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
EGFR	1956	broad.mit.edu	37	7	55220311	55220311	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:55220311A>G	uc003tqk.3	+	5	947	c.701A>G	c.(700-702)aAc>aGc	p.N234S	EGFR_uc003tqh.3_Missense_Mutation_p.N234S|EGFR_uc003tqi.3_Missense_Mutation_p.N234S|EGFR_uc003tqj.3_Missense_Mutation_p.N234S|EGFR_uc022adm.1_Missense_Mutation_p.N234S|EGFR_uc010kzg.2_Missense_Mutation_p.N189S|EGFR_uc022adn.1_Missense_Mutation_p.N189S|EGFR_uc011kco.2_Missense_Mutation_p.N181S|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	234					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	p.V30_R297>G(5)		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)	TGCTGCCACAACCAGTGTGCT	0.647000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				124			20		0	0	0.007413	0	0
CHGA	1113	broad.mit.edu	37	14	93398956	93398956	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:93398956G>T	uc001ybc.4	+	6	1310	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	CHGA_uc001ybd.4_Missense_Mutation_p.K199N	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	350					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGCTGGCCAAGGAGCTGACGG	0.652000														10			3		1.23904e-05	1.26608e-05	0.014758	1	0
NR6A1	2649	broad.mit.edu	37	9	127289093	127289093	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:127289093T>C	uc004bor.1	-	7	1344	c.1166A>G	c.(1165-1167)tAt>tGt	p.Y389C	NR6A1_uc004boq.1_Missense_Mutation_p.Y384C|NR6A1_uc010mwq.1_Missense_Mutation_p.Y385C	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	389					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Y389C(2)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CATGCAAGCATACTCCTCGTT	0.498000														92			26		0	0	0.004656	0	0
OBSCN	84033	broad.mit.edu	37	1	228560760	228560760	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:228560760G>A	uc009xez.1	+	93	22325	c.22281G>A	c.(22279-22281)cgG>cgA	p.R7427R	OBSCN_uc001hsr.1_Silent_p.R2056R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7427					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)				ACATCTCCCGGATCCTGAAGG	0.637000														29			9		0	0	0.006214	0	0
C9orf3	84909	broad.mit.edu	37	9	97718274	97718274	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:97718274C>T	uc004ava.3	+	7	1984	c.1849C>T	c.(1849-1851)Cat>Tat	p.H617Y	C9orf3_uc004auy.3_Missense_Mutation_p.H518Y|C9orf3_uc004auz.1_Missense_Mutation_p.H518Y	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	617					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCACACATTTCATGGACAGCT	0.393000														86			13		0	0	0.003163	0	0
KRT6B	3854	broad.mit.edu	37	12	52845481	52845481	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:52845481G>A	uc001sak.3	-	0	430	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	128	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGCACACAGGGAAGCCAGGG	0.647000														110			6		0	0	0.001168	0	0
CACNA1B	774	broad.mit.edu	37	9	140990947	140990947	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:140990947C>T	uc004cog.3	+	35	5245	c.5100C>T	c.(5098-5100)ctC>ctT	p.L1700L	CACNA1B_uc022bqn.1_Silent_p.L1700L|CACNA1B_uc004coi.3_Silent_p.L914L|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1702					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTGAACCTCTTTGTGGCTG	0.567000														80			17		0	0	0.007413	0	0
OC90	729330	broad.mit.edu	37	8	133044155	133044155	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:133044155C>T	uc003ytg.2	-	10	1004	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	OC90_uc011lix.1_Missense_Mutation_p.R335K	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	351	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.G334S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TGGCTCGCCTCTTCCTTCTTG	0.547000														40			5		0	0	0.014758	0	0
WDR60	55112	broad.mit.edu	37	7	158663875	158663875	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:158663875G>A	uc003woe.4	+	2	270	c.112G>A	c.(112-114)Gag>Aag	p.E38K		NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	38										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)		AAAGCACAGAGAGAAGAAGCT	0.527000														45			22		0	0	0.014323	0	0
KLHL4	56062	broad.mit.edu	37	X	86869550	86869550	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:86869550C>T	uc004efa.2	+	2	886	c.704C>T	c.(703-705)tCc>tTc	p.S235F	KLHL4_uc004efb.2_Missense_Mutation_p.S235F	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	235	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCACTAAATTCCTTGGTGCAG	0.363000														9			6		0	0	0.001984	0	0
CEP76	79959	broad.mit.edu	37	18	12674678	12674678	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:12674678A>C	uc002kri.3	-	10	1854	c.1698T>G	c.(1696-1698)ttT>ttG	p.F566L	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Missense_Mutation_p.F388L|CEP76_uc010wzz.2_Missense_Mutation_p.F491L	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	566					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTACGCTCAAATTCATAAG	0.408000														39			14		0	0	0.001855	0	0
COL4A1	1282	broad.mit.edu	37	13	110825088	110825088	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:110825088G>A	uc001vqw.4	-	40	3657	c.3535C>T	c.(3535-3537)Cca>Tca	p.P1179S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1179	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TTGGCCCCTGGAAACCCTGGG	0.468000														104			33		0	0	0.006230	0	0
