-	1	152	c.152A>G	c.(151-153)gAa>gGa	p.E51G	KLK4_uc002pty.1_Missense_Mutation_p.E2G|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'Flank	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	51	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAATTCGTTTTCCATGACCAG	0.617000														107			103		0	0	0.00361006	0	0
KLHL18	23276	broad.mit.edu	37	3	47361177	47361177	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:47361177T>C	uc003crd.3	+	1	290	c.164T>C	c.(163-165)gTc>gCc	p.V55A	KLHL18_uc003crc.2_Missense_Mutation_p.V55A|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	55										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CACCGGATTGTCTTAGCAGCC	0.413000														22			30		0	0	0.00283554	0	0
WDFY3	23001	broad.mit.edu	37	4	85657478	85657478	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:85657478G>A	uc003hpd.3	-	41	7168	c.6760C>T	c.(6760-6762)Cat>Tat	p.H2254Y	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2254						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTCTTTTCATGGGCTATTAAA	0.353000														2			17		0	0	0.00400662	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506998	44506998	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:44506998C>T	uc002xqd.3	+	1	2046	c.1801C>T	c.(1801-1803)Cgt>Tgt	p.R601C	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R595C|ZSWIM1_uc010ghi.3_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	601							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GCTCCAGGATCGTGGTATGGT	0.587000														36			17		0	0	0.00400662	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249494	140249494	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140249494G>A	uc003lia.2	+	0	1664	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R269Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	284	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACAGACCGAGACGAAGGA	0.388000														15			4		0	0	0.00024832	0	0
CACNA1E	777	broad.mit.edu	37	1	181767596	181767596	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:181767596G>A	uc009wxt.3	+	47	6763	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	CACNA1E_uc001gow.3_Missense_Mutation_p.E2147K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2128K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGATGGAAGCGAGGAGGGCTC	0.642000														17			18		0	0	0.000958276	0	0
SNAPC2	6618	broad.mit.edu	37	19	7987101	7987101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:7987101C>T	uc002miw.2	+	3	612	c.554C>T	c.(553-555)gCc>gTc	p.A185V	SNAPC2_uc002mix.2_Non-coding_Transcript	NM_003083	NP_003074	Q13487	SNPC2_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 2, 45kDa (SNAPC2), transcript variant 1, mRNA.	185					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGACCCTGCCCCTGAGAAA	0.582000														58			28		0	0	0.001512	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276908	71276908	+	Missense_Mutation	SNP	G	A	A	rs36179995		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:71276908G>A	uc001oqt.1	+	0	300	c.275G>A	c.(274-276)gGg>gAg	p.G92E		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	92	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTCCAAGGGGGGCTGTGGC	0.677000														43			11		0	0	0.00074312	0	0
PCDH9	5101	broad.mit.edu	37	13	67801278	67801278	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:67801278G>A	uc001vik.3	-	1	1987	c.1295C>T	c.(1294-1296)aCc>aTc	p.T432I	PCDH9_uc001vil.3_Missense_Mutation_p.T432I|PCDH9_uc010thl.2_Missense_Mutation_p.T432I|PCDH9_uc001vin.3_Missense_Mutation_p.T432I	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	432	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T432N(2)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAATTCTTTGGTGCCCTCATA	0.403000														11			47		0	0	0.00361006	0	0
GLG1	2734	broad.mit.edu	37	16	74491788	74491788	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:74491788G>A	uc002fcx.3	-	23	3299	c.3249C>T	c.(3247-3249)acC>acT	p.T1083T	GLG1_uc002fcw.4_Silent_p.T1072T|GLG1_uc002fcy.4_Silent_p.T1083T|GLG1_uc002fcz.4_Silent_p.T500T	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1083						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CGCGGCCAGGGGTGATGGCTG	0.507000														48			29		0	0	0.00209593	0	0
ARMC9	80210	broad.mit.edu	37	2	232196543	232196543	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:232196543C>T	uc002vrq.4	+	19	1924	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_uc002vrp.4_Silent_p.D604D|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	604							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562000														13			13		0	0	0.00185496	0	0
DPYD	1806	broad.mit.edu	37	1	97700485	97700485	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:97700485G>A	uc001drv.3	-	18	2502	c.2365C>T	c.(2365-2367)Ccc>Tcc	p.P789S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	789					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCCAAAATGGGAAATCCAGGC	0.468000														18			14		0	0	0.00185496	0	0
C1orf94	84970	broad.mit.edu	37	1	34666435	34666435	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:34666435C>T	uc001bxt.3	+	2	1910	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	C1orf94_uc001bxs.4_Missense_Mutation_p.P168S	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	168							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CAGCCAGTGGCCCCAGAGCCA	0.582000														41			16		0	0	0.000958276	0	0
MICAL2	9645	broad.mit.edu	37	11	12284034	12284034	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:12284034C>T	uc001mjz.3	+	26	3630	c.3342C>T	c.(3340-3342)ttC>ttT	p.F1114F	MICAL2_uc010rch.1_Silent_p.F924F|MICAL2_uc001mka.3_Silent_p.F1114F|MICAL2_uc010rci.2_Silent_p.F1093F|MICAL2_uc001mkb.3_3'UTR|MICAL2_uc001mkc.3_3'UTR|MICAL2_uc001mkd.3_3'UTR|MICAL2_uc010rcj.2_3'UTR|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1114						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGTTCATTTCAGCCTTCCAG	0.443000														87			39		0	0	0.00285205	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698891	17698891	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:17698891C>T	uc002rcl.1	-	0	816	c.792G>A	c.(790-792)atG>atA	p.M264I	RAD51AP2_uc010exn.1_Missense_Mutation_p.M255I	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	264										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TATTTAAGTCCATTGGAAACT	0.348000														26			26		0	0	0.00395357	0	0
LGALS12	85329	broad.mit.edu	37	11	63276045	63276045	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:63276045G>A	uc001nxc.2	+	1	497	c.156G>A	c.(154-156)acG>acA	p.T52T	LGALS12_uc001nxa.2_Silent_p.T52T|LGALS12_uc001nxb.2_Silent_p.T52T|LGALS12_uc001nxd.2_5'UTR|LGALS12_uc001nxe.2_5'UTR|LGALS12_uc009yot.2_Missense_Mutation_p.D15N	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	52	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	p.T52R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						ATGTCACGACGATTTTTGGAG	0.547000														26			21		0	0	0.00278032	0	0
TRIM11	81559	broad.mit.edu	37	1	228588737	228588737	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:228588737C>T	uc001hss.3	-	2	918	c.663G>A	c.(661-663)caG>caA	p.Q221Q	TRIM11_uc010pvx.2_Silent_p.Q220Q|TRIM11_uc001hst.1_Silent_p.Q221Q	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	221					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GGTGGGCGCTCTGCTGGCCTA	0.711000														6			7		0	0	0.00198382	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323864	64323864	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64323864G>A	uc001oai.3	+	1	767	c.393_splice	c.e1+1	p.K131_splice	SLC22A11_uc001oah.1_Splice_Site_p.K131_splice|SLC22A11_uc009ypq.3_Splice_Site_p.K131_splice	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	131					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCGTGGCCAAGGTAGGGCCTC	0.637000														9			5		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179398114	179398114	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179398114C>T	uc021vsy.1	-	306	95749	c.95524G>A	c.(95524-95526)Gaa>Aaa	p.E31842K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25537K|TTN_uc021vta.1_Missense_Mutation_p.E25470K|TTN_uc021vtb.1_Missense_Mutation_p.E25345K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32769	Fibronectin type-III 131.						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)			TGGATAATTTCAATGTTAGGC	0.478000														49			39		0	0	0.00148497	0	0
TOPBP1	11073	broad.mit.edu	37	3	133347301	133347301	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:133347301C>G	uc003eps.3	-	15	2841	c.2709G>C	c.(2707-2709)aaG>aaC	p.K903N	TOPBP1_uc003ept.1_5'UTR	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	903	BRCT 6.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TGTGAAGTGGCTTTGGGGCTT	0.368000								Other conserved DNA damage response genes						3			11		0	0	0.000978159	0	0
EFHC1	114327	broad.mit.edu	37	6	52288799	52288799	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:52288799T>C	uc003pap.4	+	1	334	c.119T>C	c.(118-120)gTt>gCt	p.V40A	EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.2_Missense_Mutation_p.V21A	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	40						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TATGCAATTGTTCGACGTCCA	0.473000														100			31		0	0	0.00209593	0	0
TRPC4	7223	broad.mit.edu	37	13	38266406	38266406	+	Silent	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:38266406T>G	uc010abx.3	-	3	1199	c.964A>C	c.(964-966)Agg>Cgg	p.R322R	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Silent_p.R322R|TRPC4_uc001uws.3_Silent_p.R322R|TRPC4_uc010tey.2_Silent_p.R322R|TRPC4_uc010abw.3_Silent_p.R149R|TRPC4_uc010aby.3_Silent_p.R322R	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	322					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TGTCTTCTCCTCCAGCCTGGA	0.463000														25			23		0	0	0.00332997	0	0
NLRP8	126205	broad.mit.edu	37	19	56467425	56467425	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56467425G>A	uc002qmh.3	+	2	2072	c.2001G>A	c.(1999-2001)atG>atA	p.M667I	NLRP8_uc010etg.3_Missense_Mutation_p.M667I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	667						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGAACTTCATGAACGTGTGGA	0.522000														35			13		0	0	0.00185496	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479463	156479463	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:156479463C>T	uc010jij.1	-	3	767	c.582G>A	c.(580-582)acG>acA	p.T194T	HAVCR1_uc011ddl.1_Silent_p.T25T|HAVCR1_uc003lwi.2_Silent_p.T194T|HAVCR1_uc021ygj.1_Silent_p.T194T|HAVCR1_uc021ygk.1_Silent_p.T25T|HAVCR1_uc011ddm.2_Silent_p.T194T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	189	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T194T(2)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAATGCTCGTTGTCGTTG	0.463000														489			132		0	0	0.00361006	0	0
DGKI	9162	broad.mit.edu	37	7	137237213	137237213	+	Silent	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:137237213G>T	uc003vtt.3	-	19	2050	c.2049C>A	c.(2047-2049)ccC>ccA	p.P683P	DGKI_uc003vtu.3_Silent_p.P383P	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	683					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCAACCTACAGGGCTCCCCAT	0.522000														159			38		3.09479e-21	8.45669e-21	0.00148497	1	0
RGL2	5863	broad.mit.edu	37	6	33262764	33262764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33262764G>A	uc003odv.3	-	9	1828	c.1268C>T	c.(1267-1269)tCc>tTc	p.S423F	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S341F|RGL2_uc011drb.2_Missense_Mutation_p.S341F	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	423	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCACCCCGGGAGCCAGACCT	0.592000														1			3		0	0	6.4e-05	0	0
COL6A3	1293	broad.mit.edu	37	2	238242171	238242171	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:238242171G>A	uc002vwl.2	-	41	9535	c.9250C>T	c.(9250-9252)Cca>Tca	p.P3084S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2878S|COL6A3_uc010znj.1_Missense_Mutation_p.P2477S|COL6A3_uc002vwj.2_Missense_Mutation_p.P465S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3084	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGGCTGTGGAGGTGGGGGC	0.428000														35			24		0	0	0.000720815	0	0
BTBD9	114781	broad.mit.edu	37	6	38548061	38548061	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38548061C>T	uc003ooa.4	-	5	1543	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BTBD9_uc010jwv.3_Missense_Mutation_p.E264K|BTBD9_uc003ony.4_Missense_Mutation_p.E255K|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.E323K	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	323					cell adhesion			p.G323W(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCTTAATCTCGATGCCGGAA	0.423000														39			65		0	0	0.00361006	0	0
DPYD	1806	broad.mit.edu	37	1	97547900	97547900	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:97547900C>T	uc001drv.3	-	21	3030	c.2893G>A	c.(2893-2895)Gat>Aat	p.D965N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	965	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.D965D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TAGCCAGAATCATTACAGGTC	0.393000														72			21		0	0	0.00152264	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934559	113934559	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:113934559C>T	uc001pop.3	+	1	801	c.537C>T	c.(535-537)ccC>ccT	p.P179P	ZBTB16_uc001poo.1_Silent_p.P179P|ZBTB16_uc001poq.3_Silent_p.P179P	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	179					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TCCCTGGGCCCATGGTGGACC	0.557000														20			26		0	0	0.000878237	0	0
CPZ	8532	broad.mit.edu	37	4	8616092	8616092	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:8616092C>T	uc003glm.3	+	8	1544	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.S446F|CPZ_uc003gln.3_Missense_Mutation_p.S320F	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	457					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACAGGCATGTCCGATTTCAAC	0.617000														7			28		0	0	0.00283554	0	0
C10orf27	219793	broad.mit.edu	37	10	72533991	72533991	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:72533991C>A	uc010qjm.1	-	8	1288	c.898G>T	c.(898-900)Gag>Tag	p.E300*	C10orf27_uc001jrj.1_Nonsense_Mutation_p.E299*|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Nonsense_Mutation_p.E298*|C10orf27_uc009xqi.1_Non-coding_Transcript	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	299					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						TCTTGCTTCTCTTGAGGAGGT	0.622000														11			21		3.28513e-13	8.84457e-13	0.00395357	1	0
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:7578176C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.3_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.2_Missense_Mutation_p.V186I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527000		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)				1			17		0	0	0.00400662	0	0
NCR1	9437	broad.mit.edu	37	19	55417961	55417961	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55417961G>A	uc002qib.2	+	2	189	c.151G>A	c.(151-153)Gga>Aga	p.G51R	NCR1_uc002qic.2_Missense_Mutation_p.G51R|NCR1_uc002qie.2_Missense_Mutation_p.G51R|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	51	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity	p.G51R(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTGTTGCCAGGGAAATTATGG	0.488000														47			20		0	0	0.000958276	0	0
NPY1R	4886	broad.mit.edu	37	4	164246515	164246515	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:164246515C>T	uc003iqm.2	-	2	1560	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.K122K	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	365					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGCTTGCTTGCTTCAAAGAAG	0.373000														19			30		0	0	0.00127121	0	0
ABCG8	64241	broad.mit.edu	37	2	44099211	44099211	+	Missense_Mutation	SNP	G	T	T	rs142346631		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:44099211G>T	uc002rtq.3	+	6	1151	c.1061G>T	c.(1060-1062)cGt>cTt	p.R354L	ABCG8_uc010yoa.2_Missense_Mutation_p.R354L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	354					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAAAAGTGCGTGACTTAGAT	0.542000														245			178		4.54229e-91	1.24951e-90	0.00361006	1	0
VCAN	1462	broad.mit.edu	37	5	82835756	82835756	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:82835756G>A	uc003kii.3	+	7	7290	c.6934G>A	c.(6934-6936)Gga>Aga	p.G2312R	VCAN_uc003kij.3_Missense_Mutation_p.G1325R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.G976R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2312	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G2312V(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAAGAAGTTGGACCACTCGT	0.388000														36			12		0	0	0.00244969	0	0
DBF4	10926	broad.mit.edu	37	7	87516699	87516699	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87516699T>G	uc003ujf.1	+	4	1010	c.506T>G	c.(505-507)aTt>aGt	p.I169S	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	169	BRCT 2.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GGAGTAAAAATTCTTCATATT	0.279000														16			7		0	0	0.00307968	0	0
LRSAM1	90678	broad.mit.edu	37	9	130263419	130263419	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:130263419G>A	uc004brb.2	+	24	2415	c.2043G>A	c.(2041-2043)cgG>cgA	p.R681R	LRSAM1_uc010mxk.2_Silent_p.R654R|LRSAM1_uc004brc.2_Silent_p.R681R|LRSAM1_uc004brd.2_Silent_p.R681R|LRSAM1_uc004bre.2_Silent_p.R261R|LRSAM1_uc004brg.2_Silent_p.R112R	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	681					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GCCTGGAACGGGAGGTAAGTC	0.647000														11			7		0	0	0.000274275	0	0
MYH13	8735	broad.mit.edu	37	17	10258026	10258026	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:10258026C>T	uc002gmk.1	-	10	1066	c.976G>A	c.(976-978)Gat>Aat	p.D326N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	326	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.D326Y(3)|p.D326N(3)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCACTGTCATCGATACTGGCT	0.453000														8			40		0	0	0.00128727	0	0
MUC5B	727897	broad.mit.edu	37	11	1155154	1155154	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:1155154C>T	uc021qbr.1	+	2	209	c.162C>T	c.(160-162)ctC>ctT	p.L54L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	59					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGTCCCGCTCCGTGGGGCGA	0.667000														15			10		0	0	0.000673444	0	0
DNAH7	56171	broad.mit.edu	37	2	196749481	196749481	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:196749481T>A	uc002utj.4	-	34	5692	c.5591A>T	c.(5590-5592)gAt>gTt	p.D1864V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1864					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.D1864N(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATCGATCATCATCTGTACA	0.338000														21			10		0	0	0.000978159	0	0
OR56A3	390083	broad.mit.edu	37	11	5969509	5969509	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:5969509G>A	uc010qzt.2	+	0	933	c.933G>A	c.(931-933)ttG>ttA	p.L311L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGTTGTTGAAGAAAGGGT	0.408000														32			7		0	0	0.00307968	0	0
CIB4	130106	broad.mit.edu	37	2	26864149	26864150	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:26864149_26864150CC>TT	uc002rhm.3	-	0	62_63	c.33_34GG>AA	c.(31-36)tgggag>tgAAag	p.11_12WE>*K		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	11							calcium ion binding	p.E12E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCAGGTCCTCCCAGTGCATCT	0.554000														128			65		0	0	6.4e-05	0	0
WDR60	55112	broad.mit.edu	37	7	158663908	158663908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:158663908C>T	uc003woe.4	+	2	303	c.145C>T	c.(145-147)Ctt>Ttt	p.L49F		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	49										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGAGATGGACCTTCCTGAACA	0.547000														8			15		0	0	0.00316338	0	0
ARID2	196528	broad.mit.edu	37	12	46244875	46244875	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:46244875C>T	uc001ros.1	+	14	2969	c.2969C>T	c.(2968-2970)tCg>tTg	p.S990L	ARID2_uc001ror.3_Missense_Mutation_p.S990L|ARID2_uc009zkg.1_Missense_Mutation_p.S446L|ARID2_uc009zkh.1_Missense_Mutation_p.S617L|ARID2_uc001rou.1_Missense_Mutation_p.S324L	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	990	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCATGTCGTCGTCCTCTACC	0.498000			"""N, S, F"""		hepatocellular carcinoma									44			41		0	0	0.00321405	0	0
PLEC	5339	broad.mit.edu	37	8	145006632	145006632	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:145006632T>A	uc003zaf.1	-	15	2494	c.2324A>T	c.(2323-2325)gAg>gTg	p.E775V	PLEC_uc003zab.1_Missense_Mutation_p.E638V|PLEC_uc003zac.1_Missense_Mutation_p.E642V|PLEC_uc003zad.2_Missense_Mutation_p.E638V|PLEC_uc003zae.1_Missense_Mutation_p.E606V|PLEC_uc003zag.1_Missense_Mutation_p.E616V|PLEC_uc003zah.2_Missense_Mutation_p.E624V|PLEC_uc003zaj.2_Missense_Mutation_p.E665V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	775	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E774*(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCCACCTCCTCCTCCTCCTT	0.617000														26			25		0	0	0.00106085	0	0
CDH7	1005	broad.mit.edu	37	18	63477152	63477152	+	Silent	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:63477152C>A	uc002lkb.3	+	2	849	c.423C>A	c.(421-423)atC>atA	p.I141I	CDH7_uc002ljz.3_Silent_p.I141I|CDH7_uc002lka.3_Silent_p.I141I	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	141	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGTTTGTCATCAAAATTCAGG	0.512000														34			42		2.95478e-19	8.03406e-19	0.00195071	1	0
FAM135B	51059	broad.mit.edu	37	8	139164653	139164653	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:139164653C>G	uc003yuy.3	-	12	2236	c.2065G>C	c.(2065-2067)Gag>Cag	p.E689Q	FAM135B_uc003yux.3_Missense_Mutation_p.E590Q|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E251Q|FAM135B_uc003yvb.3_Missense_Mutation_p.E251Q	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	689										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTCACTCTCAATGCCTGAA	0.537000										HNSCC(54;0.14)				20			20		0	0	0.00188189	0	0