GRWD1	83743	broad.mit.edu	37	19	48954323	48954323	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:48954323C>T	uc002pjd.2	+	5	1091	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	286						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGCCTCCATCCGCATCTGGG	0.672000														61			15		0	0	0.006122	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	A	A	rs28931589		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:41266104G>A	uc010hia.1	+	3	257	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTNNB1_uc003ckq.2_Missense_Mutation_p.G34E|CTNNB1_uc003ckp.2_Missense_Mutation_p.G34E|CTNNB1_uc003ckr.2_Missense_Mutation_p.G34E|CTNNB1_uc011azf.1_Missense_Mutation_p.G27E|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	34			G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(176)|p.G34E(155)|p.G34V(152)|p.A5_A80del(119)|p.S33F(103)|p.G34R(98)|p.S33Y(62)|p.S33P(49)|p.S33A(16)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.T3_A126del(4)|p.S33L(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S33N(3)|p.S23_S33del(3)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.H24_G38del(2)|p.S29_H36del(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.W25_I35del(2)|p.GIHS34?(2)|p.A5_I35del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.W25_H36del(2)|p.V22_T102del(2)|p.S23_A39del(2)|p.A21_A80del(2)|p.Y30_S33del(2)|p.M14_S45del(2)|p.V22_S33del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.D32_H36>D(2)|p.P16_K133del(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.S33_S37del(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S23_I35del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D32_H36del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.S33T(1)|p.S33S(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.M8_L132del(1)|p.D6_K133del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.W25_S33del(1)|p.Q4_D144del(1)|p.S33_G34del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.G34_S37del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.S33_G34insGTS(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.E9_I140del(1)|p.D32_S33insS(1)|p.S33_G34insS(1)|p.S33_G34insGI(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D32fs*9(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGGACTCTGGAATCCATTCT	0.488000	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					32			7		0	0	0.003080	0	0
F5	2153	broad.mit.edu	37	1	169509710	169509710	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:169509710C>T	uc001ggg.1	-	12	4763	c.4618G>A	c.(4618-4620)Gaa>Aaa	p.E1540K		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1540	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)	TAATCAATTTCAGCATAGTCA	0.428000														32			9		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9073747	9073747	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9073747G>A	uc002mkp.3	-	2	13903	c.13699C>T	c.(13699-13701)Cca>Tca	p.P4567S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4569	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						GGAACCATTGGAGATGTGGCT	0.507000														52			9		0	0	0.006214	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408105	105408105	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:105408105G>A	uc010axc.1	-	6	13803	c.13683C>T	c.(13681-13683)ctC>ctT	p.L4561L	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.L4461L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4561						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGGGCCCTTGAGGTCCACTT	0.617000														215			44		0	0	0.014410	0	0
TAAR6	319100	broad.mit.edu	37	6	132892276	132892276	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:132892276A>G	uc011eck.2	+	0	816	c.816A>G	c.(814-816)ttA>ttG	p.L272L		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	272						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTTCATGGTTACCATATAGCA	0.413000														57			17		0	0	0.004007	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666947	150666947	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:150666947G>A	uc003ltx.2	-	6	1110	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	SLC36A3_uc003ltv.2_Missense_Mutation_p.R175C|SLC36A3_uc003ltw.2_Missense_Mutation_p.R190C	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	190						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTAGAAACGAATGTCCAGG	0.512000														61			13		0	0	0.013537	0	0
SLX4	84464	broad.mit.edu	37	16	3639602	3639602	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:3639602G>A	uc002cvp.2	-	11	4664	c.4037C>T	c.(4036-4038)cCc>cTc	p.P1346L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1346	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCCGGGGTGGGGACGGGAAGG	0.672000								Direct reversal of damage						131			23		0	0	0.003330	0	0
MYH2	4620	broad.mit.edu	37	17	10447086	10447086	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:10447086G>A	uc010coi.3	-	7	811	c.683C>T	c.(682-684)cCc>cTc	p.P228L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.P228L|MYH2_uc010coj.3_Missense_Mutation_p.P228L	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	228	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCAGTAGGGGGTTGGCACT	0.522000														47			9		0	0	0.008291	0	0
FOXRED2	80020	broad.mit.edu	37	22	36892167	36892167	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:36892167C>T	uc003apn.4	-	5	1579	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	FOXRED2_uc003apm.4_Missense_Mutation_p.G43R|FOXRED2_uc003apo.4_Missense_Mutation_p.G491R|FOXRED2_uc003app.4_Missense_Mutation_p.G491R	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	491					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGAAGAGCCCGTGCTTTGCC	0.547000														109			13		0	0	0.002450	0	0
HNF4G	3174	broad.mit.edu	37	8	76456189	76456189	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:76456189C>T	uc003yaq.3	+	2	391	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	HNF4G_uc003yap.1_Missense_Mutation_p.R41C|HNF4G_uc003yar.3_Missense_Mutation_p.R78C	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	41					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACGCAGCATTCGTAAGAGTCA	0.438000														53			7		0	0	0.003080	0	0
NLRP8	126205	broad.mit.edu	37	19	56466752	56466752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:56466752C>T	uc002qmh.3	+	2	1399	c.1328C>T	c.(1327-1329)tCc>tTc	p.S443F	NLRP8_uc010etg.3_Missense_Mutation_p.S443F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	443	NACHT.					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)		GAGAACTTTTCCAGAAAGATC	0.473000														83			19		0	0	0.012319	0	0