XIRP2	129446	broad.mit.edu	37	2	168105470	168105470	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168105470C>T	uc002udx.3	+	8	7657	c.7568C>T	c.(7567-7569)tCa>tTa	p.S2523L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S2348L|XIRP2_uc010fpq.3_Missense_Mutation_p.S2301L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2348					actin cytoskeleton organization	cell junction	actin binding	p.H2522Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATCTCATTCATTTCCAGAG	0.343000														80			33		0	0	0.00111076	0	0
ABCC1	4363	broad.mit.edu	37	16	16225750	16225750	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:16225750C>T	uc010bvi.3	+	26	4099	c.3924C>T	c.(3922-3924)ttC>ttT	p.F1308F	ABCC1_uc010bvj.3_Silent_p.F1249F|ABCC1_uc010bvk.3_Silent_p.F1252F|ABCC1_uc010bvl.3_Silent_p.F1308F|ABCC1_uc010bvm.3_Silent_p.F1193F|ABCC1_uc002del.4_Silent_p.F1202F|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.S198L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1308	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACCTGGACTTCGTTCTCAGGC	0.607000														3			13		0	0	0.00136819	0	0
ZNF471	57573	broad.mit.edu	37	19	57036825	57036825	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:57036825A>T	uc002qnh.3	+	4	1522	c.1389A>T	c.(1387-1389)gaA>gaT	p.E463D		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AATGCAAGGAATGTGGGAAAG	0.373000														60			6		0	0	0.00198382	0	0
SLC1A6	6511	broad.mit.edu	37	19	15067470	15067470	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:15067470C>T	uc002naa.1	-	5	994	c.987G>A	c.(985-987)atG>atA	p.M329I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.M265I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	329					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCATGTCTTCCATCTCCAGAA	0.587000														25			15		0	0	0.000566183	0	0
FLNC	2318	broad.mit.edu	37	7	128494538	128494538	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:128494538G>C	uc003vnz.4	+	40	7008	c.6799G>C	c.(6799-6801)Gtc>Ctc	p.V2267L	FLNC_uc003voa.4_Missense_Mutation_p.V2234L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2267					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGCAGAGATCGTCGAGGGCGA	0.647000														38			7		0	0	0.00198382	0	0
MOV10	4343	broad.mit.edu	37	1	113232514	113232514	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:113232514C>T	uc001eck.3	+	4	900	c.630C>T	c.(628-630)ttC>ttT	p.F210F	MOV10_uc001ecl.2_Silent_p.F210F|MOV10_uc001ecn.3_Silent_p.F210F|MOV10_uc001ecm.3_Silent_p.F150F|MOV10_uc009wgj.1_Silent_p.F150F	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	210					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGGGCTACTTCCCAGCCACAG	0.577000														35			30		0	0	0.00178596	0	0
RASAL1	8437	broad.mit.edu	37	12	113565627	113565627	+	Silent	SNP	G	C	C	rs113002402		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:113565627G>C	uc001tun.2	-	4	589	c.288C>G	c.(286-288)gcC>gcG	p.A96A	RASAL1_uc010syp.2_Silent_p.A96A|RASAL1_uc001tul.3_Silent_p.A96A|RASAL1_uc001tum.2_Silent_p.A96A|RASAL1_uc010syq.2_Silent_p.A96A|RASAL1_uc001tuo.4_Silent_p.A96A|RASAL1_uc010syr.2_Silent_p.A96A	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	96					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTCGGGGGTCGGCTGTAATCG	0.652000														21			7		0	0	0.00307968	0	0
AOX1	316	broad.mit.edu	37	2	201464445	201464445	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:201464445G>A	uc002uvx.3	+	4	513	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	138					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCCCACTCTGGATCAGTTAAC	0.433000														47			15		0	0	0.00074312	0	0
CDH13	1012	broad.mit.edu	37	16	83781839	83781839	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:83781839C>T	uc010vns.2	+	11	2070	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	CDH13_uc002fgx.3_Silent_p.F555F|CDH13_uc010vnt.2_Silent_p.F301F|CDH13_uc010vnu.2_Silent_p.F516F	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	555	Cadherin 5.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CTGCTCTCTTCCTGGCAATTG	0.433000														97			66		0	0	0.00361006	0	0
MGA	23269	broad.mit.edu	37	15	42050032	42050032	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:42050032C>T	uc010ucy.2	+	18	7367	c.7186C>T	c.(7186-7188)Cga>Tga	p.R2396*	MGA_uc010ucz.2_Nonsense_Mutation_p.R2187*|MGA_uc010uda.1_Nonsense_Mutation_p.R1012*	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2357	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGAAAGGAGTCGAAAGGTATT	0.323000														28			26		0	0	0.000878237	0	0
ADAM30	11085	broad.mit.edu	37	1	120438670	120438671	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:120438670_120438671CC>AA	uc001eij.3	-	0	477_478	c.289_290GG>TT	c.(289-291)ggg>TTg	p.G97L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	97					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CAGCAGTTCCCCATGTTCTGTG	0.490000														730			14		0	0	6.4e-05	0	0
HCFC1	3054	broad.mit.edu	37	X	153219097	153219097	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:153219097G>A	uc004fjp.3	-	17	4986	c.4458C>T	c.(4456-4458)acC>acT	p.T1486T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1486					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCGTCACGGTGGTCACAG	0.672000														12			11		0	0	0.00185496	0	0
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:76023417G>A	uc010kbe.3	-	5	2670	c.2140C>T	c.(2140-2142)Cgg>Tgg	p.R714W	FILIP1_uc003phy.1_Missense_Mutation_p.R711W|FILIP1_uc003phz.3_Missense_Mutation_p.R612W|FILIP1_uc003pia.3_Missense_Mutation_p.R711W|FILIP1_uc003pib.1_Missense_Mutation_p.R463W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000														35			86		0	0	0.00361006	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					17			100		0	0	0.00361006	0	0
ACD	65057	broad.mit.edu	37	16	67694252	67694253	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:67694252_67694253CC>TT	uc002etq.4	-	0	466_467	c.129_130GG>AA	c.(127-132)cggggt>cgAAgt	p.G44S	ACD_uc002etp.4_Missense_Mutation_p.G44S|ACD_uc002etr.4_Missense_Mutation_p.G44S|ACD_uc010vjt.1_Missense_Mutation_p.G34S|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	44					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCACGTACACCCCGCGCCTGCG	0.738000														17			6		0	0	6.4e-05	0	0
OR10P1	121130	broad.mit.edu	37	12	56031264	56031264	+	Missense_Mutation	SNP	G	A	A	rs141032808	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:56031264G>A	uc010spq.2	+	0	589	c.589G>A	c.(589-591)Gag>Aag	p.E197K		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GCACAGGAGCGAGATCTCCGT	0.532000														7			35		0	0	0.00283554	0	0
abParts	0	broad.mit.edu	37	14	106363880	106363880	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:106363880C>T	uc021ser.1	-	3669		c.56167_splice	c.e3669-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		ATCCTCCTGTCCCTACTGGTG	0.537000														6			3		0	0	0.000602214	0	0
ZAN	7455	broad.mit.edu	37	7	100349808	100349808	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:100349808G>A	uc003uwj.3	+	13	2245	c.2080G>A	c.(2080-2082)Gaa>Aaa	p.E694K	ZAN_uc003uwk.3_Missense_Mutation_p.E694K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	694	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACGGAAAAACCCAC	0.537000														5			24		0	0	0.00332997	0	0
SCN7A	6332	broad.mit.edu	37	2	167327215	167327215	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167327215C>T	uc002udu.2	-	6	703	c.573_splice	c.e6-1	p.E191_splice	SCN7A_uc010fpm.2_Splice_Site	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	191					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTTATAATAACCCTGTGGAAT	0.279000														15			10		0	0	0.000673444	0	0
CEP41	95681	broad.mit.edu	37	7	130042623	130042624	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:130042623_130042624CC>AA	uc003vpz.3	-	6	486_487	c.439_440GG>TT	c.(439-441)ggg>TTg	p.G147L	CEP41_uc003vpy.3_5'Flank|CEP41_uc010lmf.3_5'UTR|CEP41_uc003vqa.3_Missense_Mutation_p.G147L|CEP41_uc011kpg.2_Missense_Mutation_p.G131L	NM_018718	NP_061188	Q9BYV8	CEP41_HUMAN	Homo sapiens centrosomal protein 41kDa (CEP41), mRNA.	147					G2/M transition of mitotic cell cycle	centrosome|cytosol		p.G147W(1)									ATCCAGTTCCCCAACACCACTG	0.485000														810			15		0	0	6.4e-05	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261017	67261018	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:67261017_67261018GG>AA	uc001olx.3	-	20	3394_3395	c.3205_3206CC>TT	c.(3205-3207)ccg>TTg	p.P1069L	PITPNM1_uc001olw.3_Missense_Mutation_p.P351L|PITPNM1_uc001oly.3_Missense_Mutation_p.P1069L|PITPNM1_uc001olz.3_Missense_Mutation_p.P1068L	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	1069					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTGCATATCCGGCCGGCCTGTG	0.683000														1			5		0	0	6.4e-05	0	0
CLASP2	23122	broad.mit.edu	37	3	33623386	33623386	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:33623386A>C	uc021wvc.1	-	22	2488	c.2277T>G	c.(2275-2277)agT>agG	p.S759R	CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Missense_Mutation_p.S525R|CLASP2_uc011axt.1_Missense_Mutation_p.S351R	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	759								p.Q759H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TGCATCCTTGACTCACACTTG	0.512000														15			11		0	0	0.000978159	0	0
TMEM184A	202915	broad.mit.edu	37	7	1595081	1595081	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:1595081G>A	uc003skv.4	-	1	357	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S	TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	14						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GACACCAGGGGGACGCCGGCT	0.677000														41			43		0	0	0.00361006	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422093	1422093	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:1422093G>A	uc003jck.3	-	4	816	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	230					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGGTCGTCGATGCCATGGC	0.652000														21			20		0	0	0.00152264	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:113676334C>T	uc002tij.3	+	4	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000														30			12		0	0	0.00316338	0	0
SIGLEC6	946	broad.mit.edu	37	19	52023378	52023378	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52023378C>T	uc002pwy.3	-	7	1528	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	SIGLEC6_uc002pwz.3_Silent_p.K424K|SIGLEC6_uc010ydb.2_Silent_p.K388K|SIGLEC6_uc010ydc.2_3'UTR|SIGLEC6_uc002pxa.3_3'UTR|SIGLEC6_uc010eoz.2_3'UTR	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	440					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTCGGTGACCTTTGGTTCCT	0.493000														69			32		0	0	0.00327116	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067301	18067301	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:18067301G>A	uc003stz.3	-	0	186	c.105C>T	c.(103-105)ttC>ttT	p.F35F		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	35					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCTGGTTGCTGAATTTCTTAG	0.507000														123			107		0	0	0.00361006	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|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		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)				11			22		0	0	0.00229938	0	0
NOD1	10392	broad.mit.edu	37	7	30491343	30491343	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:30491343G>A	uc003tav.3	-	5	2213	c.1690C>T	c.(1690-1692)Ccg>Tcg	p.P564S		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	564					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.P564P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACTGGAACGGGAGGAAGGGA	0.627000														78			43		0	0	0.00285205	0	0
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167162345G>A	uc010fpl.3	-	4	894	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378000														50			29		0	0	0.001512	0	0
RGL2	5863	broad.mit.edu	37	6	33264095	33264095	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33264095T>C	uc003odv.3	-	5	1038	c.478A>G	c.(478-480)Atc>Gtc	p.I160V	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Missense_Mutation_p.I78V|RGL2_uc011drb.2_Missense_Mutation_p.I78V	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	160	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGTACAGAGATGGCTACCCTG	0.557000														38			4		0	0	0.000602214	0	0
OR10G7	390265	broad.mit.edu	37	11	123908941	123908941	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:123908941G>A	uc001pzq.1	-	0	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCAGGTAAATGAAAAGACCAG	0.567000														30			21		0	0	0.000720815	0	0
WDR65	149465	broad.mit.edu	37	1	43675567	43675567	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:43675567C>T	uc021omk.1	+	10	2055	c.1909C>T	c.(1909-1911)Cat>Tat	p.H637Y	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.H626Y|WDR65_uc001ciq.2_Missense_Mutation_p.H637Y|WDR65_uc001cip.2_Missense_Mutation_p.H637Y	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	637										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTACCAGGCCCATGCCGGTCC	0.572000														32			10		0	0	0.000442599	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106680916	106680916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:106680916G>A	uc009yxn.1	-	4	1885	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	GUCY1A2_uc001pjg.1_Missense_Mutation_p.P499S|GUCY1A2_uc010rvo.1_Missense_Mutation_p.P520S	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	499					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACATCACCAGGGAAAATAGAA	0.423000														46			17		0	0	0.000566183	0	0
TTN	7273	broad.mit.edu	37	2	179447923	179447923	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179447923C>T	uc021vsy.1	-	261	58128	c.57903G>A	c.(57901-57903)atG>atA	p.M19301I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12996I|TTN_uc021vta.1_Missense_Mutation_p.M12929I|TTN_uc021vtb.1_Missense_Mutation_p.M12804I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20228	Fibronectin type-III 39.						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)			GCAAAGATTTCATAGCCACAC	0.373000														18			13		0	0	0.00316338	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033134	20033134	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:20033134C>T	uc002wrs.3	-	1	368	c.336G>A	c.(334-336)gcG>gcA	p.A112A	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.A100A	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	112					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGACCTCTCGCTTGAGCCG	0.597000														10			21		0	0	0.00229938	0	0
ADCK2	90956	broad.mit.edu	37	7	140373218	140373218	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:140373218C>T	uc003vvy.1	+	0	266	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	ADCK2_uc003vvz.3_Missense_Mutation_p.P30S	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	30						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CCTCCTGAGGCCCTCCGAGTG	0.687000														7			18		0	0	0.000958276	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815923	23815923	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:23815923C>T	uc003gqs.3	-	7	1303	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	395					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|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|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|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)				ATGAGTATTTCTGTTTTGGAA	0.453000														9			20		0	0	0.00121646	0	0
DNAH10	196385	broad.mit.edu	37	12	124319983	124319983	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:124319983T>C	uc001uft.4	+	26	4481	c.4456T>C	c.(4456-4458)Tat>Cat	p.Y1486H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1486	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAATGGATGTATCTTGAAAG	0.383000														8			9		0	0	0.000274275	0	0
F5	2153	broad.mit.edu	37	1	169510779	169510779	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:169510779C>T	uc001ggg.1	-	12	3694	c.3549G>A	c.(3547-3549)caG>caA	p.Q1183Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1183	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGATGACTGTCTGCCAGACTT	0.517000														66			96		0	0	0.00361006	0	0
COL11A2	1302	broad.mit.edu	37	6	33144071	33144071	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:33144071C>T	uc003ocx.1	-	27	2407	c.2179G>A	c.(2179-2181)Gga>Aga	p.G727R	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G641R|COL11A2_uc003ocz.1_Missense_Mutation_p.G620R	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	727	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.D726D(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAATTCCGTCCACACCC	0.557000														11			4		0	0	0.000602214	0	0
PTPRK	5796	broad.mit.edu	37	6	128294865	128294865	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:128294865C>T	uc003qbk.3	-	27	4441	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V	PTPRK_uc010kfc.3_Silent_p.V1365V|PTPRK_uc003qbj.3_Silent_p.V1359V|PTPRK_uc011ebu.2_Silent_p.V1381V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1358	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCCACTTTTCCACCTGAAGTA	0.512000														23			35		0	0	0.00111076	0	0
ABCC2	1244	broad.mit.edu	37	10	101554225	101554225	+	Splice_Site	SNP	G	A	A	rs143584410		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:101554225G>A	uc001kqf.2	+	6	771	c.632_splice	c.e6+1	p.S211_splice		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	211						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGTATGACAGGTAGGAAAGC	0.373000														7			21		0	0	0.00188189	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958303	122958303	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:122958303G>A	uc001ucn.3	-	13	2021	c.1865C>T	c.(1864-1866)gCc>gTc	p.A622V	ZCCHC8_uc001ucl.3_Missense_Mutation_p.A233V|ZCCHC8_uc001ucm.3_Missense_Mutation_p.A384V|ZCCHC8_uc009zxp.3_Missense_Mutation_p.A384V|ZCCHC8_uc009zxq.3_Missense_Mutation_p.A384V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	622						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ATCAAGAAGGGCACCTTCAGT	0.498000														49			51		0	0	0.00361006	0	0
RERE	473	broad.mit.edu	37	1	8716354	8716354	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:8716354C>T	uc001ape.3	-	2	813	c.3G>A	c.(1-3)atG>atA	p.M1I	RERE_uc001apf.3_Missense_Mutation_p.M1I|RERE_uc001aph.1_Missense_Mutation_p.M1I	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		tgtcCGCTGTCATGATTCGCC	0.498000														57			66		0	0	0.00361006	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062587	66062587	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:66062587C>T	uc001ohl.3	+	1	982	c.870C>T	c.(868-870)ctC>ctT	p.L290L		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	290						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						TCTTCTGGCTCGTGTCGGCGG	0.692000														10			6		0	0	0.00198382	0	0
OLFML2B	25903	broad.mit.edu	37	1	161987262	161987262	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:161987262G>A	uc010pkq.2	-	2	898	c.474C>T	c.(472-474)ttC>ttT	p.F158F	OLFML2B_uc001gbu.3_Silent_p.F158F	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	158										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CCAGGCCATAGAACGCTCCTT	0.493000														92			21		0	0	0.00278032	0	0
TTN	7273	broad.mit.edu	37	2	179427846	179427846	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179427846C>T	uc021vsy.1	-	274	75534	c.75309G>A	c.(75307-75309)gaG>gaA	p.E25103E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E18798E|TTN_uc021vta.1_Silent_p.E18731E|TTN_uc021vtb.1_Silent_p.E18606E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26030	Fibronectin type-III 82.						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)			TTTCTGGTGGCTCTATCCTCT	0.453000														110			99		0	0	0.00361006	0	0
AFF4	27125	broad.mit.edu	37	5	132270135	132270135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:132270135G>A	uc003kyd.3	-	2	1030	c.622C>T	c.(622-624)Caa>Taa	p.Q208*	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Nonsense_Mutation_p.Q208*|AFF4_uc003kyf.4_Nonsense_Mutation_p.Q208*	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	208	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCGTTGATGTTCCTTG	0.488000														43			12		0	0	0.00136819	0	0
PDGFRB	5159	broad.mit.edu	37	5	149505123	149505123	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:149505123G>A	uc003lro.3	-	11	2161	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	PDGFRB_uc010jhd.3_Silent_p.I403I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	564					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTCCATCGGATCTCGTAAC	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									30			16		0	0	0.000566183	0	0
ZNF329	79673	broad.mit.edu	37	19	58640279	58640279	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58640279G>A	uc002qrn.3	-	3	829	c.592C>T	c.(592-594)Cct>Tct	p.P198S	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.P198S	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TTCTCTCCAGGGAGATTTCTC	0.388000														33			25		0	0	0.00106085	0	0
RAF1	5894	broad.mit.edu	37	3	12660171	12660171	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:12660171A>G	uc003bxf.4	-	1	465	c.50T>C	c.(49-51)tTc>tCc	p.F17S	RAF1_uc011auu.2_5'UTR	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	17					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGCATCTTTGAATCCAAAACC	0.438000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					29			6		0	0	0.00116845	0	0
SPATA21	374955	broad.mit.edu	37	1	16736505	16736505	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:16736505C>G	uc001ayn.3	-	5	661	c.178G>C	c.(178-180)Gac>Cac	p.D60H	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.D37H	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	60							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TGCGCACGGTCTGGCTCCCGC	0.647000														23			5		0	0	0.00116845	0	0
RASAL1	8437	broad.mit.edu	37	12	113537799	113537799	+	Missense_Mutation	SNP	G	A	A	rs149283617		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:113537799G>A	uc001tun.2	-	21	2657	c.2356C>T	c.(2356-2358)Cgt>Tgt	p.R786C	RASAL1_uc010syp.2_Missense_Mutation_p.R785C|RASAL1_uc001tul.3_Missense_Mutation_p.R756C|RASAL1_uc001tum.2_Missense_Mutation_p.R784C	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	784					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding	p.R784C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCGTGGGCACGATCCAGGTCT	0.667000														10			14		0	0	0.00244969	0	0
CEP63	80254	broad.mit.edu	37	3	134267997	134267997	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:134267997A>C	uc003eqo.1	+	10	1610	c.1161A>C	c.(1159-1161)gaA>gaC	p.E387D	CEP63_uc003eql.1_Missense_Mutation_p.E341D|CEP63_uc003eqm.3_Missense_Mutation_p.E341D|CEP63_uc003eqn.1_Missense_Mutation_p.E387D|CEP63_uc003eqp.1_Missense_Mutation_p.E16D	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	387					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATAACAATGAATACAAAGCAG	0.373000														10			16		0	0	0.00400662	0	0
SUGP2	10147	broad.mit.edu	37	19	19120953	19120953	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:19120953G>A	uc002nkz.1	-	4	2111	c.2091C>T	c.(2089-2091)ctC>ctT	p.L697L	SUGP2_uc002nkx.2_Silent_p.L683L|SUGP2_uc002nla.1_Silent_p.L683L|SUGP2_uc002nlb.2_Silent_p.L683L|SUGP2_uc010xqk.1_Silent_p.L452L	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	683					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTTGAGCACGGAGGAGCCCCC	0.667000														53			33		0	0	0.00209593	0	0
UGT1A1	54658	broad.mit.edu	37	2	234602392	234602392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:234602392C>T	uc002vuv.4	+	0	881	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Nonsense_Mutation_p.Q248*	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	249					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACCTTATATCAGAAGGTCTC	0.393000														168			128		0	0	0.00361006	0	0
BAHD1	22893	broad.mit.edu	37	15	40757536	40757536	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40757536C>T	uc001zlu.2	+	5	2126	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	BAHD1_uc001zlt.2_Silent_p.P684P|BAHD1_uc010bbp.1_Intron|BAHD1_uc001zlv.2_Intron	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	685	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTTTGAGCCCTTGCAGAATG	0.542000														33			17		0	0	0.00121646	0	0
C1orf173	127254	broad.mit.edu	37	1	75078475	75078475	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:75078475G>A	uc001dgg.3	-	8	1238	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S134F	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	340										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGCCTTTTGGAAATAAACTG	0.373000														10			7		0	0	0.00198382	0	0
EPHB3	2049	broad.mit.edu	37	3	184290369	184290369	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:184290369C>T	uc003foz.3	+	2	698	c.261C>T	c.(259-261)agC>agT	p.S87S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	87						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCGAGTCAAGCCAGAACAACT	0.562000														7			15		0	0	0.00074312	0	0
DENND4A	10260	broad.mit.edu	37	15	65962220	65962220	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:65962220G>A	uc002api.3	-	26	5066	c.4681C>T	c.(4681-4683)Cca>Tca	p.P1561S	DENND4A_uc002aph.3_Missense_Mutation_p.P1518S	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATGGAGGATGGAAAGTGCATA	0.388000														13			21		0	0	0.00278032	0	0
LILRP2	79166	broad.mit.edu	37	19	55222279	55222279	+	RNA	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55222279G>A	uc002qgs.1	+	0		c.2679G>A			LILRP2_uc002qgt.1_Intron					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GGAAAGAGGGGAGTAAAGGGG	0.627000														11			8		0	0	0.00307968	0	0
NEBL	10529	broad.mit.edu	37	10	21141544	21141544	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:21141544C>T	uc001iqi.3	-	9	1335	c.938G>A	c.(937-939)gGa>gAa	p.G313E	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	313					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGATACATTCCTTTGTTTTC	0.398000														9			9		0	0	0.000442599	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739528	121739528	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:121739528G>A	uc003ksw.1	+	2	304	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.R33Q|SNCAIP_uc003ksy.1_Missense_Mutation_p.E18K|SNCAIP_uc003ksx.1_Missense_Mutation_p.R80Q|SNCAIP_uc003ksz.1_Missense_Mutation_p.E18K|SNCAIP_uc010jcu.2_Missense_Mutation_p.E18K|SNCAIP_uc011cwm.1_Missense_Mutation_p.E18K|SNCAIP_uc003kta.1_Missense_Mutation_p.E16K|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E18K|SNCAIP_uc010jcx.1_Missense_Mutation_p.R33Q	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	33					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAACTGTGCCGAAGATGTGAT	0.453000														44			46		0	0	0.00361006	0	0
EGFR	1956	broad.mit.edu	37	7	55223588	55223588	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:55223588G>A	uc003tqk.3	+	7	1201	c.955G>A	c.(955-957)Gag>Aag	p.E319K	EGFR_uc003tqh.3_Missense_Mutation_p.E319K|EGFR_uc003tqi.3_Missense_Mutation_p.E319K|EGFR_uc003tqj.3_Missense_Mutation_p.E319K|EGFR_uc022adm.1_Missense_Mutation_p.E319K|EGFR_uc010kzg.2_Missense_Mutation_p.E274K|EGFR_uc022adn.1_Missense_Mutation_p.E274K|EGFR_uc011kco.2_Missense_Mutation_p.E266K|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	319					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTATGAGATGGAGGAAGACGG	0.597000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				21			27		0	0	0.000878237	0	0
ADAM19	8728	broad.mit.edu	37	5	156915343	156915343	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:156915343C>T	uc003lwz.3	-	20	2559	c.2480G>A	c.(2479-2481)aGg>aAg	p.R827K	ADAM19_uc003lww.2_Missense_Mutation_p.R560K|ADAM19_uc003lwy.3_Missense_Mutation_p.R426K|ADAM19_uc011ddr.1_Missense_Mutation_p.R758K	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	827					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGACTCCGTCCTCTCTATTTG	0.607000														58			26		0	0	0.00332997	0	0
HPN	3249	broad.mit.edu	37	19	35551309	35551309	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:35551309G>A	uc002nxq.2	+	8	758	c.513G>A	c.(511-513)ttG>ttA	p.L171L	HPN_uc002nxr.2_Silent_p.L171L|HPN_uc010xsh.1_Silent_p.L140L|HPN_uc002nxt.1_Silent_p.L55L|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	171	Peptidase S1.				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)	ACACCAGCTTGGGCCGGTGGC	0.687000														49			14		0	0	0.00316338	0	0
RP1L1	94137	broad.mit.edu	37	8	10465158	10465158	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:10465158G>A	uc003wtc.3	-	3	6679	c.6450C>T	c.(6448-6450)gcC>gcT	p.A2150A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2150					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGCATCCTGGGCCTCTACAC	0.617000														26			34		0	0	0.00327116	0	0
CAMTA1	23261	broad.mit.edu	37	1	7151398	7151398	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:7151398A>G	uc001aoi.3	+	3	476	c.269A>G	c.(268-270)cAc>cGc	p.H90R		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTTGAGAAACACGAAGAATGG	0.353000			T	WWTR1	epitheliod hemangioendothelioma									15			4		0	0	0.000602214	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265352	42265353	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:42265352_42265353GG>AA	uc002orm.2	+	2	769_770	c.620_621GG>AA	c.(619-621)agg>aAA	p.R207K		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	207	Ig-like C2-type 1.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AGCGTCAAAAGGAACGATGCAG	0.530000														64			51		0	0	6.4e-05	0	0
MYOZ1	58529	broad.mit.edu	37	10	75393823	75393823	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:75393823C>T	uc001jur.3	-	5	868	c.503_splice	c.e5-1	p.G168_splice		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	168	Gly-rich.				myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGCCTGGTCTCCTGGTAGCCA	0.483000														4			16		0	0	0.000958276	0	0
C1orf116	79098	broad.mit.edu	37	1	207196812	207196812	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:207196812C>T	uc001hfd.2	-	3	556	c.297G>A	c.(295-297)gaG>gaA	p.E99E	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	99						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGTGATGGTCTCCTCTGGAC	0.562000														18			20		0	0	0.00152264	0	0
CALB1	793	broad.mit.edu	37	8	91081277	91081277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:91081277C>T	uc003yel.1	-	4	503	c.321G>A	c.(319-321)tgG>tgA	p.W107*	CALB1_uc011lge.1_Nonsense_Mutation_p.W50*	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	107	EF-hand 3.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CATATTTTCTCCATGTCTGTA	0.323000														14			13		0	0	0.00400662	0	0
ALKBH6	84964	broad.mit.edu	37	19	36505121	36505121	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36505121C>T	uc002ocv.1	-	0	21	c.15G>A	c.(13-15)ggG>ggA	p.G5G	ALKBH6_uc002ocw.1_Silent_p.G5G|ALKBH6_uc002ocx.1_5'UTR|ALKBH6_uc010eeo.1_5'UTR|ALKBH6_uc010eep.1_Silent_p.G5G|BC071809_uc002ocy.3_5'Flank	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	0						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACATCCCCATCCCCCTCCCAG	0.597000														19			18		0	0	0.00121646	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400095	13400095	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:13400095C>T	uc002gob.1	-	1	1438	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	214						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGCGTCTTCTCCATGGTGATC	0.612000														6			22		0	0	0.00278032	0	0
SCN11A	11280	broad.mit.edu	37	3	38962733	38962733	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38962733G>A	uc021wvy.1	-	5	925	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	242					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V241V(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGGCCCCCACGATGACCTTCA	0.542000														18			29		0	0	0.00127121	0	0
LDHAL6A	160287	broad.mit.edu	37	11	18487325	18487325	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:18487325C>T	uc001mop.1	+	3	647	c.386C>T	c.(385-387)cCt>cTt	p.P129L	LDHAL6A_uc001moq.2_Missense_Mutation_p.P129L	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	129					glycolysis	cytoplasm	L-lactate dehydrogenase activity|binding			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	CAGTACAGTCCTCACTGCAAA	0.388000														66			13		0	0	0.00316338	0	0
ADCY1	107	broad.mit.edu	37	7	45725721	45725721	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:45725721T>C	uc003tne.4	+	12	2252	c.2234T>C	c.(2233-2235)tTc>tCc	p.F745S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	745					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCATATTTTTCCGGGTGTCC	0.617000														58			25		0	0	0.00395357	0	0
X97876	0	broad.mit.edu	37	9	66499725	66499725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:66499725G>A	uc004aee.1	+	0	535	c.535G>A	c.(535-537)Gac>Aac	p.D179N	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		CAATCTGCTGGACAGCCTGGG	0.597000														43			7		0	0	0.00198382	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919175	51919175	+	Missense_Mutation	SNP	C	T	T	rs143183042	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:51919175C>T	uc002pwo.3	-	4	1223	c.1001G>A	c.(1000-1002)cGa>cAa	p.R334Q	SIGLEC10_uc002pwp.3_Missense_Mutation_p.R276Q|SIGLEC10_uc021uyl.1_Missense_Mutation_p.R251Q|SIGLEC10_uc002pwq.3_Missense_Mutation_p.R276Q|SIGLEC10_uc010ycz.2_Missense_Mutation_p.R286Q|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.R334Q|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.R146Q|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	334	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GTCCAGGGCTCGCTGCTGGGA	0.682000														46			28		0	0	0.000878237	0	0
APOB	338	broad.mit.edu	37	2	21247979	21247979	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:21247979T>C	uc002red.3	-	15	2390	c.2262A>G	c.(2260-2262)atA>atG	p.I754M		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	754					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGCATTATTCCATTTA	0.443000														176			105		0	0	0.00361006	0	0
MUC15	143662	broad.mit.edu	37	11	26587199	26587199	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:26587199C>T	uc001mqw.3	-	2	561	c.288G>A	c.(286-288)gcG>gcA	p.A96A	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Silent_p.A69A|MUC15_uc001mqy.3_Silent_p.A96A	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	69						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GGGAATGACTCGCCTTGAGAT	0.378000														19			29		0	0	0.00127121	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40686	40686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrGL000218.1:40686C>T	uc011mfn.2	-	2	333	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	LOC100233156_uc003jah.2_Missense_Mutation_p.E82K					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCCTCCAGTTCCTCACAGCGG	0.672000														1			3		0	0	0.000602214	0	0
HIP1	3092	broad.mit.edu	37	7	75191420	75191420	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:75191420G>A	uc003uds.2	-	11	1120	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	HIP1_uc011kfz.2_Missense_Mutation_p.P359S	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	359					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAATTGAAGGGATCACTGCTG	0.423000			T	PDGFRB	CMML									86			30		0	0	0.0024448	0	0
HDC	3067	broad.mit.edu	37	15	50535399	50535399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:50535399C>T	uc001zxz.3	-	10	1525	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N	HDC_uc001zxy.3_Missense_Mutation_p.D138N|HDC_uc010uff.2_Missense_Mutation_p.D362N	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	395					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	AAGGAAGGGTCGTTTCTGACC	0.413000														14			18		0	0	0.00188189	0	0
NUP188	23511	broad.mit.edu	37	9	131745239	131745239	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:131745239C>T	uc004bws.1	+	16	1750	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	576					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATAAGGTCATCAGTACAGACC	0.537000														55			44		0	0	0.00195071	0	0
USH2A	7399	broad.mit.edu	37	1	216348772	216348772	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:216348772G>A	uc001hku.1	-	20	4836	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I	USH2A_uc001hkv.3_Silent_p.I1483I	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1483					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAAGATGGATTGTTGTGC	0.428000										HNSCC(13;0.011)				12			24		0	0	0.00278032	0	0
ALMS1	7840	broad.mit.edu	37	2	73646294	73646294	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:73646294C>T	uc002sje.1	+	2	605	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ALMS1_uc002sjf.1_Missense_Mutation_p.S123F	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	165					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATGGACTCTTCCCAAACCTTG	0.398000														41			27		0	0	0.000720815	0	0
TRANK1	9881	broad.mit.edu	37	3	36899058	36899058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:36899058C>T	uc003cgj.3	-	11	2271	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	675					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTCCAGGCTCCTTCCTGGTC	0.567000														15			15		0	0	0.00244969	0	0
SCN5A	6331	broad.mit.edu	37	3	38639243	38639243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38639243C>T	uc021wvo.1	-	12	2291	c.2239G>A	c.(2239-2241)Gag>Aag	p.E747K	SCN5A_uc021wvk.1_Missense_Mutation_p.E747K|SCN5A_uc021wvl.1_Missense_Mutation_p.E747K|SCN5A_uc021wvm.1_Missense_Mutation_p.E747K|SCN5A_uc021wvn.1_Missense_Mutation_p.E747K|SCN5A_uc021wvp.1_Missense_Mutation_p.E747K|SCN5A_uc021wvq.1_Missense_Mutation_p.E747K|SCN5A_uc021wvr.1_Missense_Mutation_p.E747K|SCN5A_uc021wvs.1_Missense_Mutation_p.E747K|SCN5A_uc021wvt.1_Missense_Mutation_p.E747K|SCN5A_uc021wvu.1_Missense_Mutation_p.E747K|SCN5A_uc021wvv.1_Missense_Mutation_p.E747K|SCN5A_uc021wvj.1_Missense_Mutation_p.E613K|SCN5A_uc021wvi.1_Missense_Mutation_p.E613K|SCN5A_uc021wvw.1_Missense_Mutation_p.E358K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	747					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.E746K(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCAGCATCTCCTCGAATTCA	0.557000														18			16		0	0	0.00074312	0	0
NTRK1	4914	broad.mit.edu	37	1	156849087	156849087	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:156849087A>T	uc001fqh.1	+	14	2035	c.1979A>T	c.(1978-1980)cAg>cTg	p.Q660L	NTRK1_uc001fqf.1_Missense_Mutation_p.Q624L|NTRK1_uc009wsi.1_Missense_Mutation_p.Q359L|NTRK1_uc001fqi.1_Missense_Mutation_p.Q654L|NTRK1_uc009wsk.1_Missense_Mutation_p.Q657L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	660	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTAGTGGGCCAGGGACTGGTG	0.592000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				36			16		0	0	0.00400662	0	0
DZIP1	22873	broad.mit.edu	37	13	96238367	96238367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:96238367C>T	uc001vmk.3	-	20	3094	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	DZIP1_uc001vmj.3_Missense_Mutation_p.E224K|DZIP1_uc001vml.3_Missense_Mutation_p.E729K|DZIP1_uc001vmm.3_5'Flank	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	748					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCAACTTTTTCAGTAGGTGTT	0.313000														23			14		0	0	0.00244969	0	0
OR5I1	10798	broad.mit.edu	37	11	55703451	55703451	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55703451G>A	uc010ris.2	-	0	426	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G141G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACCGCATACAGATGCCCCTAG	0.438000														30			21		0	0	0.000720815	0	0
AK309255	0	broad.mit.edu	37	15	28878745	28878745	+	RNA	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:28878745G>A	uc010aza.1	+	1		c.183G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		GCCTGACCAAGAAATCGTCAC	0.433000														33			4		0	0	0.00198382	0	0
SCN5A	6331	broad.mit.edu	37	3	38592490	38592490	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38592490G>A	uc021wvo.1	-	26	5425	c.5373C>T	c.(5371-5373)ttC>ttT	p.F1791F	SCN5A_uc021wvk.1_Silent_p.F1758F|SCN5A_uc021wvl.1_Silent_p.F1737F|SCN5A_uc021wvm.1_Silent_p.F1773F|SCN5A_uc021wvn.1_Silent_p.F1790F|SCN5A_uc021wvp.1_Silent_p.F1791F|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.F1603F|SCN5A_uc021wvi.1_Silent_p.F1657F	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1791					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGAACATATCGAAGTCGTCCT	0.522000														27			7		0	0	0.00307968	0	0
ARID1B	57492	broad.mit.edu	37	6	157488198	157488198	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:157488198C>T	uc003qqp.3	+	8	2865	c.2865C>T	c.(2863-2865)aaC>aaT	p.N955N	ARID1B_uc003qqo.3_Silent_p.N968N|ARID1B_uc003qqn.3_Silent_p.N955N	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	955					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCGGCATGAACCAGAGTGGAC	0.557000														80			50		0	0	0.00361006	0	0
PAX4	5078	broad.mit.edu	37	7	127254541	127254541	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:127254541G>T	uc010lld.1	-	2	613	c.407C>A	c.(406-408)tCa>tAa	p.S136*	PAX4_uc003vmf.2_Nonsense_Mutation_p.S134*|PAX4_uc003vmg.1_Nonsense_Mutation_p.S136*|PAX4_uc003vmh.3_Nonsense_Mutation_p.S134*	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	144					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCACCTGGTGACCTGAGCCG	0.537000														15			5		5.9392e-07	1.5758e-06	0.00116845	1	0
SPG21	51324	broad.mit.edu	37	15	65262491	65262491	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:65262491G>A	uc002aod.3	-	5	615	c.522C>T	c.(520-522)gaC>gaT	p.D174D	SPG21_uc002aoe.3_Silent_p.D174D|SPG21_uc010bhb.3_Silent_p.D147D	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	174					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CCATCATAGGGTCCACCGGGC	0.398000														207			49		0	0	0.00361006	0	0
OR8K1	390157	broad.mit.edu	37	11	56113702	56113702	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:56113702C>A	uc010rjg.2	+	0	188	c.188C>A	c.(187-189)aCc>aAc	p.T63N		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M65fs*24(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AAGCTACACACCCCCATGTAC	0.438000										HNSCC(65;0.19)				28			38		2.75727e-19	7.52191e-19	0.000953801	1	0
ZNF831	128611	broad.mit.edu	37	20	57766351	57766351	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57766351C>T	uc002yan.3	+	0	277	c.277C>T	c.(277-279)Cct>Tct	p.P93S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	93	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATACTCAGCCCTGTGCTGCA	0.697000														5			5		0	0	0.000602214	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516104	138516104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:138516104C>T	uc010nbd.1	-	4	924	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	224					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAATAGAAATCTCCCTGTCCA	0.463000														59			34		0	0	0.00428921	0	0
LAMC3	10319	broad.mit.edu	37	9	133942459	133942459	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:133942459C>T	uc004caa.1	+	13	2558	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	820	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A820A(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCCAATGCCGTGGGCAACT	0.637000														15			11		0	0	0.000673444	0	0
FUT9	10690	broad.mit.edu	37	6	96651759	96651759	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:96651759C>T	uc003pop.4	+	2	1069	c.728C>T	c.(727-729)tCc>tTc	p.S243F	FUT9_uc021zcw.1_Missense_Mutation_p.S243F	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		TTTTATCTTTCCTTTGAAAAT	0.368000														4			9		0	0	0.000274275	0	0
FAM40B	57464	broad.mit.edu	37	7	129104486	129104486	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:129104486C>T	uc011koy.2	+	15	1723	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FAM40B_uc003vow.3_Silent_p.I561I|FAM40B_uc011koz.2_Silent_p.I53I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	561								p.G560A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTGGGCATCGATGTGAACA	0.478000														207			17		0	0	0.00074312	0	0