LAMA3	3909	broad.mit.edu	37	18	21487612	21487612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:21487612C>T	uc002kuq.3	+	52	6903	c.6817C>T	c.(6817-6819)Ctt>Ttt	p.L2273F	LAMA3_uc002kur.3_Missense_Mutation_p.L2217F|LAMA3_uc002kus.4_Missense_Mutation_p.L664F|LAMA3_uc002kut.4_Missense_Mutation_p.L608F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2273	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGAGATGGTCTTCATGGGAT	0.428000														102			20		0	0	0.008871	0	0
RBP3	5949	broad.mit.edu	37	10	48388012	48388012	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:48388012C>T	uc001jez.3	-	0	2980	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	956	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E956K(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCCCCAGCTCGGCAGAGGCA	0.632000														65			20		0	0	0.008871	0	0
OR2A12	346525	broad.mit.edu	37	7	143792319	143792319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:143792319G>A	uc011kty.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACCCTGATGGGAAATGGGATT	0.493000														73			14		0	0	0.004007	0	0
CLGN	1047	broad.mit.edu	37	4	141317270	141317270	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:141317270G>A	uc011chi.2	-	9	1192	c.974C>T	c.(973-975)cCt>cTt	p.P325L	CLGN_uc003iii.3_Missense_Mutation_p.P325L	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	325					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTCAGCATTAGGATCAGGGAT	0.363000														113			15		0	0	0.003163	0	0
SCN9A	6335	broad.mit.edu	37	2	167060535	167060535	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:167060535G>A	uc010fpl.3	-	25	5012	c.4671C>T	c.(4669-4671)tcC>tcT	p.S1557S	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1568						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)	AGTGTCTGAGGGAGATCAGTT	0.313000														18			10		0	0	0.008291	0	0
TBXAS1	6916	broad.mit.edu	37	7	139657436	139657436	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:139657436C>T	uc011kqv.2	+	8	1068	c.833C>T	c.(832-834)tCa>tTa	p.S278L	TBXAS1_uc003vvh.3_Missense_Mutation_p.S232L|TBXAS1_uc010lne.3_Missense_Mutation_p.S164L|TBXAS1_uc011kqu.2_Missense_Mutation_p.S183L|TBXAS1_uc003vvi.3_Missense_Mutation_p.S232L|TBXAS1_uc011kqw.2_Missense_Mutation_p.S212L|TBXAS1_uc003vvj.3_Missense_Mutation_p.S232L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	231					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TTTCAAGTATCATTTCCATCC	0.453000														49			34		0	0	0.004289	0	0
CNOT4	4850	broad.mit.edu	37	7	135106988	135106988	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:135106988G>A	uc003vsv.2	-	2	620	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	CNOT4_uc011kpy.2_Missense_Mutation_p.R97C|CNOT4_uc011kpz.2_Missense_Mutation_p.R97C|CNOT4_uc003vst.3_Missense_Mutation_p.R97C|CNOT4_uc003vss.3_Missense_Mutation_p.R97C|CNOT4_uc003vsu.2_Missense_Mutation_p.R97C	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	97					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATGTTTGCGATTTTCTGAT	0.398000														57			14		0	0	0.004990	0	0
ICK	22858	broad.mit.edu	37	6	52878638	52878638	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:52878638G>A	uc003pbh.2	-	9	1464	c.974C>T	c.(973-975)cCa>cTa	p.P325L	ICK_uc003pbi.2_Missense_Mutation_p.P325L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	325					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.P325P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CTTGGCTGGTGGCTGGGCAGG	0.537000														59			11		0	0	0.013537	0	0
PPFIA1	8500	broad.mit.edu	37	11	70228206	70228206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:70228206G>A	uc001opo.3	+	26	3778	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_Missense_Mutation_p.G327E|PPFIA1_uc001ops.3_Missense_Mutation_p.G227E|AK125463_uc001opt.1_Intron	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	1188					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AATGTATCAGGAACACAGAGG	0.498000											OREG0021174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			3		0	0	0.009096	0	0
CD163L1	283316	broad.mit.edu	37	12	7526091	7526091	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:7526091G>A	uc010sge.2	-	13	3611	c.3585C>T	c.(3583-3585)ggC>ggT	p.G1195G	CD163L1_uc001qsy.3_Silent_p.G1185G	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1185	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						TCTCCCCACAGCCCAGCTGCC	0.542000														122			40		0	0	0.006999	0	0
OR51F1	256892	broad.mit.edu	37	11	4790947	4790947	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:4790947C>T	uc010qyl.2	-	0	201	c.201G>A	c.(199-201)agG>agA	p.R67R		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	67						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443000														27			13		0	0	0.001855	0	0
ODZ3	55714	broad.mit.edu	37	4	183675993	183675993	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:183675993G>A	uc003ivd.1	+	20	4548	c.4473G>A	c.(4471-4473)ggG>ggA	p.G1491G	ODZ3_uc003ive.1_Silent_p.G904G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1491					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGATCTAGGGAATATCCGGA	0.468000														62			13		0	0	0.004007	0	0
VN1R5	317705	broad.mit.edu	37	1	247419777	247419777	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:247419777C>T	uc010pyu.2	+	1	401	c.401C>T	c.(400-402)aCc>aTc	p.T134I		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	135					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TCCATCTGCACCCCCTGCCTC	0.478000														70			9		0	0	0.004482	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462796	21462796	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:21462796G>A	uc003cce.3	-	7	1506	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	366						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGGAAGTCTGGAACAGTGTTG	0.567000														14			6		0	0	0.001984	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133285	91133285	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:91133285T>C	uc004efk.2	+	1	2891	c.2046T>C	c.(2044-2046)taT>taC	p.Y682Y	PCDH11X_uc004efl.2_Silent_p.Y682Y|PCDH11X_uc010nmv.2_Silent_p.Y682Y|PCDH11X_uc004efm.2_Silent_p.Y682Y|PCDH11X_uc004efn.2_Silent_p.Y682Y|PCDH11X_uc004efo.2_Silent_p.Y682Y|PCDH11X_uc004efh.2_Silent_p.Y682Y|PCDH11X_uc004efj.1_Silent_p.Y682Y	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	682	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTGTTCTTATGAATTGGTTC	0.423000														37			24		0	0	0.016522	0	0