NFKBID	84807	broad.mit.edu	37	19	36387017	36387017	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:36387017G>A	uc002oci.1	-	8	1045	c.471C>T	c.(469-471)ctC>ctT	p.L157L	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	157					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TGGCCGTGTGGAGCGGGGTGA	0.642000														45			16		0	0	0.000566183	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401384	77401384	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:77401384G>A	uc002ffc.4	-	3	1151	c.732C>T	c.(730-732)caC>caT	p.H244H	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	244					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ACCTTCGATGGTGATACTCTG	0.483000														34			28		0	0	0.00127121	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	G	G	rs3874227	by1000genomes	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:25161397C>G	uc001upm.3	+	7		c.921C>G			TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript					Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA.																		TGAAACATCTCTACAACTGGA	0.343000														37			4		0	0	0.00116845	0	0
SLC22A14	9389	broad.mit.edu	37	3	38348771	38348771	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:38348771G>A	uc003cib.2	+	1	616	c.543G>A	c.(541-543)acG>acA	p.T181T	SLC22A14_uc010hhc.1_Silent_p.T181T|SLC22A14_uc003cia.2_Silent_p.T181T|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	181						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATGGAGACGAAGAAGGACA	0.547000														41			6		0	0	0.00198382	0	0
MYL1	4632	broad.mit.edu	37	2	211167237	211167237	+	Silent	SNP	G	A	A	rs140441697	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:211167237G>A	uc002vec.3	-	1	264	c.135C>T	c.(133-135)atC>atT	p.I45I	MYL1_uc002veb.3_Intron	NM_079420	NP_524144	P05976	MYL1_HUMAN	Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA.	45				I -> M (in Ref. 1; CAB42646).	muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TAGAGAACTCGATCTGTTAGA	0.368000														17			15		0	0	0.00074312	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125262049	125262049	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:125262049G>A	uc010flu.3	+	7	1607	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	CNTNAP5_uc002tno.3_Missense_Mutation_p.G414R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	414	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G414V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAGGGCTCGGGAACCCTGCT	0.542000														39			20		0	0	0.00152264	0	0
ANK3	288	broad.mit.edu	37	10	61946534	61946534	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:61946534C>A	uc001jky.3	-	16	2362	c.2024G>T	c.(2023-2025)gGg>gTg	p.G675V	ANK3_uc010qih.2_Missense_Mutation_p.G658V|ANK3_uc001jkz.4_Missense_Mutation_p.G669V|ANK3_uc001jlb.1_Missense_Mutation_p.G204V|ANK3_uc001jlc.1_Missense_Mutation_p.G336V	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	675					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCCACGTGCCCTTCCTGAGC	0.517000														11			16		4.7546e-09	1.27176e-08	0.00400662	1	0
TMEM179B	374395	broad.mit.edu	37	11	62556590	62556590	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:62556590C>T	uc001nvd.4	+	1	222	c.192C>T	c.(190-192)taC>taT	p.Y64Y		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	Homo sapiens transmembrane protein 179B (TMEM179B), mRNA.	64						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						CCCTGTGCTACTTTGTAGCTG	0.592000														29			38		0	0	0.00128727	0	0
PTX3	5806	broad.mit.edu	37	3	157160467	157160467	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:157160467C>T	uc003fbl.4	+	2	988	c.845C>T	c.(844-846)tCc>tTc	p.S282F	VEPH1_uc003fbj.2_Intron|VEPH1_uc003fbk.2_Intron|VEPH1_uc010hvu.2_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	Homo sapiens pentraxin 3, long (PTX3), mRNA.	282	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGGCTCACATCCTTGTGGGTA	0.537000														9			25		0	0	0.000878237	0	0
ECSCR	641700	broad.mit.edu	37	5	138837169	138837169	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:138837169C>G	uc011cze.1	-	3	243	c.178G>C	c.(178-180)Gct>Cct	p.A60P		NM_001077693	NP_001071161	Q19T08	ECSCR_HUMAN	Homo sapiens endothelial cell-specific chemotaxis regulator (ECSCR), mRNA.	60					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											GGCCTGTTAGCCTCTGAGGAA	0.562000														76			6		0	0	0.00198382	0	0
KIAA0430	9665	broad.mit.edu	37	16	15703478	15703478	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:15703478G>A	uc002ddr.3	-	19	4063	c.3856C>T	c.(3856-3858)Cct>Tct	p.P1286S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P1120S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P1283S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P1286S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1285						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGTAAGAAGGGATAAATTTA	0.423000														8			27		0	0	0.000720815	0	0
SLC22A23	63027	broad.mit.edu	37	6	3289998	3289998	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:3289998G>T	uc003mvm.3	-	6	1313	c.1313_splice	c.e6+1	p.S438_splice	SLC22A23_uc003mvn.3_Splice_Site_p.S157_splice|SLC22A23_uc003mvo.3_Splice_Site_p.S157_splice|SLC22A23_uc003mvp.1_Splice_Site|SLC22A23_uc010jnn.3_Splice_Site_p.S438_splice|SLC22A23_uc003mvq.1_5'Flank	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	438					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TGTGACTCACGAGTTCACACA	0.607000														16			18		1.01871e-10	2.73821e-10	0.00121646	1	0
BEND7	222389	broad.mit.edu	37	10	13481303	13481303	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:13481303C>T	uc001imm.2	-	8	1573	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N	BEND7_uc001iml.2_Non-coding_Transcript	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	477							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TGCTTGAAGTCTTGGCTGGTT	0.522000														11			36		0	0	0.00170553	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073303	17073303	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:17073303G>A	uc002zlp.1	-	0	398	c.138C>T	c.(136-138)gtC>gtT	p.V46V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	46					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGGCCGGATGACACTGGCCA	0.642000														8			31		0	0	0.001512	0	0
TTC21B	79809	broad.mit.edu	37	2	166805994	166805994	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166805994G>A	uc002udk.3	-	2	305	c.172C>T	c.(172-174)Cga>Tga	p.R58*	TTC21B_uc002udl.3_Nonsense_Mutation_p.R58*	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	58						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCAAATTCTCGAAGAGCTTCT	0.308000														81			41		0	0	0.00195071	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198755	170198755	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:170198755C>T	uc003fgz.2	-	6	1632	c.1316G>A	c.(1315-1317)gGt>gAt	p.G439D	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	439						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			CTTGACAAAACCATCAATGTC	0.507000														4			33		0	0	0.00178596	0	0
CACNA1A	773	broad.mit.edu	37	19	13476242	13476242	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:13476242G>A	uc002mwy.3	-	4	909	c.673C>T	c.(673-675)Cct>Tct	p.P225S	CACNA1A_uc010xnd.2_Missense_Mutation_p.P225S|CACNA1A_uc021ups.1_Missense_Mutation_p.P225S|CACNA1A_uc010xne.2_Missense_Mutation_p.P225S|CACNA1A_uc010dze.2_Missense_Mutation_p.P225S|CACNA1A_uc021upt.1_Missense_Mutation_p.P225S	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	225					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGCAGCAAAGGGATCATCGCC	0.473000														26			21		0	0	0.00152264	0	0
DSG4	147409	broad.mit.edu	37	18	28986336	28986336	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:28986336T>C	uc002kwr.2	+	12	2068	c.1933_splice	c.e12+1	p.L645_splice	DSG4_uc002kwq.2_Splice_Site_p.L645_splice	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	645					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTACTGATTTGTAAGTACTC	0.453000														16			32		0	0	0.00428921	0	0
PATE1	160065	broad.mit.edu	37	11	125617666	125617666	+	Missense_Mutation	SNP	A	T	T	rs149639744	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:125617666A>T	uc001qct.3	+	3	208	c.196A>T	c.(196-198)Ata>Tta	p.I66L	PATE1_uc009zbr.3_Missense_Mutation_p.I54L	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN	Homo sapiens prostate and testis expressed 1 (PATE1), mRNA.	66						extracellular region				large_intestine(1)|lung(5)	6						AGGAAGAGGAATATGCACAGC	0.488000														38			32		0	0	0.00178596	0	0
OR8H2	390151	broad.mit.edu	37	11	55872707	55872707	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55872707C>T	uc010riy.2	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.418000										HNSCC(53;0.14)				116			45		0	0	0.00361006	0	0
HSD3B1	3283	broad.mit.edu	37	1	120050223	120050223	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:120050223G>A	uc001ehv.1	+	1	269	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	42					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CTTCGGACCAGAATTGAGAGA	0.507000														45			93		0	0	0.00361006	0	0
C14orf101	54916	broad.mit.edu	37	14	57114180	57114180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:57114180G>A	uc001xcm.3	+	15	2211	c.2089G>A	c.(2089-2091)Gaa>Aaa	p.E697K	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_Missense_Mutation_p.E230K|C14orf101_uc001xco.3_Missense_Mutation_p.E230K	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	697						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCTAAGAAAAGAACTGCAAAG	0.398000														7			24		0	0	0.00332997	0	0
CSMD1	64478	broad.mit.edu	37	8	2857542	2857542	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:2857542C>T	uc022aqr.1	-	52	8531	c.8141G>A	c.(8140-8142)gGa>gAa	p.G2714E	CSMD1_uc011kwj.2_Missense_Mutation_p.G2044E|CSMD1_uc010lrg.3_Missense_Mutation_p.G725E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2715	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACGGAAGTTCCCACAAGCCG	0.517000														17			10		0	0	0.000673444	0	0
PIGO	84720	broad.mit.edu	37	9	35092248	35092248	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:35092248G>A	uc003zwd.3	-	6	2032	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.P109S	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	546					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGGCCCAGGGATGGGAAAC	0.587000														28			13		0	0	0.00185496	0	0
ITGA7	3679	broad.mit.edu	37	12	56092222	56092222	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:56092222G>A	uc001shh.3	-	6	1369	c.1149C>T	c.(1147-1149)tcC>tcT	p.S383S	ITGA7_uc001shg.3_Silent_p.S379S|ITGA7_uc010sps.2_Silent_p.S286S|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.S266S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	423					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCCGAACATGGAGTCAGGGG	0.632000														5			16		0	0	0.00400662	0	0
CR2	1380	broad.mit.edu	37	1	207640119	207640119	+	Silent	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:207640119A>C	uc001hfw.3	+	1	426	c.307A>C	c.(307-309)Aga>Cga	p.R103R	CR2_uc001hfv.3_Silent_p.R103R|CR2_uc009xch.3_Silent_p.R103R	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	103	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATACAAAATTAGAGGCTCTAC	0.408000														24			34		0	0	0.00375469	0	0
CD84	8832	broad.mit.edu	37	1	160523167	160523167	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:160523167C>T	uc001fwh.4	-	3	840	c.761G>A	c.(760-762)gGt>gAt	p.G254D	CD84_uc001fwf.4_Splice_Site_p.D254_splice|CD84_uc009wtn.3_Splice_Site_p.G254_splice|CD84_uc001fwi.4_Splice_Site_p.D140_splice|CD84_uc001fwg.4_Splice_Site_p.G254_splice|CD84_uc001fwj.3_Missense_Mutation_p.G254D	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	254					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GAAAATCCTACCTTGTCTTCT	0.463000														17			11		0	0	0.000978159	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225161	111225161	+	Missense_Mutation	SNP	G	A	A	rs145220444	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:111225161G>A	uc001plg.4	-	4	851	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	199					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.P198Q(1)		breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		CCCAGGTAGGGCTGGGGCCGG	0.637000			T	BCL6	NHL									15			23		0	0	0.00278032	0	0
RTN3	10313	broad.mit.edu	37	11	63486921	63486921	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:63486921C>T	uc001nxq.3	+	2	1134	c.947C>T	c.(946-948)tCa>tTa	p.S316L	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S204L|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S297L|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	316					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGGCAGTTTTCACACACAAAT	0.428000														44			18		0	0	0.00121646	0	0
BAZ2B	29994	broad.mit.edu	37	2	160240122	160240122	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:160240122G>A	uc002uao.3	-	23	4161	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	BAZ2B_uc002uap.3_Silent_p.L1216L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CTTACTTGCGGAGTTTACCTT	0.303000														19			12		0	0	0.00185496	0	0
NLN	57486	broad.mit.edu	37	5	65088400	65088400	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:65088400G>T	uc003juf.3	+	8	1623	c.1445G>T	c.(1444-1446)gGt>gTt	p.G482V	NLN_uc003jue.3_Missense_Mutation_p.G482V|NLN_uc010iww.3_Missense_Mutation_p.G177V	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	482					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.A481V(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCAGTGGCAGGTCGTCCCTCT	0.557000														31			41		2.95478e-19	8.03406e-19	0.00195071	1	0
TBPL2	387332	broad.mit.edu	37	14	55881145	55881145	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:55881145T>A	uc001xby.3	-	6	1080	c.1080A>T	c.(1078-1080)gaA>gaT	p.E360D	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbx.2_5'Flank	NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	360					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TTTCAAATGCTTCATAGATCT	0.294000														7			13		0	0	0.00244969	0	0
NARS2	79731	broad.mit.edu	37	11	78239982	78239982	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:78239982G>T	uc001ozi.3	-	6	971	c.595_splice	c.e6-1	p.P199_splice	NARS2_uc010rsq.2_Splice_Site	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TTGCCTGAAGGCTGCAAATCA	0.343000														33			30		3.73988e-18	1.01186e-17	0.00106085	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140347959	140347959	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140347959C>T	uc003lii.3	+	0	2213	c.1608C>T	c.(1606-1608)tcC>tcT	p.S536S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.S536S	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	536	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAACTCCTTTGACTATG	0.527000														50			14		0	0	0.00316338	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25573	25573	+	RNA	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrGL000241.1:25573C>T	uc011mgv.2	-	3		c.419G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CCTGAAATTTCACCAAAGTTT	0.328000														193			43		0	0	0.00361006	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579081	44579081	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:44579081G>A	uc003tlb.3	-	1	971	c.915C>T	c.(913-915)ttC>ttT	p.F305F	NPC1L1_uc011kbw.2_Silent_p.F305F|NPC1L1_uc003tlc.3_Silent_p.F305F|NPC1L1_uc003tld.3_Silent_p.F305F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	305					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)	GGGCCACACGGAATCCCACAA	0.602000														74			30		0	0	0.001512	0	0
CCDC158	339965	broad.mit.edu	37	4	77247050	77247050	+	Silent	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:77247050A>G	uc003hkb.4	-	21	3270	c.3117T>C	c.(3115-3117)taT>taC	p.Y1039Y	U7_uc021xpf.1_5'Flank	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1039	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGGCAGATCTATACTGTGATG	0.378000														22			57		0	0	0.00361006	0	0
PAMR1	25891	broad.mit.edu	37	11	35456265	35456265	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:35456265C>T	uc001mwf.3	-	10	1515	c.1472G>A	c.(1471-1473)gGg>gAg	p.G491E	PAMR1_uc001mwg.3_Missense_Mutation_p.G474E|PAMR1_uc010rew.2_Missense_Mutation_p.G363E|PAMR1_uc010rex.2_Missense_Mutation_p.G434E	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	474	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTCATGCACCCCGCTGGTCCT	0.587000														21			27		0	0	0.00127121	0	0
GABRG3	2567	broad.mit.edu	37	15	27777818	27777818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:27777818G>A	uc001zbg.2	+	9	1449	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	399					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TTACTGGCAGGAATTTGAAGA	0.443000														20			16		0	0	0.00316338	0	0
OBSCN	84033	broad.mit.edu	37	1	228403514	228403514	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:228403514C>T	uc009xez.1	+	5	2123	c.2079C>T	c.(2077-2079)atC>atT	p.I693I	OBSCN_uc001hsn.3_Silent_p.I693I|AK056556_uc001hsm.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	693	Ig-like 6.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAGCAGCATCCGGATGGAGG	0.667000														7			9		0	0	0.000673444	0	0
PHKA1	5255	broad.mit.edu	37	X	71840574	71840574	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:71840574C>T	uc004eax.4	-	19	2438	c.2137_splice	c.e19+1	p.N713_splice	PHKA1_uc004eay.4_Splice_Site_p.N713_splice|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	713					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GCATTACTCACTCTGTACATG	0.507000														4			6		0	0	0.00116845	0	0
XIRP2	129446	broad.mit.edu	37	2	168107797	168107797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:168107797G>A	uc002udx.3	+	8	9984	c.9895G>A	c.(9895-9897)Gtt>Att	p.V3299I	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.V3124I|XIRP2_uc010fpq.3_Missense_Mutation_p.V3077I|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3124					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATCCGCAAGGTTGCAGTGCC	0.453000														57			36		0	0	0.00285205	0	0
LCP2	3937	broad.mit.edu	37	5	169697901	169697901	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:169697901A>C	uc003man.1	-	6	552	c.345T>G	c.(343-345)agT>agG	p.S115R	LCP2_uc011det.1_5'UTR|LCP2_uc010jjo.1_5'Flank	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	115					T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CATCATTGGGACTTTCATAAT	0.552000														15			5		0	0	0.00198382	0	0
PDZD4	57595	broad.mit.edu	37	X	153069032	153069032	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:153069032C>T	uc004fja.1	-	7	2354	c.2104G>A	c.(2104-2106)Gag>Aag	p.E702K	PDZD4_uc004fiy.1_Missense_Mutation_p.E621K|PDZD4_uc004fiz.1_Missense_Mutation_p.E696K|PDZD4_uc004fix.2_Missense_Mutation_p.E600K|PDZD4_uc011mze.1_Missense_Mutation_p.E587K|PDZD4_uc022chy.1_Missense_Mutation_p.E75K	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	696						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCATGAACTCGCGCCGCTTC	0.637000														12			19		0	0	0.00229938	0	0
TMED5	50999	broad.mit.edu	37	1	93621928	93621928	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:93621928G>T	uc001dpn.3	-	2	847	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_Missense_Mutation_p.Q134K	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	134					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		TCTTGTTCTTGTGCCTGTTCT	0.343000														48			12		0.00010058	0.000264726	0.00136819	1	0
POLQ	10721	broad.mit.edu	37	3	121208413	121208413	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:121208413C>A	uc003eee.4	-	15	3494	c.3365G>T	c.(3364-3366)tGt>tTt	p.C1122F	POLQ_uc003eed.3_Missense_Mutation_p.C294F	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1122					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTTCCATGAACAATTTTGCTT	0.333000								DNA polymerases (catalytic subunits)						38			6		2.7689e-08	7.38223e-08	0.00198382	1	0
MED12	9968	broad.mit.edu	37	X	70356419	70356419	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:70356419C>T	uc004dyy.3	+	36	5513	c.5314C>T	c.(5314-5316)Ccg>Tcg	p.P1772S	MED12_uc011mpq.1_Missense_Mutation_p.P1772S|MED12_uc004dyz.3_Missense_Mutation_p.P1772S|MED12_uc004dza.3_Missense_Mutation_p.P1619S|MED12_uc010nla.3_Missense_Mutation_p.P398S	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1772	Interaction with CTNNB1 and GLI3.|Pro-rich.				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	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor 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)					AACTGACAAACCGGGGGCTGC	0.612000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							3			5		0	0	0.000602214	0	0
NMI	9111	broad.mit.edu	37	2	152139408	152139408	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:152139408C>T	uc002txi.2	-	1	385	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	NMI_uc010zbx.1_Missense_Mutation_p.E19K|NMI_uc002txj.2_Missense_Mutation_p.E19K	NM_004688	NP_004679	Q13287	NMI_HUMAN	Homo sapiens N-myc (and STAT) interactor (NMI), mRNA.	19					JAK-STAT cascade|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		TTTATAAATTCATCTGGCGAA	0.259000														43			17		0	0	0.00395357	0	0
SERPINB2	5055	broad.mit.edu	37	18	61564405	61564405	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:61564405G>A	uc010xeu.2	+	4	702	c.369G>A	c.(367-369)ctG>ctA	p.L123L	SERPINB2_uc002ljo.3_Silent_p.L123L|SERPINB2_uc002ljp.1_5'UTR|SERPINB2_uc002ljq.1_5'UTR	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	123					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATTATTTACTGGAAAGTGTCA	0.423000														38			8		0	0	0.000274275	0	0
SCN2A	6326	broad.mit.edu	37	2	166179830	166179830	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:166179830C>T	uc002udc.3	+	11	2126	c.1836C>T	c.(1834-1836)ttC>ttT	p.F612F	SCN2A_uc002udd.3_Silent_p.F612F|SCN2A_uc002ude.3_Silent_p.F612F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	612					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTCTCTGTTCGTGCCGCACA	0.557000														16			10		0	0	0.000673444	0	0
USH2A	7399	broad.mit.edu	37	1	216172359	216172359	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:216172359T>C	uc001hku.1	-	33	6914	c.6527A>G	c.(6526-6528)tAt>tGt	p.Y2176C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2176	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATATAATACATAGCGTTCCAG	0.313000										HNSCC(13;0.011)				56			11		0	0	0.00185496	0	0
NIN	51199	broad.mit.edu	37	14	51223778	51223778	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:51223778G>A	uc001wyi.3	-	17	4161	c.3970C>T	c.(3970-3972)Ctg>Ttg	p.L1324L	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.L1324L|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.L1324L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1324					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCAAAACCAGAACATTCAGC	0.458000			T	PDGFRB	MPD									12			17		0	0	0.00400662	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000														122			6		0	0	0.00116845	0	0
NEB	4703	broad.mit.edu	37	2	152422108	152422108	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:152422108C>T	uc021vrb.1	-	86	13199	c.13170G>A	c.(13168-13170)aaG>aaA	p.K4390K	NEB_uc002txr.3_Silent_p.K856K|NEB_uc002txu.3_Silent_p.K6091K|NEB_uc021vrc.1_Silent_p.K6091K|NEB_uc010fnx.3_Silent_p.K4378K|NEB_uc021vrd.1_Silent_p.K4390K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4390					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGCATTTTTCTTATATTTGA	0.393000														6			3		0	0	6.4e-05	0	0
ZNF615	284370	broad.mit.edu	37	19	52497018	52497018	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52497018G>A	uc002pyf.2	-	6	1661	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.F437F|ZNF615_uc002pyh.2_Silent_p.F448F|ZNF615_uc010epi.2_Silent_p.F444F|ZNF615_uc002pyg.2_Silent_p.F329F|ZNF615_uc010ydg.2_Silent_p.F442F	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TCTTCAAAGCGAAGCCCTTTC	0.438000														17			23		0	0	0.00332997	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107039	107039	+	RNA	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrGL000211.1:107039G>A	uc003boa.3	+	3		c.738G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTGTGACAAAGAAAATAGAAC	0.373000														118			10		0	0	0.00185496	0	0
RELN	5649	broad.mit.edu	37	7	103136328	103136328	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:103136328C>T	uc022ajr.1	-	56	9371	c.9211G>A	c.(9211-9213)Gaa>Aaa	p.E3071K	RELN_uc022ajq.1_Missense_Mutation_p.E3071K|RELN_uc010liz.3_Missense_Mutation_p.E3071K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3071					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTCCAGTTTTCTTCATGGGAA	0.378000														7			70		0	0	0.00361006	0	0
ZNF71	58491	broad.mit.edu	37	19	57133208	57133209	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:57133208_57133209CC>TT	uc002qnm.4	+	2	791_792	c.553_554CC>TT	c.(553-555)ccc>TTc	p.P185F	ZNF71_uc021vcg.1_Missense_Mutation_p.P185F	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	185						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGCGAGAAGCCCTATGCCTGC	0.634000														16			15		0	0	6.4e-05	0	0
EPPK1	83481	broad.mit.edu	37	8	144945296	144945296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:144945296C>T	uc003zaa.1	-	0	2139	c.2126G>A	c.(2125-2127)gGc>gAc	p.G709D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	709						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACGATGAGGCCCTTCTGCAT	0.677000														33			8		0	0	0.000274275	0	0
CPA2	1358	broad.mit.edu	37	7	129919431	129919431	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:129919431C>T	uc003vpq.3	+	8	935	c.916C>T	c.(916-918)Cac>Tac	p.H306Y		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	306					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CATTACCCTCCACAGCTATTC	0.438000														159			14		0	0	0.00244969	0	0
PRRC2C	23215	broad.mit.edu	37	1	171549096	171549096	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:171549096C>T	uc010pmg.2	+	27	7662	c.7396C>T	c.(7396-7398)Cca>Tca	p.P2466S	PRRC2C_uc010pmh.2_Missense_Mutation_p.P1378S|PRRC2C_uc010pmi.2_Missense_Mutation_p.P303S|PRRC2C_uc010pmj.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2466	Gln-rich.						protein C-terminus binding										CTCACTTCAACCATATAGGTA	0.438000														9			12		0	0	0.00136819	0	0
ZYX	7791	broad.mit.edu	37	7	143079964	143079964	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:143079964C>T	uc003wcx.3	+	4	730	c.572C>T	c.(571-573)gCc>gTc	p.A191V	ZYX_uc011ktd.2_Missense_Mutation_p.A34V|ZYX_uc003wcw.3_Missense_Mutation_p.A191V|ZYX_uc011kte.2_Missense_Mutation_p.A160V|ZYX_uc011ktf.2_Missense_Mutation_p.A34V	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	191					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					AAGCCTGCAGCCGGGGGCACA	0.617000														17			43		0	0	0.0025221	0	0
CHST14	113189	broad.mit.edu	37	15	40764480	40764480	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:40764480C>T	uc001zlw.3	+	0	1321	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	356					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTAAGTATATCCTGGACTTCT	0.622000														66			24		0	0	0.00278032	0	0
WNK2	65268	broad.mit.edu	37	9	96021501	96021501	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:96021501C>T	uc004ati.1	+	10	2671	c.2671C>T	c.(2671-2673)Cca>Tca	p.P891S	WNK2_uc011lud.1_Missense_Mutation_p.P891S|WNK2_uc004atj.3_Missense_Mutation_p.P891S|WNK2_uc004atk.3_Missense_Mutation_p.P528S|WNK2_uc010mrc.1_Missense_Mutation_p.P839S	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	891					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGCCGTAGCCCCACCGGGCGT	0.687000														17			4		0	0	0.00024832	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320656	78320656	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:78320656G>A	uc010thy.1	+	3	475	c.432G>A	c.(430-432)agG>agA	p.R144R	SLAIN1_uc001vkk.2_Silent_p.R67R|SLAIN1_uc010thz.1_Silent_p.R22R|SLAIN1_uc001vkl.1_Silent_p.R23R|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Silent_p.R23R	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	286	Pro-rich.									breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TAGGTCTCAGGCAAGATTATG	0.318000														50			10		0	0	0.000673444	0	0
PSG8	440533	broad.mit.edu	37	19	43268192	43268192	+	Silent	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:43268192A>G	uc002ouo.2	-	1	404	c.306T>C	c.(304-306)taT>taC	p.Y102Y	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Silent_p.Y102Y|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	102	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATGCATTGGAATATATTGTTT	0.428000														242			98		0	0	0.00361006	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:109031524C>T	uc003dxo.3	-	2	296	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000														41			19		0	0	0.00121646	0	0
OR1A1	8383	broad.mit.edu	37	17	3118944	3118944	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:3118944G>A	uc010vrc.2	+	0	30	c.30G>A	c.(28-30)ctG>ctA	p.L10L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CCTCTACACTGGAATTCATCC	0.408000														4			48		0	0	0.00361006	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671482	238671482	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:238671482C>T	uc002vxe.3	+	10	1418	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.L352F|LRRFIP1_uc002vxf.3_Missense_Mutation_p.L320F	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	376					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAGCCAAATTCTTGAGAGCAG	0.493000														42			26		0	0	0.000720815	0	0
PLCB4	5332	broad.mit.edu	37	20	9319684	9319685	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:9319684_9319685GG>AA	uc021wam.1	+	4	384	c.369_splice	c.e4+1	p.K123_splice	PLCB4_uc010gbw.1_Splice_Site_p.K123_splice|PLCB4_uc010gbx.3_Splice_Site_p.K123_splice|PLCB4_uc021wal.1_Splice_Site_p.K123_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	123					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAGTAACTAAGGTAGCTTCAGT	0.371000														6			15		0	0	6.4e-05	0	0
MYH1	4619	broad.mit.edu	37	17	10411227	10411227	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:10411227G>A	uc002gmo.3	-	16	2038	c.1944C>T	c.(1942-1944)ttC>ttT	p.F648F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	648	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			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						ACACAGTCTGGAAAGAAGAAC	0.408000														13			53		0	0	0.00361006	0	0
CDH17	1015	broad.mit.edu	37	8	95174318	95174318	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:95174318G>A	uc003ygh.2	-	10	1480	c.1355C>T	c.(1354-1356)tCa>tTa	p.S452L	CDH17_uc011lgo.1_Missense_Mutation_p.S238L|CDH17_uc011lgp.1_Missense_Mutation_p.S452L	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	452	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTCACATCTGATTTTTCAAA	0.333000														15			20		0	0	0.00152264	0	0
FMNL2	114793	broad.mit.edu	37	2	153485004	153485004	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:153485004C>T	uc002tye.3	+	17	2724	c.2357C>T	c.(2356-2358)gCc>gTc	p.A786V	FMNL2_uc010fob.3_Missense_Mutation_p.A242V|FMNL2_uc002tyf.3_Missense_Mutation_p.A235V	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	786	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ACCATCATGGCCTTCATTGGG	0.473000														62			45		0	0	0.00321405	0	0
SIRPG	55423	broad.mit.edu	37	20	1615937	1615937	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:1615937C>T	uc002wfm.1	-	3	1122	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	353					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GAGCTCTGGTCCTTCTGGTGG	0.458000														9			25		0	0	0.00395357	0	0
RNF214	257160	broad.mit.edu	37	11	117152666	117152666	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:117152666C>T	uc001pqt.3	+	10	1437	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P	RNF214_uc001pqu.3_Silent_p.P464P|RNF214_uc010rxf.2_Silent_p.P309P	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	464	Pro-rich.						zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		CTCGGATGCCCTTCTCCATTG	0.552000														98			33		0	0	0.00375469	0	0
TACR1	6869	broad.mit.edu	37	2	75425896	75425896	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:75425896C>T	uc002sng.2	-	0	750	c.165G>A	c.(163-165)tgG>tgA	p.W55*	TACR1_uc002snh.3_Nonsense_Mutation_p.W55*	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	55					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTAAGATGATCCACATCACTA	0.522000														15			9		0	0	0.000274275	0	0
MICALCL	84953	broad.mit.edu	37	11	12315468	12315468	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:12315468G>A	uc001mkg.1	+	2	781	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	164					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)		AGCCAGGAAGGAAGAAGAGGG	0.552000														36			5		0	0	0.00116845	0	0
GRIK1	2897	broad.mit.edu	37	21	30934004	30934004	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr21:30934004T>C	uc002yno.1	-	14	2761	c.2297A>G	c.(2296-2298)aAc>aGc	p.N766S	GRIK1_uc002ynn.3_Missense_Mutation_p.N751S|GRIK1_uc011acs.2_Missense_Mutation_p.N766S|GRIK1_uc011act.2_Missense_Mutation_p.N627S	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	766					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTGAGTGAGGTTGCAGTTTCT	0.507000														8			29		0	0	0.00283554	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924526	43924526	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:43924526G>A	uc001zsh.3	-	11	1647	c.1432C>T	c.(1432-1434)Ctg>Ttg	p.L478L	STRC_uc010udz.1_Non-coding_Transcript|CATSPER2_uc010bdm.3_Non-coding_Transcript|CATSPER2_uc001zsi.3_Silent_p.L476L|CATSPER2_uc001zsj.3_Silent_p.L476L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	478					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.G478E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCCCGGGCAGATTTTCGTGC	0.458000														3			10		0	0	0.000442599	0	0
HEPACAM	220296	broad.mit.edu	37	11	124794949	124794949	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:124794949C>T	uc001qbk.3	-	1	508	c.102G>A	c.(100-102)gtG>gtA	p.V34V	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.V34V	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	34	Ig-like V-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane		p.G33R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TGGTGATGTTCACCCCCTCCA	0.602000														18			12		0	0	0.00244969	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783075	140783075	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140783075G>A	uc003lkh.2	+	0	556	c.556G>A	c.(556-558)Gac>Aac	p.D186N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.D186N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	186	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACTGGAGACAATGGAGC	0.607000														25			5		0	0	0.000602214	0	0
TMEM246	84302	broad.mit.edu	37	9	104238636	104238636	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:104238636G>A	uc004bbm.3	-	1	1061	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Missense_Mutation_p.H247Y	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	247						integral to membrane											CTCTCGGGGTGATACAGCTTG	0.537000														53			17		0	0	0.000958276	0	0
FBXL2	25827	broad.mit.edu	37	3	33400835	33400835	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:33400835C>T	uc003cfp.3	+	3	252	c.181C>T	c.(181-183)Caa>Taa	p.Q61*	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Intron|FBXL2_uc021wuy.1_Nonsense_Mutation_p.Q61*|FBXL2_uc011axo.2_5'UTR|FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	61					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TTTTAACTTTCAAACAGATGT	0.378000														23			5		0	0	0.000602214	0	0
WDR48	57599	broad.mit.edu	37	3	39119691	39119691	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:39119691A>G	uc003cit.3	+	9	1046	c.1036A>G	c.(1036-1038)Ata>Gta	p.I346V	WDR48_uc011ayt.1_Missense_Mutation_p.I337V|WDR48_uc011ayu.1_Missense_Mutation_p.I264V|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	346					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TACAAATCCTATAACACCTCT	0.328000														37			42		0	0	0.0025221	0	0
CCDC27	148870	broad.mit.edu	37	1	3683812	3683812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:3683812G>A	uc001akv.2	+	9	1627	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	516										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GTCGGAACTGGAGAGAAAGCT	0.552000														19			6		0	0	0.00198382	0	0
OTOF	9381	broad.mit.edu	37	2	26703111	26703111	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:26703111C>T	uc002rhk.3	-	15	1999	c.1872G>A	c.(1870-1872)cgG>cgA	p.R624R	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	624					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R624L(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCGTTTCTCCGGTCGATCA	0.582000														32			31		0	0	0.00375469	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152602	50152602	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:50152602G>A	uc001zxu.3	-	27	3510	c.3368C>T	c.(3367-3369)tCa>tTa	p.S1123L	ATP8B4_uc010ber.3_Missense_Mutation_p.S996L|ATP8B4_uc010ufd.2_Missense_Mutation_p.S933L|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.S126L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1123					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTTGAGCTTGACCTGCGGGT	0.512000														30			17		0	0	0.00400662	0	0
TMEM52	339456	broad.mit.edu	37	1	1849327	1849327	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:1849327G>A	uc001aij.2	-	4	660	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TMEM52_uc001aii.2_Silent_p.A193A	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	208						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCTTCAAGGGGCACCAGGGC	0.622000														45			52		0	0	0.00361006	0	0
LYN	4067	broad.mit.edu	37	8	56863018	56863018	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:56863018G>T	uc003xsk.4	+	5	567	c.285_splice	c.e5-1	p.E95_splice	LYN_uc003xsl.4_Splice_Site_p.E74_splice	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	95	SH3.				T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus	Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TCTATTCTAGGCATGGAGAAT	0.353000														92			34		1.96642e-18	5.33788e-18	0.00148497	1	0
GPR156	165829	broad.mit.edu	37	3	119962558	119962559	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:119962558_119962559CC>TT	uc011bjf.2	-	1	541_542	c.161_162GG>AA	c.(160-162)tgg>tAA	p.W54*	GPR156_uc011bjg.2_Nonsense_Mutation_p.W54*	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	54						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TGAGAAAAGTCCAAACAATACC	0.436000														32			16		0	0	6.4e-05	0	0
PLD1	5337	broad.mit.edu	37	3	171405323	171405323	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:171405323G>A	uc003fhs.3	-	14	1938	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	PLD1_uc003fht.3_Missense_Mutation_p.P531S	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	531	Catalytic.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTTTGAACAGGCTCATTTTTA	0.363000														8			20		0	0	0.00188189	0	0
CLEC18B	497190	broad.mit.edu	37	16	74447022	74447022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:74447022G>A	uc002fct.3	-	4	789	c.589C>T	c.(589-591)Ccc>Tcc	p.P197S	CLEC18B_uc002fcu.3_Missense_Mutation_p.P197S|CLEC18B_uc010vmu.1_Missense_Mutation_p.P117S|CLEC18B_uc010vmv.1_5'Flank	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	197						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCTTATAGGGGATGATTGTC	0.617000														53			33		0	0	0.0024448	0	0
LILRB3	11025	broad.mit.edu	37	19	54802513	54802513	+	Missense_Mutation	SNP	G	A	A	rs146793217		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54802513G>A	uc002qfd.3	-	4	1020	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.P246S	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	309	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCGCTGGGGGCCGACCAC	0.672000														64			6		0	0	0.00185496	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464851	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:51464851G>A	uc001jio.3	-	6	1731	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTG	0.552000														27			68		0	0	0.00361006	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495366	20495366	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:20495366G>A	uc001ytf.1	+	5		c.569_splice	c.e5-1							Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TCCCTCACAGGATGAAGACAT	0.418000														245			8		0	0	0.000274275	0	0
LGI2	55203	broad.mit.edu	37	4	25005407	25005407	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:25005407G>A	uc003grf.2	-	7	1403	c.1304C>T	c.(1303-1305)tCc>tTc	p.S435F		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	435						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GCGGGTAAGGGAAAGGTAGAG	0.532000														33			99		0	0	0.00361006	0	0
COL6A2	1292	broad.mit.edu	37	21	47532027	47532027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr21:47532027G>A	uc002zia.1	+	2	332	c.250G>A	c.(250-252)Gag>Aag	p.E84K	COL6A2_uc002zhz.1_Missense_Mutation_p.E84K|COL6A2_uc002zhy.1_Missense_Mutation_p.E84K	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	84	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCTGCAGAACGAGTTCTACCT	0.642000														8			20		0	0	0.00229938	0	0
LILRA1	11024	broad.mit.edu	37	19	55112240	55112240	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55112240G>A	uc002qgh.1	+	9	1610	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	476					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTCCTCGGGATTCTGCTAT	0.572000														17			20		0	0	0.00121646	0	0
KRT26	353288	broad.mit.edu	37	17	38926624	38926625	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:38926624_38926625CC>TT	uc002hvf.3	-	2	607_608	c.561_562GG>AA	c.(559-564)gaggcc>gaAAcc	p.A188T		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	188	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.A188A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTGGTGTCGGCCTCAACACTGT	0.485000														11			29		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179646988	179646988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179646988G>A	uc021vsy.1	-	19	3556	c.3331C>T	c.(3331-3333)Ccc>Tcc	p.P1111S	TTN_uc021vsz.1_Missense_Mutation_p.P1065S|TTN_uc021vta.1_Missense_Mutation_p.P1065S|TTN_uc021vtb.1_Missense_Mutation_p.P1065S|TTN_uc002unb.2_Missense_Mutation_p.P1111S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1111	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I1110S(1)|p.I1110T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATACATGGGGCTTTGGGTTG	0.463000														47			24		0	0	0.000720815	0	0
SIDT1	54847	broad.mit.edu	37	3	113303575	113303575	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:113303575G>A	uc021xcn.1	+	7	1517	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.R289Q|SIDT1_uc011big.2_Missense_Mutation_p.R42Q	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	289						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATCTACAGCGAAAAAAGAAC	0.353000														47			42		0	0	0.00361006	0	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305735	39305735	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:39305735G>A	uc002hwb.3	-	0	320	c.285C>T	c.(283-285)tgC>tgT	p.C95C		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	100	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggggcagcagcaggtggtcc	0.657000														7			16		0	0	0.000566183	0	0
PDE8B	8622	broad.mit.edu	37	5	76722338	76722338	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:76722338G>A	uc003kfa.3	+	21	2662	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PDE8B_uc003kfd.3_Missense_Mutation_p.D826N|PDE8B_uc003kfe.3_Missense_Mutation_p.D776N|PDE8B_uc003kfb.3_Missense_Mutation_p.D853N|PDE8B_uc003kfc.3_Missense_Mutation_p.D818N	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	873					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GACACTAGATGACCTAAAGTG	0.473000														79			76		0	0	0.00361006	0	0
ASPM	259266	broad.mit.edu	37	1	197071457	197071457	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:197071457G>A	uc001gtu.3	-	17	7181	c.6924C>T	c.(6922-6924)ttC>ttT	p.F2308F	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.F156F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2308					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTACCTGAAGGAACTGTAAGT	0.388000														33			48		0	0	0.00361006	0	0