FGD2	221472	broad.mit.edu	37	6	36976721	36976721	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:36976721C>T	uc010jwp.1	+	1	351	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FGD2_uc003onf.3_Silent_p.A60A|FGD2_uc011dtu.1_Silent_p.A60A|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_5'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	60					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCGGGGAGGCCGTGGGGTCTG	0.632000														86			9		0	0	0.004482	0	0
ODZ3	55714	broad.mit.edu	37	4	183675559	183675559	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:183675559G>A	uc003ivd.1	+	20	4114	c.4039G>A	c.(4039-4041)Gac>Aac	p.D1347N	ODZ3_uc003ive.1_Missense_Mutation_p.D760N	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1347					signal transduction	integral to membrane		p.D1347A(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGGCCCACTGACCTAGCCAT	0.398000														14			6		0	0	0.001168	0	0
DCC	1630	broad.mit.edu	37	18	50278616	50278616	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:50278616G>C	uc002lfe.2	+	1	900	c.284G>C	c.(283-285)gGg>gCg	p.G95A	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	95	Ig-like C2-type 1.				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)		CTTTCAAATGGGTCTCTGCTG	0.463000														93			11		0	0	0.013537	0	0
ZC3H13	23091	broad.mit.edu	37	13	46554046	46554046	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:46554046C>T	uc010tfw.1	-	9	1820	c.1814G>A	c.(1813-1815)aGa>aAa	p.R605K	ZC3H13_uc001vas.1_Missense_Mutation_p.R605K|ZC3H13_uc001vat.1_Missense_Mutation_p.R605K	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	605	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATATCTATCTCTTTCAGGATA	0.438000														89			15		0	0	0.007413	0	0
EPPK1	83481	broad.mit.edu	37	8	144941969	144941969	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:144941969C>T	uc003zaa.1	-	0	5466	c.5453G>A	c.(5452-5454)gGa>gAa	p.G1818E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1818						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)			ACTCTGGGCTCCATACTCCTG	0.547000														141			45		0	0	0.010771	0	0
GCNT1	2650	broad.mit.edu	37	9	79117943	79117943	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:79117943C>T	uc022bif.1	+	0	646	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	GCNT1_uc010mpf.3_Missense_Mutation_p.L216F|GCNT1_uc010mpg.3_Missense_Mutation_p.L216F|GCNT1_uc010mph.3_Missense_Mutation_p.L216F|GCNT1_uc004akf.4_Missense_Mutation_p.L216F|GCNT1_uc010mpi.3_Missense_Mutation_p.L216F|GCNT1_uc004akh.4_Missense_Mutation_p.L216F	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	216	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CTTGATAAATCTTTGTGGTAT	0.443000														39			15		0	0	0.002450	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403783	47403783	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:47403783C>T	uc001cqp.4	-	1	273	c.222G>A	c.(220-222)cgG>cgA	p.R74R	CYP4A11_uc001cqq.2_Silent_p.R74R|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	74					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	ATTTCTGAATCCGTTGTAGCT	0.488000														77			15		0	0	0.004007	0	0
PALLD	23022	broad.mit.edu	37	4	169433032	169433032	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:169433032C>T	uc011cjx.2	+	1	588	c.377C>T	c.(376-378)cCc>cTc	p.P126L	PALLD_uc003iru.3_Missense_Mutation_p.P126L	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	126					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GCCATGTCACCCCTGCTCACC	0.512000									Pancreatic Cancer, Familial Clustering of					49			8		0	0	0.004482	0	0
ITPR3	3710	broad.mit.edu	37	6	33636831	33636832	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:33636831_33636832GG>AC	uc021ywr.1	+	17	2311_2312	c.2087_2088GG>AC	c.(2086-2088)tgg>tAC	p.W696Y		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	696					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGCTCACGTGGACTGACAAGA	0.584000														112			21		0	0	0.004672	0	0
HCRTR1	3061	broad.mit.edu	37	1	32086541	32086541	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:32086541G>A	uc009vtx.2	+	4	861	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	HCRTR1_uc001btc.4_Missense_Mutation_p.R73Q|HCRTR1_uc001btd.2_Missense_Mutation_p.R159Q|HCRTR1_uc010ogl.2_Missense_Mutation_p.R159Q	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	159					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		AGCACAGCCCGGCGGGCCCGT	0.617000														54			14		0	0	0.003163	0	0
CHST10	9486	broad.mit.edu	37	2	101014497	101014497	+	Silent	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:101014497G>T	uc002tam.3	-	4	698	c.300C>A	c.(298-300)ctC>ctA	p.L100L		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	100					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGTGTGCGAGAGATTCTTCA	0.527000														102			20		9.95505e-16	1.02846e-15	0.014323	1	0
CA10	56934	broad.mit.edu	37	17	50149681	50149681	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:50149681G>A	uc002itv.4	-	2	888	c.152C>T	c.(151-153)cCa>cTa	p.P51L	CA10_uc002itw.4_Missense_Mutation_p.P45L|CA10_uc002itx.4_Missense_Mutation_p.P45L|CA10_uc002ity.4_Missense_Mutation_p.P45L|CA10_uc002itz.2_Missense_Mutation_p.P45L	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	45					brain development			p.W50C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GTACTTACCTGGAACAAAGCT	0.368000														61			11		0	0	0.013537	0	0
GABRQ	55879	broad.mit.edu	37	X	151821280	151821280	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:151821280C>T	uc004ffp.1	+	8	1455	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	479						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTTTTCCTACCGAAAT	0.542000														58			27		0	0	0.006320	0	0
FLG	2312	broad.mit.edu	37	1	152277785	152277785	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:152277785T>C	uc001ezu.1	-	2	9613	c.9577A>G	c.(9577-9579)Aga>Gga	p.R3193G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3193	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)			TGTGAGTGTCTAGAGATGTCG	0.542000									Ichthyosis					156			39		0	0	0.009718	0	0