SPNS3	201305	broad.mit.edu	37	17	4391118	4391118	+	Missense_Mutation	SNP	G	A	A	rs143122022		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:4391118G>A	uc002fxt.3	+	11	1512	c.1468G>A	c.(1468-1470)Gat>Aat	p.D490N	SPNS3_uc002fxu.3_Missense_Mutation_p.D363N|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	490					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGACAGCAATGATGTGGACAG	0.627000														74			14		0	0	0.00121646	0	0
LILRB5	10990	broad.mit.edu	37	19	54759924	54759924	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54759924G>A	uc010yer.1	-	3	721	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.L213L|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.L213L|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	213	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAATCTCCAGGAGGTCACTG	0.502000														32			31		0	0	0.00111076	0	0
CEP350	9857	broad.mit.edu	37	1	180062821	180062821	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:180062821C>T	uc001gnt.3	+	33	7964	c.7581C>T	c.(7579-7581)gcC>gcT	p.A2527A	CEP350_uc009wxl.2_Silent_p.A2526A|CEP350_uc001gnv.3_Silent_p.A662A|CEP350_uc001gnw.1_Silent_p.A284A|CEP350_uc001gnx.1_Silent_p.A284A	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2527	CAP-Gly.					centrosome|nucleus|spindle		p.W2526L(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATTTTGGGCCGGAGTGGAGT	0.383000														52			16		0	0	0.00316338	0	0
ZNF671	79891	broad.mit.edu	37	19	58232711	58232711	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:58232711C>T	uc002qpz.4	-	3	842	c.743G>A	c.(742-744)aGa>aAa	p.R248K	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.R171K|ZNF671_uc010yhf.2_Missense_Mutation_p.R150K	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAAAAGTCTCTCCTACCTTT	0.517000														28			20		0	0	0.00121646	0	0
TNFSF8	944	broad.mit.edu	37	9	117666367	117666367	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:117666367C>T	uc004bji.2	-	3	841	c.549G>A	c.(547-549)acG>acA	p.T183T	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.T183T(4)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ATACGTGTTTCGTTTGCATTC	0.418000														47			51		0	0	0.00361006	0	0
HECW1	23072	broad.mit.edu	37	7	43508655	43508655	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:43508655G>A	uc003tid.1	+	15	3655	c.3050G>A	c.(3049-3051)cGg>cAg	p.R1017Q	HECW1_uc011kbi.1_Missense_Mutation_p.R983Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1017					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCAGACACTCGGCTGGAACTG	0.552000														54			36		0	0	0.00170553	0	0
CSTF3	1479	broad.mit.edu	37	11	33121205	33121205	+	Nonsense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:33121205A>C	uc001muh.3	-	10	1051	c.885T>G	c.(883-885)taT>taG	p.Y295*	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	295					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGGCAGCTTCATACCAAATAT	0.383000														19			16		0	0	0.00121646	0	0
ZNF831	128611	broad.mit.edu	37	20	57768817	57768817	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:57768817G>A	uc002yan.3	+	0	2743	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	915						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGCCCCCGCAGAGCACCCCTC	0.637000														20			22		0	0	0.00229938	0	0
TTC13	79573	broad.mit.edu	37	1	231059650	231059650	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:231059650C>G	uc001huf.4	-	14	1793	c.1751G>C	c.(1750-1752)tGg>tCg	p.W584S	TTC13_uc001hug.4_Missense_Mutation_p.W531S|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Missense_Mutation_p.W474S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	584							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTGATCTAACCACAGCACGGG	0.393000														30			44		0	0	0.00361006	0	0
LCE1B	353132	broad.mit.edu	37	1	152785193	152785193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:152785193C>T	uc001faq.3	+	0	747	c.271C>T	c.(271-273)Cag>Tag	p.Q91*		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	Homo sapiens late cornified envelope 1B (LCE1B), mRNA.	91	Gly-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACAGACCCCAGAGCTCTGG	0.672000														12			38		0	0	0.00111076	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147336363	147336363	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:147336363A>C	uc003weu.2	+	12	2579	c.2063A>C	c.(2062-2064)tAt>tCt	p.Y688S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	688	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TATGTCTCCTATTTCTGCAAG	0.453000										HNSCC(39;0.1)				42			13		0	0	0.00400662	0	0
OR4M2	390538	broad.mit.edu	37	15	22368991	22368991	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:22368991G>C	uc010tzu.2	+	0	514	c.416G>C	c.(415-417)cGt>cCt	p.R139P	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATGAATCAACGTCTCTGCTGT	0.517000														432			58		0	0	0.00361006	0	0
UNC5C	8633	broad.mit.edu	37	4	96140178	96140178	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:96140178G>A	uc003hto.3	-	8	1940	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	UNC5C_uc010ilc.2_Silent_p.S548S|UNC5C_uc003htq.3_Silent_p.S548S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	529	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.S529S(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCGGTACAGGATGGATCAG	0.488000														8			22		0	0	0.00332997	0	0
MUC16	94025	broad.mit.edu	37	19	9063486	9063486	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:9063486G>A	uc002mkp.3	-	2	24164	c.23960C>T	c.(23959-23961)tCc>tTc	p.S7987F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7989	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						TAATGTGGAGGAAACAGGAGA	0.473000														20			18		0	0	0.00074312	0	0
CNTN6	27255	broad.mit.edu	37	3	1367620	1367620	+	Silent	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:1367620A>G	uc003boz.3	+	8	1335	c.1068A>G	c.(1066-1068)gaA>gaG	p.E356E	CNTN6_uc011asj.2_Silent_p.E284E|CNTN6_uc003bpa.3_Silent_p.E356E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	356	Ig-like C2-type 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAAATGGTGAACGACTCAACC	0.358000														32			5		0	0	0.00116845	0	0
TLN2	83660	broad.mit.edu	37	15	62989971	62989971	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:62989971C>T	uc002alb.4	+	11	1377	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	459					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGCGCTCGGGCTCCAGCGGGC	0.657000														26			28		0	0	0.00106085	0	0
SLIT1	6585	broad.mit.edu	37	10	98799763	98799763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:98799763G>A	uc001kmw.2	-	20	2531	c.2279C>T	c.(2278-2280)cCc>cTc	p.P760L	SLIT1_uc009xvh.1_Missense_Mutation_p.P770L	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	760	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GACATTCTTGGGAATGCCCTT	0.657000														9			14		0	0	0.00316338	0	0
PARP15	165631	broad.mit.edu	37	3	122340362	122340362	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:122340362C>T	uc003efm.2	+	7	1201	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	PARP15_uc003efn.2_Missense_Mutation_p.P253S|PARP15_uc003efo.1_Missense_Mutation_p.P126S|PARP15_uc003efp.1_Missense_Mutation_p.P145S|PARP15_uc011bjt.1_Missense_Mutation_p.P145S	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	357	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AATTCATGTTCCTGGGGGAAA	0.408000														38			12		0	0	0.00136819	0	0
CRTAM	56253	broad.mit.edu	37	11	122722418	122722418	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:122722418T>C	uc001pyj.3	+	2	211	c.211T>C	c.(211-213)Tac>Cac	p.Y71H		NM_019604	NP_062550	O95727	CRTAM_HUMAN	Homo sapiens cytotoxic and regulatory T cell molecule (CRTAM), mRNA.	71	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		AAATTCCAAATACCAGCTTCT	0.453000														51			26		0	0	0.00178596	0	0
PLIN3	10226	broad.mit.edu	37	19	4839218	4839218	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:4839218C>T	uc002mbj.2	-	7	1468	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	PLIN3_uc002mbk.2_Missense_Mutation_p.E419K|PLIN3_uc002mbl.3_Missense_Mutation_p.E430K	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	431					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTCTTCTCCTCCGGGGCTTTC	0.587000														49			36		0	0	0.000953801	0	0
KIF5C	3800	broad.mit.edu	37	2	149840163	149840163	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:149840163G>A	uc010zbu.2	+	14	1994	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Silent_p.L85L	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	533					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGAGAGAGCTGAGCCAGCTAC	0.413000														21			10		0	0	0.000978159	0	0
NCOA2	10499	broad.mit.edu	37	8	71069053	71069053	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:71069053G>A	uc003xyn.1	-	10	1709	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	516					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			AACTCCCACAGGGGAATGCAA	0.572000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									30			11		0	0	0.000673444	0	0
C12orf26	84190	broad.mit.edu	37	12	82796892	82796892	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:82796892T>A	uc001szq.3	+	4	1331	c.1262T>A	c.(1261-1263)tTt>tAt	p.F421Y		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	421								p.E420A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTGAAGAATTTGAAAACCAG	0.368000														8			20		0	0	0.00332997	0	0
ATG7	10533	broad.mit.edu	37	3	11356956	11356956	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:11356956C>G	uc003bwc.3	+	6	784	c.667C>G	c.(667-669)Caa>Gaa	p.Q223E	ATG7_uc003bwd.3_Missense_Mutation_p.Q223E|ATG7_uc011aum.2_Missense_Mutation_p.Q184E	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	223					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						CTTCCAAGGTCAAAGGACGAA	0.343000														12			4		0	0	0.00024832	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532280	40532280	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:40532280C>T	uc003xnr.3	-	4	666	c.520G>A	c.(520-522)Gca>Aca	p.A174T	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	174						nucleus	DNA binding|zinc ion binding	p.A173V(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			GCAACTCTTGCCGCATTCTTT	0.478000														65			64		0	0	0.00361006	0	0
OR6C2	341416	broad.mit.edu	37	12	55846667	55846667	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:55846667C>T	uc001sgz.1	+	0	670	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CAGAACAATTCTGAAGTTCCC	0.398000														12			62		0	0	0.00361006	0	0
SLC12A8	84561	broad.mit.edu	37	3	124802787	124802787	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:124802787G>A	uc003ehw.4	-	13	2249	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	SLC12A8_uc003ehv.4_Missense_Mutation_p.R698C|SLC12A8_uc003eht.4_Missense_Mutation_p.R499C|SLC12A8_uc010hry.3_3'UTR	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	698					potassium ion transport	integral to membrane	symporter activity	p.E727V(2)		endometrium(2)|kidney(2)|lung(12)	16						TGGTGGTAGCGATCCCGAGTG	0.577000														11			10		0	0	0.00185496	0	0
CDK4	1019	broad.mit.edu	37	12	58145431	58145431	+	Missense_Mutation	SNP	G	T	T	rs11547328		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:58145431G>T	uc001spv.3	-	1	362	c.70C>A	c.(70-72)Cgt>Agt	p.R24S	CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	24	Protein kinase.		R -> C (in CMM3; somatic and familial; generates a dominant oncogene resistant to inhibition by p16(INK4a); dbSNP:rs11547328).|R -> H (in CMM3).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R24L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TGGGGATCACGGGCCTTGTAC	0.557000			Mis			melanoma			Hereditary Melanoma					4			22		1.64293e-13	4.43053e-13	0.00332997	1	0
YLPM1	56252	broad.mit.edu	37	14	75266262	75266262	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:75266262C>T	uc001xqj.4	+	4	4386	c.4262C>T	c.(4261-4263)cCc>cTc	p.P1421L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACATATGCCCTCCTCACAT	0.498000														25			54		0	0	0.00361006	0	0
ABCB1	5243	broad.mit.edu	37	7	87160636	87160636	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87160636T>C	uc003uiz.2	-	21	3152	c.2659A>G	c.(2659-2661)Aag>Gag	p.K887E	ABCB1_uc011khc.2_Missense_Mutation_p.K823E	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	887	ABC transmembrane type-1 2.		K -> N (in a colorectal cancer sample; somatic mutation).		G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.K887N(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGTTCTTTCTTATCTTTCAGT	0.348000														103			20		0	0	0.00152264	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535048	124535048	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:124535048C>T	uc004bln.3	+	11	2226	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	DAB2IP_uc004blo.3_Silent_p.S623S|DAB2IP_uc004blp.3_Silent_p.S152S	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	747					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGAGCCTCTCCATGGTGGACC	0.687000														13			12		0	0	0.00244969	0	0
SCN7A	6332	broad.mit.edu	37	2	167313463	167313463	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:167313463T>C	uc002udu.2	-	9	1337	c.1207A>G	c.(1207-1209)Aga>Gga	p.R403G	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	403					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCACCAACTCTCTGCTTTTCT	0.333000														7			8		0	0	0.00307968	0	0
C1orf51	148523	broad.mit.edu	37	1	150259145	150259145	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:150259145C>T	uc001euj.3	+	4	1386	c.937C>T	c.(937-939)Cca>Tca	p.P313S	C1orf51_uc001euh.3_Missense_Mutation_p.P313S|C1orf51_uc001eui.3_Missense_Mutation_p.P225S	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	313										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCCCAGTCCCACCTACTAC	0.542000														61			15		0	0	0.000958276	0	0
ARSJ	79642	broad.mit.edu	37	4	114824378	114824378	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:114824378G>A	uc003ibq.1	-	1	1740	c.852C>T	c.(850-852)tcC>tcT	p.S284S	ARSJ_uc010imu.1_Silent_p.S284S|ARSJ_uc010imv.1_Silent_p.S112S	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN	Homo sapiens arylsulfatase family, member J (ARSJ), mRNA.	284						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGTTGATAATGGATCGGTAGT	0.408000														18			43		0	0	0.00285205	0	0
DMXL2	23312	broad.mit.edu	37	15	51763564	51763564	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:51763564G>A	uc010ufy.2	-	28	7473	c.7248C>T	c.(7246-7248)caC>caT	p.H2416H	DMXL2_uc002abd.3_Silent_p.H486H|DMXL2_uc002abf.3_Silent_p.H2415H|DMXL2_uc010bfa.3_Silent_p.H1779H	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2415						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATCTCCTACGGTGTTTATCTA	0.393000														44			51		0	0	0.00361006	0	0
TMEM82	388595	broad.mit.edu	37	1	16073477	16073477	+	Silent	SNP	C	T	T	rs138798462		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:16073477C>T	uc001axc.3	+	4	1011	c.873C>T	c.(871-873)atC>atT	p.I291I		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	291	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGGGCATCCTTGTCTCCC	0.672000														21			10		0	0	0.000673444	0	0
RP1	6101	broad.mit.edu	37	8	55540301	55540301	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:55540301G>T	uc003xsd.1	+	3	4007	c.3859G>T	c.(3859-3861)Ggt>Tgt	p.G1287C	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1287					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)			TGATGGTTATGGTGTGGATCA	0.408000														66			18		4.96729e-08	1.3222e-07	0.00121646	1	0
ATRX	546	broad.mit.edu	37	X	76938144	76938144	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:76938144C>T	uc004ecp.4	-	8	2836	c.2604G>A	c.(2602-2604)ttG>ttA	p.L868L	ATRX_uc004ecq.4_Silent_p.L830L|ATRX_uc004eco.4_Silent_p.L653L|ATRX_uc004ecr.2_Silent_p.L800L|ATRX_uc010nlx.1_Silent_p.L839L|ATRX_uc010nly.1_Silent_p.L813L	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	868					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTGAGGTCTTCAAATTTTTGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							116			47		0	0	0.00361006	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509440	71509440	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:71509440G>A	uc004agu.3	+	7	962	c.657G>A	c.(655-657)gaG>gaA	p.E219E	PIP5K1B_uc011lrq.2_Silent_p.E219E|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	219	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AAGAGAGAGAGAAATCCAACC	0.423000														40			25		0	0	0.00332997	0	0
ZBTB40	9923	broad.mit.edu	37	1	22839521	22839521	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:22839521C>T	uc001bft.2	+	12	3077	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	ZBTB40_uc001bfu.2_Missense_Mutation_p.R856C|ZBTB40_uc009vqi.1_Missense_Mutation_p.R744C	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	856					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAACCACCTTCGCCTTCACAC	0.562000														19			19		0	0	0.00074312	0	0
TAF1	6872	broad.mit.edu	37	X	70608165	70608165	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:70608165C>T	uc004dzu.4	+	15	2554	c.2503C>T	c.(2503-2505)Cct>Tct	p.P835S	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P856S|TAF1_uc004dzv.4_Missense_Mutation_p.P9S	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	835					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAAAGCCTTTCCTTCCCATTC	0.438000														20			16		0	0	0.00121646	0	0
ZNF407	55628	broad.mit.edu	37	18	72346955	72346955	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:72346955C>T	uc002llw.2	+	0	4033	c.3980C>T	c.(3979-3981)tCt>tTt	p.S1327F	ZNF407_uc010xfc.2_Missense_Mutation_p.S1327F|ZNF407_uc010dqu.2_Missense_Mutation_p.S1327F|ZNF407_uc002llu.2_Missense_Mutation_p.S1326F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCCCAGCTTCTGATAGCACA	0.393000														29			13		0	0	0.00185496	0	0
PAH	5053	broad.mit.edu	37	12	103288625	103288625	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:103288625G>A	uc001tjq.1	-	2	713	c.240C>T	c.(238-240)ttC>ttT	p.F80F	PAH_uc010swc.1_Silent_p.F80F	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	80	ACT.				L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCAAATGGGTGAAAAATTCAT	0.433000														21			20		0	0	0.00121646	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318669	79318669	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:79318669C>T	uc010mpk.3	-	8	7984	c.7860G>A	c.(7858-7860)acG>acA	p.T2620T	PRUNE2_uc004akj.4_Silent_p.T73T|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Silent_p.T73T|PRUNE2_uc022bih.1_Silent_p.T2442T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2620					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGATGATCTCGTATCGCTTT	0.483000														21			25		0	0	0.00332997	0	0
DNAH10	196385	broad.mit.edu	37	12	124352591	124352591	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:124352591G>A	uc001uft.4	+	41	7115	c.7090G>A	c.(7090-7092)Gaa>Aaa	p.E2364K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2364					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAATTTGACGAATATATCAA	0.507000														16			12		0	0	0.00136819	0	0
FBXL16	146330	broad.mit.edu	37	16	747153	747153	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:747153C>T	uc021taa.1	-	1	581	c.253G>A	c.(253-255)Gca>Aca	p.A85T	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	85	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TGCCCAGGTGCCAAGGCTGAG	0.701000														3			13		0	0	0.00244969	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74883552	74883552	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:74883552G>A	uc001owb.3	+	6	1305	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	SLCO2B1_uc010rrq.2_Missense_Mutation_p.E49K|SLCO2B1_uc010rrr.2_Missense_Mutation_p.E160K|SLCO2B1_uc010rrs.2_Missense_Mutation_p.E188K|SLCO2B1_uc001owc.3_Missense_Mutation_p.E77K|SLCO2B1_uc001owd.3_Missense_Mutation_p.E282K	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	304					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AATGCCCAAGGAAAAACGTGA	0.587000														29			36		0	0	0.00111076	0	0
FOLR1	2348	broad.mit.edu	37	11	71907092	71907092	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:71907092C>T	uc001orz.2	+	5	921	c.645C>T	c.(643-645)gaC>gaT	p.D215D	FOLR1_uc001osa.2_Silent_p.D215D|FOLR1_uc001osb.2_Silent_p.D215D|FOLR1_uc001osd.2_Silent_p.D215D	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	215					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						TGTGGTTCGACCCAGCCCAGG	0.607000														35			12		0	0	0.00136819	0	0
PCDH8	5100	broad.mit.edu	37	13	53422301	53422301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:53422301C>T	uc001vhi.3	-	0	475	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDH8_uc001vhj.3_Missense_Mutation_p.D91N	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	91	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGCTCGCGGTCCAGGCCGGCG	0.662000														6			26		0	0	0.00395357	0	0
MEF2C	4208	broad.mit.edu	37	5	88056893	88056893	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:88056893G>A	uc003kjl.3	-	5	797	c.368C>T	c.(367-369)tCc>tTc	p.S123F	MEF2C_uc021ybg.1_Intron|MEF2C_uc021ybh.1_Intron|MEF2C_uc003kji.2_Intron|MEF2C_uc003kjj.3_Intron|MEF2C_uc003kjk.3_Intron|MEF2C_uc003kjm.3_Missense_Mutation_p.S103F	NM_001193347	NP_001180276	Q06413	MEF2C_HUMAN	Homo sapiens myocyte enhancer factor 2C (MEF2C), transcript variant 3, mRNA.	105					B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGCATAAGAGGAGTCGGGATC	0.368000										HNSCC(66;0.2)				68			23		0	0	0.00278032	0	0
GSPT2	23708	broad.mit.edu	37	X	51486787	51486787	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:51486787C>T	uc004dpl.3	+	0	307	c.65C>T	c.(64-66)tCc>tTc	p.S22F		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	22					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.E21*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GACATGGAATCCCCGGGGTCG	0.672000														11			24		0	0	0.00395357	0	0
COL19A1	1310	broad.mit.edu	37	6	70647963	70647963	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:70647963C>T	uc003pfc.1	+	8	1024	c.907C>T	c.(907-909)Cct>Tct	p.P303S	COL19A1_uc010kam.2_Missense_Mutation_p.P199S	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	303	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P303P(1)		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						TCCGGGTTCACCTGGGCAGAA	0.393000														7			21		0	0	0.00395357	0	0
SESN2	83667	broad.mit.edu	37	1	28599183	28599183	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:28599183T>G	uc001bps.3	+	4	1025	c.629T>G	c.(628-630)tTc>tGc	p.F210C		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	210					cell cycle arrest	cytoplasm|nucleus		p.F210F(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTCCTCCTTCGTGTTTGGC	0.647000														29			26		0	0	0.00127121	0	0
TAF1L	138474	broad.mit.edu	37	9	32632950	32632950	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:32632950C>T	uc003zrg.1	-	0	2718	c.2628G>A	c.(2626-2628)atG>atA	p.M876I	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	876					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.G875G(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTTGAATCCATCCCTGTGC	0.453000														23			49		0	0	0.00361006	0	0
SFRP4	6424	broad.mit.edu	37	7	37953976	37953977	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:37953976_37953977GG>AA	uc003tfo.4	-	2	912	c.526_splice	c.e2+1	p.D176_splice		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	176					Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGAACTCACCGGGGCTTAGGCG	0.455000														56			36		0	0	6.4e-05	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459714	107459714	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:107459714C>T	uc002tdq.3	-	1	839	c.720G>A	c.(718-720)ggG>ggA	p.G240G	ST6GAL2_uc002tdr.3_Silent_p.G240G|ST6GAL2_uc002tds.3_Silent_p.G240G	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	240					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCTCCCGCTTCCCGCGGAAGC	0.677000														6			4		0	0	0.00024832	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215448	140215448	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140215448C>G	uc003lhq.2	+	0	1480	c.1480C>G	c.(1480-1482)Ctg>Gtg	p.L494V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.L494V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACTCGCTGGTGGAGCT	0.667000														25			37		0	0	0.00428921	0	0
PCDHB13	56123	broad.mit.edu	37	5	140596017	140596017	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:140596017C>T	uc003lja.1	+	0	2509	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCCCTCCCCAGT	0.478000														45			15		0	0	0.00316338	0	0
OR5L2	26338	broad.mit.edu	37	11	55595042	55595042	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:55595042C>T	uc001nhy.1	+	0	348	c.348C>T	c.(346-348)gcC>gcT	p.A116A		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L115M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTGCTGGCCGTGATGGCCT	0.507000										HNSCC(27;0.073)				73			36		0	0	0.00327116	0	0
RPAP2	79871	broad.mit.edu	37	1	92789402	92789402	+	Silent	SNP	T	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:92789402T>C	uc001dot.2	+	7	1034	c.925T>C	c.(925-927)Tta>Cta	p.L309L	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	309						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.L309L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GCCTGAAAGATTAAAAGCGTC	0.343000														33			35		0	0	0.000953801	0	0
NRXN2	9379	broad.mit.edu	37	11	64390348	64390348	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:64390348C>T	uc021qkw.1	-	20	4512	c.4050G>A	c.(4048-4050)gcG>gcA	p.A1350A	NRXN2_uc021qkx.1_Silent_p.A1280A|NRXN2_uc001oas.3_Silent_p.A1280A|NRXN2_uc001oao.3_5'UTR|NRXN2_uc001oap.3_Silent_p.A304A|NRXN2_uc001oaq.3_Silent_p.A1017A	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1350					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGTGGTCTCCGCACTGAGCA	0.701000														5			7		0	0	0.00198382	0	0
POU5F1B	5462	broad.mit.edu	37	8	128428576	128428576	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:128428576G>A	uc003ysf.3	+	0	720	c.465G>A	c.(463-465)caG>caA	p.Q155Q	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_Non-coding_Transcript	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	155	POU-specific.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						TCCTGAAGCAGAAGAGGATCA	0.522000														5			8		0	0	0.000274275	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776749	159776749	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:159776749G>A	uc003lyd.3	-	2	423	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	95	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTGCCCTTTGGTCCTGGCTT	0.672000														25			17		0	0	0.000566183	0	0
GPR39	2863	broad.mit.edu	37	2	133175434	133175434	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:133175434G>A	uc002ttl.3	+	0	1288	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	273						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGAGCGAAGAGAGCAGGACCG	0.622000														44			31		0	0	0.00375469	0	0
FAM135B	51059	broad.mit.edu	37	8	139190821	139190821	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:139190821G>A	uc003yuy.3	-	9	1157	c.986C>T	c.(985-987)tCc>tTc	p.S329F	FAM135B_uc003yux.3_Missense_Mutation_p.S230F|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	329								p.H328N(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTCACTTGGGAGTGCAGAGT	0.527000										HNSCC(54;0.14)				22			16		0	0	0.000566183	0	0
PGAM5	192111	broad.mit.edu	37	12	133294583	133294583	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:133294583A>G	uc009zyv.3	+	4	666	c.596A>G	c.(595-597)gAa>gGa	p.E199G	PGAM5_uc010tbr.2_Non-coding_Transcript|PGAM5_uc001uku.3_Missense_Mutation_p.E199G|PGAM5_uc021rgs.1_Missense_Mutation_p.E198G	NM_001170543	NP_001164014	Q96HS1	PGAM5_HUMAN	Homo sapiens phosphoglycerate mutase family member 5 (PGAM5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		CAGTATTACGAAGACGGAGCC	0.647000														25			10		0	0	0.000673444	0	0
GMEB1	10691	broad.mit.edu	37	1	29040901	29040901	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:29040901C>T	uc001bra.3	+	9	1480	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	GMEB1_uc001bqz.3_Silent_p.F436F|GMEB1_uc001brb.3_Silent_p.F436F	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAGCTCTTCCGCTATGCCA	0.577000														17			14		0	0	0.00316338	0	0
ZNF528	84436	broad.mit.edu	37	19	52919193	52919193	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:52919193C>T	uc002pzh.3	+	6	1514	c.1088C>T	c.(1087-1089)tCa>tTa	p.S363L	ZNF528_uc002pzi.3_Missense_Mutation_p.S130L	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAAGCATTTTCAGTGCGTTCC	0.423000														30			22		0	0	0.00278032	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:50936947C>T	uc002lfe.2	+	19	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_uc010xdr.1_Nonsense_Mutation_p.R849*|DCC_uc010dpf.2_Nonsense_Mutation_p.R656*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000														48			11		0	0	0.000978159	0	0
SYT9	143425	broad.mit.edu	37	11	7324557	7324557	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:7324557C>T	uc001mfe.3	+	1	670	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	145						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GACGGGGATCCAGGAGAACTG	0.602000														10			4		0	0	0.00116845	0	0
ALK	238	broad.mit.edu	37	2	29917782	29917782	+	Missense_Mutation	SNP	C	T	T	rs56077855		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:29917782C>T	uc002rmy.3	-	2	1838	c.886G>A	c.(886-888)Gag>Aag	p.E296K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	296	MAM 1.		E -> Q (in dbSNP:rs56077855).		protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GAGGCCTCCTCGGAGGGGATG	0.617000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					61			54		0	0	0.00361006	0	0
ECI2	10455	broad.mit.edu	37	6	4116158	4116158	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:4116158C>A	uc003mwf.3	-	9	1172	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Nonsense_Mutation_p.E349*|ECI2_uc003mwc.3_Nonsense_Mutation_p.E207*|ECI2_uc003mwd.3_Nonsense_Mutation_p.E349*|ECI2_uc003mwe.3_Nonsense_Mutation_p.E226*	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	379					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTTGTGCATTCATCTGATAGC	0.408000														74			18		0.000958276	0.00251013	0.000958276	1	0
POU5F1B	5462	broad.mit.edu	37	8	128429055	128429055	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:128429055C>T	uc003ysf.3	+	0	1199	c.944C>T	c.(943-945)cCa>cTa	p.P315L	LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank	NM_001159542	NP_001153014	Q06416	P5F1B_HUMAN	Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA.	315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|prostate(1)|urinary_tract(1)	3						CCTCCGGCCCCAGGGCCCCAT	0.587000														5			3		0	0	0.00024832	0	0
NDRG2	57447	broad.mit.edu	37	14	21486174	21486174	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:21486174G>A	uc001vyy.3	-	15	1071	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NDRG2_uc010tll.2_Silent_p.F303F|NDRG2_uc001vyt.3_Silent_p.F220F|NDRG2_uc001vyu.3_Silent_p.F264F|NDRG2_uc001vyv.3_Silent_p.F293F|NDRG2_uc001vyw.3_Silent_p.F293F|NDRG2_uc001vzb.3_Silent_p.F247F|NDRG2_uc001vyx.3_Silent_p.F307F|NDRG2_uc001vza.3_Silent_p.F293F|NDRG2_uc001vyz.3_Silent_p.F293F|NDRG2_uc001vzc.3_Silent_p.F277F|NDRG2_uc010aig.3_Silent_p.F296F|NDRG2_uc001vze.3_Silent_p.F307F|NDRG2_uc001vzd.3_Silent_p.F307F|NDRG2_uc001vzg.3_Silent_p.F293F|NDRG2_uc001vzf.3_Silent_p.F293F	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	307					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGAAGTACTTGAAGGCCTCGG	0.572000														31			75		0	0	0.00361006	0	0
C8A	731	broad.mit.edu	37	1	57349331	57349331	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:57349331G>A	uc001cyo.2	+	5	964	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	278	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATTCTTGAACGAATTAAACAA	0.403000														21			5		0	0	0.00116845	0	0
SAMD9	54809	broad.mit.edu	37	7	92731141	92731141	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:92731141G>T	uc003umf.3	-	2	4540	c.4270C>A	c.(4270-4272)Ctg>Atg	p.L1424M	SAMD9_uc003umg.3_Missense_Mutation_p.L1424M|SAMD9_uc022ahg.1_Missense_Mutation_p.L1424M	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1424						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGATAAGTCAGTCCTATTGGT	0.388000														97			10		5.50884e-06	1.45458e-05	0.00136819	1	0
TTN	7273	broad.mit.edu	37	2	179497688	179497688	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179497688G>A	uc021vsy.1	-	182	35691	c.35466C>T	c.(35464-35466)ttC>ttT	p.F11822F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5517F|TTN_uc021vta.1_Silent_p.F5450F|TTN_uc021vtb.1_Silent_p.F5325F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12749	Glu-rich.|Pro-rich.						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)			TAGCAGCCTGGAAGGAAACCT	0.438000														63			30		0	0	0.00178596	0	0
FAM48A	55578	broad.mit.edu	37	13	37619411	37619411	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:37619411G>A	uc001uwk.3	-	5	513	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	FAM48A_uc010abt.3_Silent_p.L90L|FAM48A_uc001uwg.3_Silent_p.L89L|FAM48A_uc001uwh.3_Silent_p.L90L|FAM48A_uc001uwi.3_Silent_p.L89L|FAM48A_uc001uwj.3_Silent_p.L90L|FAM48A_uc010tes.1_Silent_p.L77L|FAM48A_uc001uwl.1_Silent_p.L89L	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	89					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CTGAGCATCAGAGAATATCCC	0.398000														5			36		0	0	0.000953801	0	0
ZNF667	63934	broad.mit.edu	37	19	56952910	56952910	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56952910G>A	uc002qne.3	-	6	2245	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F	ZNF667_uc010etl.3_Missense_Mutation_p.S267F|ZNF667_uc002qnd.3_Missense_Mutation_p.S485F|ZNF667_uc010etm.3_Missense_Mutation_p.S428F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TCGTGTGAGAGATATTCGGTG	0.448000														35			18		0	0	0.000958276	0	0
DDR1	780	broad.mit.edu	37	6	30860240	30860240	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:30860240C>T	uc003nrv.3	+	6	1062	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	DDR1_uc010jse.3_Silent_p.G340G|DDR1_uc003nrq.3_Silent_p.G340G|DDR1_uc003nrr.3_Silent_p.G340G|DDR1_uc003nrs.3_Silent_p.G340G|DDR1_uc003nrt.3_Silent_p.G340G|DDR1_uc011dms.2_Silent_p.G358G|DDR1_uc003nru.3_Silent_p.G340G|DDR1_uc003nry.2_Silent_p.G340G|DDR1_uc003nrx.2_Silent_p.G340G|DDR1_uc003nrw.1_Silent_p.G139G	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	340					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCTTGGCGGCCGTGTGGCTC	0.657000														7			25		0	0	0.000878237	0	0
WBP2NL	164684	broad.mit.edu	37	22	42418336	42418337	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr22:42418336_42418337TG>GT	uc003bbt.3	+	4	584_585	c.490_491TG>GT	c.(490-492)tgc>GTc	p.C164V	WBP2NL_uc011apk.2_Missense_Mutation_p.C36V|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	164					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGGGAATATGTGCACTCCACAG	0.450000														17			29		0	0	6.4e-05	0	0
EFNA5	1946	broad.mit.edu	37	5	106763026	106763026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:106763026G>A	uc003kol.3	-	1	592	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	EFNA5_uc010jbr.1_Missense_Mutation_p.R104W	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	104					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		GAGTGAGGCCGGTTACATTCC	0.468000														63			21		0	0	0.00152264	0	0
TMEM18	129787	broad.mit.edu	37	2	677331	677331	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:677331G>A	uc002qwl.3	-	0	109	c.15C>T	c.(13-15)ttC>ttT	p.F5F	TMEM18_uc002qwk.3_5'Flank	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	5					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		AGCTGACAGAGAAGGCGGACG	0.652000														20			8		0	0	0.000274275	0	0
PRKX	5613	broad.mit.edu	37	X	3592739	3592740	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:3592739_3592740CC>AT	uc010nde.3	-	1	615_616	c.234_235GG>AT	c.(232-237)aaggtg>aaATtg	p.V79L		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	79	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATGCTCATCACCTTGAGGGCGA	0.540000														20			62		0	0	6.4e-05	0	0
MXRA5	25878	broad.mit.edu	37	X	3242384	3242384	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:3242384C>T	uc004crg.4	-	4	1499	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	448						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCTTCTTGGCCGTACTCTGA	0.493000														19			96		0	0	0.00361006	0	0
OR2D3	120775	broad.mit.edu	37	11	6943044	6943044	+	Missense_Mutation	SNP	G	A	A	rs146157596		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:6943044G>A	uc010rav.2	+	0	812	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001004684	NP_001004684	Q8NGH3	OR2D3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G271V(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGGGTCAGGAATATTCACC	0.443000														42			15		0	0	0.00316338	0	0
HEATR8	374977	broad.mit.edu	37	1	55172122	55172122	+	Silent	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:55172122A>G	uc010ooe.1	+	21	3903	c.3579A>G	c.(3577-3579)cgA>cgG	p.R1193R	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.R711R|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.R394R	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1193						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACACCCACCGAGACAGCGCCT	0.542000														81			7		0	0	0.000274275	0	0
ATP1B3	483	broad.mit.edu	37	3	141632563	141632563	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:141632563C>T	uc003eug.1	+	3	590	c.416C>T	c.(415-417)cCa>cTa	p.P139L	ATP1B3_uc011bne.1_Non-coding_Transcript	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 3 polypeptide (ATP1B3), mRNA.	139					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						CAGAAGGGTCCAGTTTATGTT	0.378000														25			61		0	0	0.00361006	0	0
VMO1	284013	broad.mit.edu	37	17	4689569	4689569	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:4689569C>T	uc002fyx.3	-	0	161	c.79G>A	c.(79-81)Gat>Aat	p.D27N	VMO1_uc010vsh.2_Missense_Mutation_p.D27N|VMO1_uc010vsi.2_Missense_Mutation_p.D27N|VMO1_uc002fyy.3_Missense_Mutation_p.D27N|GLTPD2_uc002fza.2_5'Flank	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.	27					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						TTCCGGCCATCTGTCTGTGCA	0.642000														7			3		0	0	6.4e-05	0	0
RIMS4	140730	broad.mit.edu	37	20	43385568	43385568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:43385568G>A	uc010ggu.3	-	4	632	c.565C>T	c.(565-567)Cct>Tct	p.P189S	RIMS4_uc002xms.3_Missense_Mutation_p.P188S	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	188	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GGACTCTCAGGAAACAGCAGC	0.552000														93			84		0	0	0.00361006	0	0
SRRM1	10250	broad.mit.edu	37	1	24998753	24998753	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:24998753G>A	uc001bjm.3	+	16	2915	c.2691G>A	c.(2689-2691)aaG>aaA	p.K897K	SRRM1_uc010oel.2_Silent_p.K909K	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	897					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAATGAGGAAGGCCCAAGTGT	0.373000														8			5		0	0	0.00116845	0	0
IL6ST	3572	broad.mit.edu	37	5	55256367	55256367	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:55256367G>A	uc003jqq.3	-	7	1149	c.836C>T	c.(835-837)tCc>tTc	p.S279F	IL6ST_uc003jqp.3_Missense_Mutation_p.S113F|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.S279F|IL6ST_uc010iwb.3_Missense_Mutation_p.S279F	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	279	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	p.S279C(4)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATCGGGTGGATGCTGTGTC	0.378000			O		hepatocellular ca									15			16		0	0	0.00316338	0	0
TTN	7273	broad.mit.edu	37	2	179476382	179476382	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:179476382G>T	uc021vsy.1	-	217	43095	c.42870C>A	c.(42868-42870)gaC>gaA	p.D14290E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D7985E|TTN_uc021vta.1_Missense_Mutation_p.D7918E|TTN_uc021vtb.1_Missense_Mutation_p.D7793E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15217	Fibronectin type-III 3.						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)			TCACATGTAGGTCAAGGGGTG	0.418000														75			15		0.000308642	0.000809754	0.00316338	1	0
SERPINB3	6317	broad.mit.edu	37	18	61328066	61328066	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr18:61328066C>T	uc002lji.3	-	2	334	c.190G>A	c.(190-192)Gag>Aag	p.E64K	SERPINB3_uc002ljg.3_Missense_Mutation_p.E64K|SERPINB3_uc010dqa.3_Missense_Mutation_p.E64K|SERPINB3_uc010dqb.3_Missense_Mutation_p.E64K|SERPINB3_uc010dqc.2_Missense_Mutation_p.E64K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	64					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTGGTGTTCTCTGTGACTTGA	0.438000														23			9		0	0	0.000442599	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506704	37506704	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:37506704C>T	uc021ppc.1	+	32	3096	c.2997C>T	c.(2995-2997)atC>atT	p.I999I	ANKRD30A_uc001iza.1_Silent_p.I999I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1055						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGAAGAATCGAAGAGCAGC	0.323000														9			22		0	0	0.00229938	0	0
RNF17	56163	broad.mit.edu	37	13	25435478	25435478	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr13:25435478G>C	uc001upr.3	+	26	3888	c.3847G>C	c.(3847-3849)Gat>Cat	p.D1283H	RNF17_uc010tdd.1_Missense_Mutation_p.D1142H|RNF17_uc010tde.2_Missense_Mutation_p.D1279H|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.D1222H|RNF17_uc010aac.3_Missense_Mutation_p.D481H|RNF17_uc010aad.3_Missense_Mutation_p.D335H	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1283	Tudor 3.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GCTGTATCCTGATATACCCCA	0.318000														256			8		0	0	0.000442599	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593969	173593969	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:173593969C>T	uc001gja.1	-	4	748	c.687G>A	c.(685-687)ctG>ctA	p.L229L		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	245										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						CAATATCTTCCAGTTGTTGTC	0.383000														14			29		0	0	0.00127121	0	0
ADAM22	53616	broad.mit.edu	37	7	87762205	87762205	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:87762205G>A	uc003ujn.3	+	11	1231	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ADAM22_uc003ujk.2_Missense_Mutation_p.R339Q|ADAM22_uc003ujl.2_Missense_Mutation_p.R339Q|ADAM22_uc003ujm.3_Missense_Mutation_p.R339Q|ADAM22_uc003ujo.3_Missense_Mutation_p.R339Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R391Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	339	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGTAGCCGGAGCGGGGCA	0.418000														73			20		0	0	0.00188189	0	0
FBF1	85302	broad.mit.edu	37	17	73914148	73914148	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73914148G>A	uc002jqc.3	-	20	2479	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.S726S|FBF1_uc002jqd.1_Silent_p.S736S|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.S46S	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	735								p.T734M(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGCTATTCAGGGACCTGGAAG	0.652000														33			10		0	0	0.000978159	0	0
DNAH9	1770	broad.mit.edu	37	17	11584057	11584057	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:11584057G>A	uc002gne.3	+	18	3662	c.3594G>A	c.(3592-3594)tgG>tgA	p.W1198*	DNAH9_uc010coo.3_Nonsense_Mutation_p.W492*	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1198	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGAAATGGAACAACATAA	0.537000														3			26		0	0	0.00106085	0	0
CDC27	996	broad.mit.edu	37	17	45234714	45234714	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:45234714G>T	uc002ile.4	-	5	639	c.512C>A	c.(511-513)aCa>aAa	p.T171K	CDC27_uc002ild.4_Missense_Mutation_p.T171K|CDC27_uc002ilf.4_Missense_Mutation_p.T171K|CDC27_uc010wkp.2_Missense_Mutation_p.T110K|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.T171T(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CTGTAAAGATGTGAATTTAAA	0.373000														19			3		2.56e-06	6.77042e-06	0.00024832	1	0