MATR3	9782	broad.mit.edu	37	5	138643519	138643519	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:138643519C>T	uc003ldw.3	+	2	818	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S	MATR3_uc003lds.3_Missense_Mutation_p.P139S|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.P139S|MATR3_uc010jfb.3_Missense_Mutation_p.P139S|MATR3_uc003ldx.3_Missense_Mutation_p.P139S|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.P139S|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	139						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGAGAATTTGCCCCAAATCCT	0.473000														32			7		0	0	0.001984	0	0
ALDH9A1	223	broad.mit.edu	37	1	165649914	165649914	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:165649914G>A	uc001gdh.1	-	4	704	c.599C>T	c.(598-600)gCc>gTc	p.A200V	ALDH9A1_uc010pky.1_Missense_Mutation_p.A106V|ALDH9A1_uc010pkz.1_Missense_Mutation_p.A190V|ALDH9A1_uc010pla.1_Missense_Mutation_p.A106V	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	176					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AAAGACCATGGCATTACCTGC	0.428000														64			21		0	0	0.016522	0	0
AKAP1	8165	broad.mit.edu	37	17	55193564	55193564	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:55193564C>T	uc010wnl.2	+	7	2656	c.2374C>T	c.(2374-2376)Cga>Tga	p.R792*	AKAP1_uc002iux.3_Nonsense_Mutation_p.R792*|AKAP1_uc021uak.1_Nonsense_Mutation_p.R792*|AKAP1_uc010dcm.3_Nonsense_Mutation_p.R792*	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	792	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGTGGAGATTCGATACGTGGA	0.607000														69			4		0	0	0.001168	0	0
NLRP8	126205	broad.mit.edu	37	19	56465910	56465910	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:56465910C>T	uc002qmh.3	+	2	557	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NLRP8_uc010etg.3_Silent_p.F162F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	162						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)		AAAAGTTTTTCCCCATATGGG	0.443000														53			9		0	0	0.008291	0	0
FLG2	388698	broad.mit.edu	37	1	152323829	152323829	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:152323829C>T	uc001ezw.4	-	2	6506	c.6433G>A	c.(6433-6435)Gga>Aga	p.G2145R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2145							calcium ion binding|structural molecule activity	p.Q2144H(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATAGTTCCCTGTCTCCCG	0.507000														300			80		0	0	0.014410	0	0
IGF2R	3482	broad.mit.edu	37	6	160496916	160496916	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:160496916C>T	uc003qta.3	+	35	5352	c.5204C>T	c.(5203-5205)cCa>cTa	p.P1735L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1735					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATACTCAATCCAATAGCAAAT	0.428000														76			17		0	0	0.004990	0	0
DSC1	1823	broad.mit.edu	37	18	28710560	28710560	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:28710560G>A	uc002kwn.3	-	15	2864	c.2602C>T	c.(2602-2604)Cgg>Tgg	p.R868W	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	868					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTTCCTGCCGATCGCTGCAG	0.433000														93			16		0	0	0.008871	0	0
ZNF761	388561	broad.mit.edu	37	19	53958449	53958449	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:53958449T>A	uc010eqp.3	+	6	1146	c.688T>A	c.(688-690)Tta>Ata	p.L230I	ZNF761_uc010ydy.2_Missense_Mutation_p.L176I|ZNF761_uc002qbt.2_Missense_Mutation_p.L176I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGCTCACTCTTAAGGAAACA	0.368000														80			24		0	0	0.003330	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969550	5969551	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:5969550_5969551CC>TT	uc002kmz.4	-	17	1642_1643	c.1482_1483GG>AA	c.(1480-1485)gtggag>gtAAag	p.E495K	L3MBTL4_uc002kmy.4_Missense_Mutation_p.E486K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E495K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	495					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V494V(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TGCGCCTGCTCCACCGAGTATT	0.624000														29			15		0	0	0.004672	0	0
GABRB1	2560	broad.mit.edu	37	4	47427981	47427981	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:47427981C>T	uc003gxh.3	+	8	1745	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	GABRB1_uc011bze.2_Silent_p.F387F	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	457					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATGTTTTTCCCCATCACCT	0.458000														81			19		0	0	0.008871	0	0
IMPG1	3617	broad.mit.edu	37	6	76751792	76751792	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:76751792G>T	uc003pik.1	-	1	249	c.119C>A	c.(118-120)cCa>cAa	p.P40Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	40					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATTTCTTGGGGGATTGTC	0.313000														100			13		1.05317e-09	1.08152e-09	0.002450	1	0
AK300121	0	broad.mit.edu	37	12	52647020	52647020	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:52647020C>T	uc010snr.1	-	5	847	c.499G>A	c.(499-501)Gag>Aag	p.E167K	KRT86_uc010snq.2_Intron					SubName: Full=cDNA FLJ60029, highly similar to Keratin, type II cuticular Hb3;																		TTCTCCACCTCGGCTGTCAGC	0.612000														39			18		0	0	0.007413	0	0
UNC5A	90249	broad.mit.edu	37	5	176295819	176295819	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:176295819C>T	uc003mey.3	+	4	767	c.575C>T	c.(574-576)cCg>cTg	p.P192L	UNC5A_uc003mex.1_Missense_Mutation_p.P192L|UNC5A_uc010jkg.1_Missense_Mutation_p.P152L	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	192	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTGGACCCGTCCCTGGAC	0.662000														53			21		0	0	0.016522	0	0
CEP72	55722	broad.mit.edu	37	5	640714	640714	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:640714G>A	uc003jbf.3	+	8	1606	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	512					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CACACACAAGGAGCTGGTGAG	0.622000														33			4		0	0	0.009096	0	0
SLC13A1	6561	broad.mit.edu	37	7	122757627	122757627	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:122757627C>T	uc003vkm.3	-	13	1573	c.1548G>A	c.(1546-1548)ctG>ctA	p.L516L	SLC13A1_uc010lks.3_Silent_p.L392L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	516						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TAGAAGGTATCAGAATATAAA	0.363000														39			4		0	0	0.009096	0	0
HK3	3101	broad.mit.edu	37	5	176314054	176314054	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:176314054G>A	uc003mfa.3	-	12	1898	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	HK3_uc003mez.3_Silent_p.L158L	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	602	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AACCCAGTGGGAGGCTCTGCC	0.607000														24			8		0	0	0.003080	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834905	61834905	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:61834905G>A	uc002yeh.3	-	3	681	c.387C>T	c.(385-387)ttC>ttT	p.F129F	YTHDF1_uc011aaq.2_Silent_p.F79F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	129								p.A128A(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CCCATGCTGAGAACGCAGGGT	0.567000														49			24		0	0	0.016522	0	0
NLRP4	147945	broad.mit.edu	37	19	56369627	56369627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:56369627C>T	uc002qmd.4	+	2	1290	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.Q215*|NLRP4_uc010etf.3_Nonsense_Mutation_p.Q121*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	290	NACHT.						ATP binding	p.Q290*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCGGGATCAGGTGACGAT	0.537000														75			20		0	0	0.010504	0	0
GPR115	221393	broad.mit.edu	37	6	47682440	47682440	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:47682440C>T	uc003oyz.1	+	6	1630	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	GPR115_uc003oza.1_Silent_p.L487L|GPR115_uc003ozb.1_Silent_p.L487L|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	487					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y543H(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTACCTCTCTCTGTTTTTCTG	0.408000														198			28		0	0	0.007291	0	0
TRPM6	140803	broad.mit.edu	37	9	77377921	77377921	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:77377921C>T	uc004ajl.1	-	25	3904	c.3666G>A	c.(3664-3666)ctG>ctA	p.L1222L	TRPM6_uc004ajk.1_Silent_p.L1217L|TRPM6_uc022bib.1_Silent_p.L1217L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.L178L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1222					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAGGACTTTCAGGGTATCCA	0.473000														68			14		0	0	0.006122	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:8841889C>T	uc010xkg.2	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000														128			31		0	0	0.004878	0	0
MUC16	94025	broad.mit.edu	37	19	9056720	9056720	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9056720C>T	uc002mkp.3	-	2	30930	c.30726G>A	c.(30724-30726)ggG>ggA	p.G10242G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10244	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						AGGAGGTTATCCCAGTGGACT	0.458000														51			12		0	0	0.010729	0	0
FAM71A	149647	broad.mit.edu	37	1	212798721	212798721	+	RNA	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:212798721G>A	uc010pth.1	-	0		c.1393C>T			FAM71A_uc001hjk.3_Missense_Mutation_p.E168K			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCCTATTGGGAAAAACTAAT	0.498000														144			34		0	0	0.003755	0	0
SYNE1	23345	broad.mit.edu	37	6	152826376	152826376	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:152826376G>A	uc021zhb.1	-	6	961	c.738C>T	c.(736-738)gcC>gcT	p.A246A	SYNE1_uc003qot.4_Silent_p.A253A|SYNE1_uc003qou.4_Silent_p.A246A|SYNE1_uc010kjb.1_Silent_p.A246A|SYNE1_uc003qpa.1_Silent_p.A246A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	246	Actin-binding.|CH 2.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.A246T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCTGTTTCGGCGATAGTGA	0.428000										HNSCC(10;0.0054)				80			8		0	0	0.006214	0	0
SPICE1	152185	broad.mit.edu	37	3	113175994	113175994	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:113175994G>A	uc003eag.4	-	12	1937	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	SPICE1_uc003eaf.4_Non-coding_Transcript|SPICE1_uc003eah.1_Missense_Mutation_p.P445L	NM_144718	NP_653319	Q8N0Z3	SPICE_HUMAN	Homo sapiens spindle and centriole associated protein 1 (SPICE1), mRNA.	549					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GTCCTGAAGAGGAGAGAATTT	0.363000														24			7		0	0	0.003080	0	0
OR10H1	26539	broad.mit.edu	37	19	15918755	15918755	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:15918755G>A	uc002nbq.2	-	0	182	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCAGCAGGAACAGCAGGA	0.592000														81			19		0	0	0.016522	0	0
OR1S2	219958	broad.mit.edu	37	11	57971483	57971483	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:57971483G>A	uc010rkb.2	-	0	171	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G56W(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CCACAATGATGAGCCCGTTCC	0.458000														70			10		0	0	0.008291	0	0
ESM1	11082	broad.mit.edu	37	5	54275181	54275181	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:54275181C>T	uc003jpk.3	-	2	603	c.534G>A	c.(532-534)agG>agA	p.R178R	ESM1_uc010ivt.3_Silent_p.R128R	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	178					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTAACCATTTCCTCATTACGG	0.438000														120			14		0	0	0.006122	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311567	6311567	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:6311567G>A	uc002kmz.4	-	2	218	c.58C>T	c.(58-60)Cag>Tag	p.Q20*	L3MBTL4_uc002kmy.4_Nonsense_Mutation_p.Q20*|L3MBTL4_uc010dkt.3_Nonsense_Mutation_p.Q20*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	20					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CGTCCGTCCTGATCCAAACGC	0.483000														236			51		0	0	0.014410	0	0