ITGA10	8515	broad.mit.edu	37	1	145533463	145533463	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:145533463C>T	uc001eoa.3	+	11	1422	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ITGA10_uc010oyv.2_Missense_Mutation_p.S318F|ITGA10_uc009wiw.3_Missense_Mutation_p.S306F|ITGA10_uc010oyw.2_Missense_Mutation_p.S394F	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	449					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGTTTCTCTCTGGGGCTCCT	0.527000														68			26		0	0	0.000720815	0	0
SRBD1	55133	broad.mit.edu	37	2	45801820	45801820	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:45801820A>G	uc002rus.3	-	7	1191	c.1115T>C	c.(1114-1116)aTt>aCt	p.I372T		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	372					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			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)			ATCTGCTAAAATATGCTGCAC	0.358000														85			11		0	0	0.000978159	0	0
KCNB1	3745	broad.mit.edu	37	20	47991004	47991005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:47991004_47991005GG>AA	uc002xur.1	-	1	1258_1259	c.1092_1093CC>TT	c.(1090-1095)atccca>atTTca	p.P365S	KCNB1_uc002xus.1_Missense_Mutation_p.P365S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	365					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAGAGGCTGGGATGCTTTTGA	0.515000														31			40		0	0	6.4e-05	0	0
SMPD3	55512	broad.mit.edu	37	16	68405050	68405050	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr16:68405050G>A	uc002ewa.3	-	2	1457	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SMPD3_uc010cfe.3_Silent_p.F345F|SMPD3_uc010vlh.2_Silent_p.F345F	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	345					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCTCATGGTCGAAGGCCTCGT	0.632000														25			23		0	0	0.00278032	0	0
CDH4	1002	broad.mit.edu	37	20	60318780	60318780	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr20:60318780G>A	uc002ybn.2	+	2	419	c.331G>A	c.(331-333)Gag>Aag	p.E111K	CDH4_uc002ybr.2_Missense_Mutation_p.E74K|CDH4_uc002ybo.1_Non-coding_Transcript|CDH4_uc002ybp.2_Missense_Mutation_p.E37K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	111					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAGACAGCAGAGAAATGGGA	0.642000														8			6		0	0	0.00307968	0	0
PPHLN1	51535	broad.mit.edu	37	12	42768707	42768707	+	Silent	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:42768707C>G	uc001rng.1	+	4	447	c.342C>G	c.(340-342)tcC>tcG	p.S114S	PPHLN1_uc001rna.3_Silent_p.S66S|PPHLN1_uc001rnb.3_Silent_p.S121S|PPHLN1_uc001rnc.3_Silent_p.S114S|PPHLN1_uc001rnd.3_Silent_p.S66S|PPHLN1_uc001rnf.3_Silent_p.S114S|PPHLN1_uc010skq.2_Silent_p.S59S|PPHLN1_uc010skr.1_Silent_p.S59S|PPHLN1_uc010sks.1_Silent_p.S59S|PPHLN1_uc010skt.1_Silent_p.S13S|PPHLN1_uc001rni.1_Silent_p.S59S|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Silent_p.S66S	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	114					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TCTACTCTTCCCATTATGCGA	0.363000														41			8		0	0	0.000673444	0	0
ZNF280D	54816	broad.mit.edu	37	15	56961140	56961140	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:56961140G>A	uc002adu.3	-	13	1643	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	ZNF280D_uc002adv.3_Missense_Mutation_p.R463C|ZNF280D_uc010bfq.3_Missense_Mutation_p.R476C|ZNF280D_uc002adw.1_Missense_Mutation_p.R504C|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTGTACAACGATGTATTCCT	0.328000														15			33		0	0	0.00283554	0	0
RYR1	6261	broad.mit.edu	37	19	38989876	38989876	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:38989876C>T	uc002oit.3	+	42	7150	c.7020C>T	c.(7018-7020)ttC>ttT	p.F2340F	RYR1_uc002oiu.3_Silent_p.F2340F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2340	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCTGTCTTCGTCAACGGTG	0.602000														36			13		0	0	0.00316338	0	0
GNAT1	2779	broad.mit.edu	37	3	50229240	50229240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:50229240C>T	uc003cym.2	+	0	198	c.82C>T	c.(82-84)Cga>Tga	p.R28*	GNAT1_uc003cyl.2_Nonsense_Mutation_p.R28*	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	28					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAAGGATGCTCGAACCGTGAA	0.622000														13			11		0	0	0.000673444	0	0
LILRP2	79166	broad.mit.edu	37	19	55222108	55222109	+	RNA	DNP	GG	AA	AA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:55222108_55222109GG>AA	uc002qgs.1	+	0		c.2508_2509GG>AA			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GCCCACGCGGGGACCTACAGGT	0.629000														27			24		0	0	6.4e-05	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077844	19077844	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:19077844G>A	uc001mph.3	-	1	194	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	MRGPRX2_uc021qer.1_Silent_p.L36L	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	36					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAAAGGATCAGGAAGACCGGG	0.562000														58			62		0	0	0.00361006	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:3387672C>T	uc001qlp.3	+	3	332	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_uc021qtd.1_Missense_Mutation_p.S50L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000														13			36		0	0	0.00111076	0	0
EML1	2009	broad.mit.edu	37	14	100374010	100374010	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr14:100374010C>T	uc001ygr.3	+	10	1170	c.1101C>T	c.(1099-1101)tcC>tcT	p.S367S	EML1_uc010avt.1_Silent_p.S335S|EML1_uc010tww.2_Silent_p.S336S|EML1_uc001ygq.3_Silent_p.S367S|EML1_uc001ygs.3_Silent_p.S348S	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	348						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGGATGACTCCAACGACCATG	0.408000														22			31		0	0	0.00327116	0	0
IL11RA	3590	broad.mit.edu	37	9	34660894	34660894	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:34660894G>A	uc003zvi.3	+	11	2569	c.1213G>A	c.(1213-1215)Ggg>Agg	p.G405R	IL11RA_uc011loq.2_Missense_Mutation_p.G405R|IL11RA_uc003zvk.3_Missense_Mutation_p.G405R|IL11RA_uc010mke.3_Missense_Mutation_p.G287R	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	405						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCCAAAGCCTGGGTTCTTGGC	0.547000														97			40		0	0	0.0025221	0	0
ANAPC5	51433	broad.mit.edu	37	12	121779840	121779840	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:121779840G>A	uc001uag.3	-	4	745	c.623C>T	c.(622-624)tCc>tTc	p.S208F	ANAPC5_uc001uah.3_Missense_Mutation_p.S109F	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	208					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGTTTTTGGGACAGAGGCCC	0.318000														113			101		0	0	0.00361006	0	0
GFM2	84340	broad.mit.edu	37	5	74034150	74034151	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr5:74034150_74034151AG>TA	uc010izj.1	-	14	1734_1735	c.1408_1409CT>TA	c.(1408-1410)ctt>TAt	p.L470Y	GFM2_uc003kdh.1_Missense_Mutation_p.L438Y|GFM2_uc003kdi.1_Missense_Mutation_p.L391Y|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.L438Y	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	438					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TACATGTTTAAGCCCAACAGTC	0.351000														43			31		0	0	6.4e-05	0	0
FAM183B	340286	broad.mit.edu	37	7	38725587	38725587	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:38725587C>T	uc011kbd.2	-	1	1006	c.710G>A	c.(709-711)aGa>aAa	p.R237K						Homo sapiens family with sequence similarity 183, member B (FAM183B), non-coding RNA.											endometrium(1)|lung(7)	8						ACCACCCTCTCTTTCGGGTGT	0.587000														29			36		0	0	0.00195071	0	0
BNC2	54796	broad.mit.edu	37	9	16437419	16437419	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:16437419A>C	uc003zml.3	-	5	913	c.773T>G	c.(772-774)gTg>gGg	p.V258G	BNC2_uc011lmw.2_Missense_Mutation_p.V163G|BNC2_uc003zmm.3_Missense_Mutation_p.V216G|BNC2_uc003zmq.1_Missense_Mutation_p.V272G|BNC2_uc003zmr.1_Missense_Mutation_p.V295G|BNC2_uc003zmp.1_Missense_Mutation_p.V286G|BNC2_uc010mij.1_Missense_Mutation_p.V180G|BNC2_uc011lmv.2_Missense_Mutation_p.V84G|BNC2_uc003zmo.1_Missense_Mutation_p.V180G|BNC2_uc003zmj.3_Missense_Mutation_p.V23G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.V23G|BNC2_uc003zmn.1_Missense_Mutation_p.V23G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CATCAGCTCCACAATGGATTT	0.498000														8			38		0	0	0.00428921	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733599	56733599	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:56733599C>G	uc002qmq.3	-	4	1002	c.836G>C	c.(835-837)aGa>aCa	p.R279T	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.R162T|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.R279T|ZSCAN5A_uc002qms.1_Missense_Mutation_p.R278T	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	279					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGAAGCTTCTCTCTCCACAAC	0.532000														59			47		0	0	0.00361006	0	0
CSMD3	114788	broad.mit.edu	37	8	113303816	113303816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr8:113303816C>T	uc003ynu.3	-	55	9056	c.8897G>A	c.(8896-8898)gGa>gAa	p.G2966E	CSMD3_uc003yns.3_Missense_Mutation_p.G2168E|CSMD3_uc003ynt.3_Missense_Mutation_p.G2926E|CSMD3_uc011lhx.2_Missense_Mutation_p.G2797E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2966	Sushi 20.					integral to membrane|plasma membrane		p.P2965S(1)|p.P2965T(1)		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						TAAAAAATATCCAGGATTGCA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				28			13		0	0	0.00185496	0	0
CLCA3P	9629	broad.mit.edu	37	1	87102500	87102500	+	RNA	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:87102500G>A	uc010osh.2	+	3		c.484G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						ATTTGTCCATGAGTGGGCCCA	0.383000														43			44		0	0	0.00321405	0	0
MUC16	94025	broad.mit.edu	37	19	9064399	9064399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:9064399C>T	uc002mkp.3	-	2	23251	c.23047G>A	c.(23047-23049)Gaa>Aaa	p.E7683K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7685	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						GGGCTGGTTTCTTTCACAAAG	0.552000														15			19		0	0	0.00152264	0	0
DNAH8	1769	broad.mit.edu	37	6	38854603	38854603	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:38854603G>T	uc021yzh.1	+	56	8405	c.8296G>T	c.(8296-8298)Gaa>Taa	p.E2766*	DNAH8_uc003ooe.2_Nonsense_Mutation_p.E2549*	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATGGAAATGGAAGGAATGTA	0.388000														67			19		3.62473e-10	9.71121e-10	0.00188189	1	0
TPST1	8460	broad.mit.edu	37	7	65706180	65706180	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:65706180C>T	uc003tuw.3	+	1	1120	c.768C>T	c.(766-768)ttC>ttT	p.F256F	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	256					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTAAAGTTCCTCCAGATTC	0.413000														23			34		0	0	0.00283554	0	0
TNFRSF8	943	broad.mit.edu	37	1	12164568	12164568	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:12164568G>A	uc001atq.3	+	3	623	c.401G>A	c.(400-402)gGg>gAg	p.G134E	TNFRSF8_uc010obc.2_Missense_Mutation_p.G23E	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	134					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCGGCAGGGATGATTGTC	0.572000														5			14		0	0	0.00400662	0	0
CD163L1	283316	broad.mit.edu	37	12	7526034	7526034	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:7526034G>A	uc010sge.2	-	13	3668	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	CD163L1_uc001qsy.3_Silent_p.F1204F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1204	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCCACATGAAACCAGAGC	0.537000														15			40		0	0	0.00170553	0	0
PDLIM1	9124	broad.mit.edu	37	10	97028582	97028582	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr10:97028582C>T	uc001kkh.3	-	2	395	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	96					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CGCTTCCCTTCCTCCGTCACC	0.443000														8			35		0	0	0.00128727	0	0
MED13	9969	broad.mit.edu	37	17	60032752	60032752	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:60032752G>A	uc002izo.3	-	25	6036	c.5959C>T	c.(5959-5961)Ccc>Tcc	p.P1987S		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1987					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCATTGTTGGGATTGAAAGCT	0.368000														21			9		0	0	0.000274275	0	0
TRANK1	9881	broad.mit.edu	37	3	36899020	36899020	+	Silent	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr3:36899020G>A	uc003cgj.3	-	11	2309	c.2061C>T	c.(2059-2061)tgC>tgT	p.C687C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	687					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGCATAAGGCAGTCTCTCA	0.572000														9			7		0	0	0.00198382	0	0
PAK1	5058	broad.mit.edu	37	11	77090974	77090974	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:77090974G>A	uc001oyh.4	-	2	789	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	PAK1_uc010rso.2_5'UTR|PAK1_uc001oyg.4_Missense_Mutation_p.H86Y|PAK1_uc001oyi.1_Missense_Mutation_p.H86Y	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	86	Autoregulatory region.|CRIB.|GTPase-binding (By similarity).				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					AAACCGACATGAATTGTGTGT	0.408000														32			18		0	0	0.00121646	0	0
CAP1	10487	broad.mit.edu	37	1	40529910	40529910	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:40529910C>T	uc009vvz.3	+	4	520	c.306C>T	c.(304-306)tcC>tcT	p.S102S	CAP1_uc010oje.2_Intron|CAP1_uc001cfa.4_Silent_p.S102S|CAP1_uc001cey.4_Silent_p.S102S|CAP1_uc001cez.4_Silent_p.S102S	NM_006367	NP_006358	Q01518	CAP1_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein 1 (yeast) (CAP1), transcript variant 1, mRNA.	102					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAAGCTTTCCGATTTGTTGG	0.428000														20			24		0	0	0.00395357	0	0
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr15:33962623T>G	uc001zhi.3	+	37	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_uc010bar.3_Missense_Mutation_p.V1909G	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1909	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.V1909G(2)		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)		TTGCTAGGGGTTCCTTTggaa	0.473000														11			7		0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181767712	181767712	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:181767712C>T	uc009wxt.3	+	47	6879	c.6684C>T	c.(6682-6684)atC>atT	p.I2228I	CACNA1E_uc001gow.3_Silent_p.I2185I|CACNA1E_uc009wxs.3_Silent_p.I2166I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2228					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCGCTACATCTCCGAGCCCT	0.612000														7			17		0	0	0.000566183	0	0
ITGB4	3691	broad.mit.edu	37	17	73725384	73725384	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73725384C>T	uc002jpg.3	+	6	792	c.605C>T	c.(604-606)tCc>tTc	p.S202F	ITGB4_uc002jph.3_Missense_Mutation_p.S202F|ITGB4_uc010dgo.3_Missense_Mutation_p.S202F|ITGB4_uc002jpi.4_Missense_Mutation_p.S202F|ITGB4_uc010dgp.1_Missense_Mutation_p.S202F|ITGB4_uc002jpj.3_Missense_Mutation_p.S202F|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	202	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCCCTTCTCCTTCAAGAAC	0.612000														27			16		0	0	0.00074312	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028308	170028308	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr4:170028308G>A	uc003isa.1	-	10	2523	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	730						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CGGGGCTTCCGTTTAGTGGAG	0.527000														10			18		0	0	0.00121646	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														80			14		0	0	0.000958276	0	0
FBF1	85302	broad.mit.edu	37	17	73917558	73917558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:73917558G>A	uc002jqc.3	-	14	1839	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.A513V|FBF1_uc002jqd.1_Missense_Mutation_p.A523V|FBF1_uc002jqb.3_5'Flank|FBF1_uc010dgr.2_5'UTR	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	522										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CAAACCAGTGGCTGAGAGGTC	0.547000														19			6		0	0	0.00116845	0	0
CNIH2	254263	broad.mit.edu	37	11	66050610	66050610	+	Silent	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr11:66050610C>T	uc001ohi.1	+	3	535	c.303C>T	c.(301-303)caC>caT	p.H101H	CNIH2_uc009yrb.1_Non-coding_Transcript	NM_182553	NP_872359	Q6PI25	CNIH2_HUMAN	Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.	101					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	p.Y100H(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						TCTTCTACCACCTCTGGAGGT	0.607000											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			26		0	0	0.000878237	0	0
DPRX	503834	broad.mit.edu	37	19	54135376	54135376	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:54135376G>A	uc002qcf.1	+	0	67	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGGCTCAGAGGATCTTCGTAA	0.507000														62			35		0	0	0.00148497	0	0
FAM5B	57795	broad.mit.edu	37	1	177250268	177250268	+	Silent	SNP	C	T	T	rs143029054	byFrequency	TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr1:177250268C>T	uc001glf.3	+	7	2268	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	FAM5B_uc001glg.3_Silent_p.S547S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	652						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GAATCAAGTCCCTGGATGACA	0.463000														20			37		0	0	0.000953801	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490296	150490296	+	Silent	SNP	G	A	A	rs148000953		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:150490296G>A	uc022apx.1	-	3	606	c.480C>T	c.(478-480)atC>atT	p.I160I	TMEM176B_uc003whu.4_Silent_p.I160I|TMEM176B_uc003whv.4_Silent_p.I123I|TMEM176B_uc003whw.4_Silent_p.I160I	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	160					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACAGTGTCGATGTATAAAA	0.517000														30			86		0	0	0.00361006	0	0
MYO1C	4641	broad.mit.edu	37	17	1386285	1386285	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:1386285G>T	uc002fsp.3	-	3	636	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	MYO1C_uc002fsn.3_Missense_Mutation_p.S120Y|MYO1C_uc002fso.3_Missense_Mutation_p.S104Y|MYO1C_uc010vqj.1_Missense_Mutation_p.S104Y|MYO1C_uc010vqk.1_Missense_Mutation_p.S115Y	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	139	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCTCCCCAGAGATCATCAC	0.677000														2			14		1.5842e-08	4.23053e-08	0.00185496	1	0
HFE	3077	broad.mit.edu	37	6	26091219	26091219	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:26091219C>T	uc003nfx.1	+	1	387	c.227C>T	c.(226-228)tCc>tTc	p.S76F	HFE_uc003nfy.1_Missense_Mutation_p.S53F|HFE_uc010jqe.1_Missense_Mutation_p.S76F|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.S76F|HFE_uc003ngb.1_Missense_Mutation_p.S76F|HFE_uc003ngc.1_Missense_Mutation_p.S76F|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	76	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	MHC class I protein complex|apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCATGGGTTTCCAGTAGAATT	0.488000									Hemochromatosis					30			6		0	0	0.00116845	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169721405	169721406	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr2:169721405_169721406insA	uc002ueg.3	+	15	1712_1713	c.1446_1447insA	c.(1444-1449)gggaaafs	p.G482fs	NOSTRIN_uc002uef.3_Frame_Shift_Ins_p.G539fs|NOSTRIN_uc002ueh.3_Frame_Shift_Ins_p.G404fs|NOSTRIN_uc010fpu.3_Frame_Shift_Ins_p.G454fs|NOSTRIN_uc002uek.3_Frame_Shift_Ins_p.G166fs	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	482	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTGAATGGGAAAAAAGGCCA	0.411													---	37	---	---	28	---					
EXOC2	55770	broad.mit.edu	37	6	549183	549183	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr6:549183delT	uc003mtd.3	-	21	2364	c.2230delA	c.(2230-2232)atcfs	p.I744fs	EXOC2_uc003mte.3_Frame_Shift_Del_p.I744fs|EXOC2_uc011dho.2_Frame_Shift_Del_p.I339fs	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	744					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACCTGTGTGATTTTTTCTATT	0.423													---	221	---	---	9	---					
TAS2R4	50832	broad.mit.edu	37	7	141478512	141478512	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr7:141478512delA	uc003vwq.1	+	0	224	c.224delA	c.(223-225)gaafs	p.E75fs		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	75					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCAAATACGGAAAGGTCAGTC	0.438													---	249	---	---	57	---					
JAK2	3717	broad.mit.edu	37	9	5072578	5072579	+	Frame_Shift_Del	DEL	AG	-	-	rs10974946		TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr9:5072578_5072579delAG	uc010mhm.3	+	11	1841_1842	c.1728_1729delAG	c.(1726-1731)acagaafs	p.T576fs	JAK2_uc003ziw.3_Frame_Shift_Del_p.T576fs	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	576	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGCATGAAACAGAAGTTCTTTT	0.356		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				---	6	---	---	12	---					
NEK8	284086	broad.mit.edu	37	17	27067605	27067605	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr17:27067605delC	uc002hcp.3	+	10	1542	c.1542delC	c.(1540-1542)ggcfs	p.G514fs		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	514						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGTGCCTGGCCAAGCCCTAG	0.577													---	50	---	---	8	---					
ZNF490	57474	broad.mit.edu	37	19	12692038	12692038	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chr19:12692038delC	uc002mtz.2	-	4	980	c.851delG	c.(850-852)ggafs	p.G284fs		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AAAGGCTTTTCCACACTGTTT	0.418													---	41	---	---	20	---					
ATP2B3	492	broad.mit.edu	37	X	152830534	152830534	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A19E-06A-11D-A197-08	TCGA-ER-A19E-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a77010-2f16-4da9-8ca0-746a51801a00	1a1a5e25-4a1b-4573-8d3e-25869f434568	g.chrX:152830534delC	uc004fht.1	+	18	3441	c.3315delC	c.(3313-3315)ttcfs	p.F1105fs	ATP2B3_uc004fhs.1_Frame_Shift_Del_p.F1105fs|ATP2B3_uc010nuf.1_Frame_Shift_Del_p.F128fs|ATP2B3_uc004fhu.1_Frame_Shift_Del_p.F28fs	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1105	Calmodulin-binding subdomain A (By similarity).				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGGTTCCGGGGCCTGA	0.672													---	4	---	---	2	---