PDZD2	23037	broad.mit.edu	37	5	32053928	32053928	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:32053928G>A	uc003jhl.3	+	9	2227	c.1839G>A	c.(1837-1839)ggG>ggA	p.G613G	PDZD2_uc003jhm.3_Silent_p.G613G|PDZD2_uc011cnx.1_Silent_p.G439G	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	613	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACAGATGGGGATTTTTGTCA	0.478000														134			25		0	0	0.009535	0	0
ETV6	2120	broad.mit.edu	37	12	12022745	12022746	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:12022745_12022746CC>TT	uc001qzz.3	+	4	1125_1126	c.851_852CC>TT	c.(850-852)tcc>tTT	p.S284F	ETV6_uc001raa.1_Missense_Mutation_p.S77F	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	284						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCCGGCACTCCGTGGATTTCA	0.609000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									53			11		0	0	0.004672	0	0
BVES	11149	broad.mit.edu	37	6	105564691	105564691	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:105564691C>T	uc003pqw.3	-	5	858	c.701G>A	c.(700-702)aGa>aAa	p.R234K	BVES_uc003pqx.3_Missense_Mutation_p.R234K|BVES_uc003pqy.3_Missense_Mutation_p.R234K	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	234					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GTATGTTAATCTTTCTCTTGA	0.338000														29			5		0	0	0.001168	0	0
SREBF1	6720	broad.mit.edu	37	17	17720736	17720736	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:17720736C>T	uc002gru.2	-	7	1634	c.1440G>A	c.(1438-1440)cgG>cgA	p.R480R	SREBF1_uc002grp.2_Silent_p.R99R|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Silent_p.R226R|SREBF1_uc002grs.2_Silent_p.R456R|SREBF1_uc002grt.2_Silent_p.R510R	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	480	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCAGCATGCCCCGGCTGTGCA	0.697000														16			5		0	0	0.001168	0	0
CCNA1	8900	broad.mit.edu	37	13	37011885	37011885	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:37011885G>A	uc001uvr.4	+	2	767	c.417G>A	c.(415-417)atG>atA	p.M139I	CCNA1_uc010teo.2_Missense_Mutation_p.M95I|CCNA1_uc010abq.3_Missense_Mutation_p.M95I|CCNA1_uc010abp.3_Missense_Mutation_p.M95I|CCNA1_uc001uvs.4_Missense_Mutation_p.M138I|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	139					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		ACATCTACATGGATGAACTAG	0.527000														55			14		0	0	0.001855	0	0
SIDT1	54847	broad.mit.edu	37	3	113330992	113330992	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:113330992C>T	uc021xcn.1	+	18	2568	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Silent_p.A639A|SIDT1_uc011big.2_Silent_p.A392A|SIDT1_uc021xcq.1_Silent_p.A92A|SIDT1_uc011bii.2_Silent_p.A92A	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	639						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						ACGTTCTGGCCTCGCTAGCCC	0.413000														72			18		0	0	0.012319	0	0
FAM83B	222584	broad.mit.edu	37	6	54806232	54806232	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:54806232C>T	uc003pck.3	+	4	2579	c.2463C>T	c.(2461-2463)gaC>gaT	p.D821D		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	821										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGAAATCAGACACAAAAGTTG	0.378000														31			6		0	0	0.001984	0	0
GPC5	2262	broad.mit.edu	37	13	92408644	92408644	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:92408644C>T	uc010tif.2	+	4	1616	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	417						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATGGACTTCCCTGCTGGAAT	0.393000														70			13		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140307642	140307642	+	Missense_Mutation	SNP	G	A	A	rs150006101		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:140307642G>A	uc003lih.2	+	0	1341	c.1165G>A	c.(1165-1167)Gct>Act	p.A389T	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.A389T	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	414	Cadherin 4.				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)			TCAGCTGACGGCTTCCTTTGA	0.507000														44			9		0	0	0.010729	0	0
GRM4	2914	broad.mit.edu	37	6	34101063	34101063	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:34101063T>C	uc003oir.4	-	0	574	c.211A>G	c.(211-213)Aag>Gag	p.K71E	GRM4_uc011dsn.2_Missense_Mutation_p.K71E|GRM4_uc010jvh.3_Missense_Mutation_p.K71E|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_5'UTR	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	71					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTTTCCTTCTTAAGTTCTCCA	0.612000														52			6		0	0	0.001168	0	0
ATP11A	23250	broad.mit.edu	37	13	113439572	113439572	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:113439572G>A	uc001vsj.4	+	2	250	c.162_splice	c.e2+1	p.K54_splice	ATP11A_uc001vsi.4_Splice_Site_p.K54_splice|ATP11A_uc001vsm.1_Splice_Site	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	54					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTCGTCCAAGGTAACTTGGCT	0.577000														65			33		0	0	0.004289	0	0
DAB2	1601	broad.mit.edu	37	5	39377003	39377003	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:39377003G>A	uc003jlx.3	-	11	2417	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L	DAB2_uc003jlw.3_Missense_Mutation_p.P608L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	629					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GATGTCCTTGGGAGGGCCAGC	0.527000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			26		0	0	0.005443	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092868	151092868	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:151092868G>A	uc022cgv.1	+	0	732	c.732G>A	c.(730-732)agG>agA	p.R244R	MAGEA4_uc004fez.3_Silent_p.R244R|MAGEA4_uc004ffa.3_Silent_p.R244R|MAGEA4_uc004ffb.3_Silent_p.R244R|MAGEA4_uc022cgu.1_Silent_p.R272R|MAGEA4_uc004ffc.3_Silent_p.R244R|MAGEA4_uc004ffd.3_Silent_p.R244R	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	244	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCCCAGGAAACTGCTCA	0.592000														57			21		0	0	0.010504	0	0
SH3GL2	6456	broad.mit.edu	37	9	17787503	17787503	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:17787503G>A	uc003zna.3	+	4	745	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SH3GL2_uc011lmx.1_Missense_Mutation_p.E118K|SH3GL2_uc011lmy.2_Missense_Mutation_p.E106K	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	153	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGATCTTAGGGAAATTCAAGT	0.403000														39			6		0	0	0.001168	0	0
C1orf87	127795	broad.mit.edu	37	1	60505758	60505758	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:60505758T>C	uc001czs.2	-	4	686	c.578A>G	c.(577-579)aAc>aGc	p.N193S		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	193							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCTAATAAGTTGGAACTCAA	0.448000														65			17		0	0	0.004990	0	0
FGB	2244	broad.mit.edu	37	4	155491713	155491713	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:155491713G>A	uc003ioa.4	+	7	1426	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	FGB_uc010ipv.3_Missense_Mutation_p.D404N	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	463	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TGGCACAGATGATGGTGTAGT	0.483000														50			9		0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	3263621	3263621	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:3263621C>T	uc022aqr.1	-	14	2584	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	CSMD1_uc011kwj.2_Missense_Mutation_p.G125R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	733	Sushi 4.					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)		GACTCGGATCCCTGGGTCTTG	0.562000														40			7		0	0	0.001984	0	0
GRM6	2916	broad.mit.edu	37	5	178417676	178417676	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:178417676C>T	uc003mjr.3	-	3	1108	c.929G>A	c.(928-930)gGa>gAa	p.G310E	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	310					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTCTTGGCTCCCCAGCTGTC	0.667000														10			6		0	0	0.001168	0	0
LILRA1	11024	broad.mit.edu	37	19	55106623	55106623	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:55106623G>A	uc002qgh.1	+	4	599	c.417G>A	c.(415-417)ggG>ggA	p.G139G	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.G139G	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	139	Ig-like C2-type 2.				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)		CCTCAGGAGGGAACGTGACCC	0.542000														106			22		0	0	0.012319	0	0
SCN2A	6326	broad.mit.edu	37	2	166243504	166243504	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:166243504G>A	uc002udc.3	+	25	5090	c.4800G>A	c.(4798-4800)gtG>gtA	p.V1600V	SCN2A_uc002udd.3_Silent_p.V1600V|SCN2A_uc002ude.3_Silent_p.V1600V|SCN2A_uc021vry.1_Silent_p.V100V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1600					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)	TTGATTTTGTGGTGGTCATTC	0.333000														69			19		0	0	0.012319	0	0
KLK8	11202	broad.mit.edu	37	19	51503822	51503822	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:51503822C>T	uc002puq.1	-	2	409	c.223G>A	c.(223-225)Gag>Aag	p.E75K	KLK9_uc002puw.1_Non-coding_Transcript|KLK8_uc002pur.1_Missense_Mutation_p.E30K|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.E30K|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	30	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACCTTGTCCTCCTGTGCCCTG	0.632000														58			6		0	0	0.001168	0	0
C1orf173	127254	broad.mit.edu	37	1	75038009	75038009	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:75038009C>T	uc001dgg.3	-	13	3604	c.3385G>A	c.(3385-3387)Gaa>Aaa	p.E1129K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1129	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAGGTGCTTCGTTCTCAGCA	0.468000														60			7		0	0	0.001984	0	0
SLAIN1	122060	broad.mit.edu	37	13	78320899	78320899	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:78320899C>T	uc010thy.1	+	3	718	c.675C>T	c.(673-675)tcC>tcT	p.S225S	SLAIN1_uc001vkk.2_Silent_p.S148S|SLAIN1_uc010thz.1_Silent_p.S103S|SLAIN1_uc001vkl.1_Silent_p.S104S|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Silent_p.S104S	NM_001040153	NP_653196	Q8ND83	SLAI1_HUMAN	Homo sapiens SLAIN motif family, member 1 (SLAIN1), transcript variant 1, mRNA.	367										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)		GCCCCAGTTCCCAGTATTTTC	0.473000														78			36		0	0	0.005524	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190095	233190095	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:233190095C>T	uc001hvl.2	-	24	4505	c.4270G>A	c.(4270-4272)Gat>Aat	p.D1424N	PCNXL2_uc001hvk.1_Missense_Mutation_p.D76N|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1424						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTGAGGTCATCTGAAGCCAAA	0.453000														28			4		0	0	0.009096	0	0
TRPM7	54822	broad.mit.edu	37	15	50901824	50901824	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:50901824A>T	uc001zyt.4	-	18	2816	c.2534T>A	c.(2533-2535)tTt>tAt	p.F845Y	TRPM7_uc010bew.2_Missense_Mutation_p.F845Y|TRPM7_uc001zyu.3_Missense_Mutation_p.F403Y	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	845					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AAAGGCATAAAACTTTCGCGT	0.323000														38			7		0	0	0.004482	0	0
NBPF7	343505	broad.mit.edu	37	1	120379918	120379918	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:120379918C>T	uc010oxk.2	-	5	1524	c.903G>A	c.(901-903)tgG>tgA	p.W301*		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	301	NBPF 2.					cytoplasm		p.W301*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		GCCCACAAATCCACAGAGTTA	0.443000														287			54		0	0	0.014410	0	0
SNAP91	9892	broad.mit.edu	37	6	84269917	84269917	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:84269917C>T	uc021zcf.1	-	26	2567	c.2537G>A	c.(2536-2538)gGg>gAg	p.G846E	SNAP91_uc011dzd.2_Missense_Mutation_p.G344E|SNAP91_uc003pka.3_Missense_Mutation_p.G844E|SNAP91_uc011dze.2_Missense_Mutation_p.G844E|SNAP91_uc003pkc.3_Missense_Mutation_p.G816E|SNAP91_uc003pkd.3_Missense_Mutation_p.G539E|SNAP91_uc003pkb.3_Missense_Mutation_p.G755E	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	846	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CATGCCTGTCCCAGCAGGAGG	0.547000														68			13		0	0	0.004007	0	0
CSMD1	64478	broad.mit.edu	37	8	3205627	3205627	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:3205627G>A	uc022aqr.1	-	21	3751	c.3361C>T	c.(3361-3363)Cca>Tca	p.P1121S	CSMD1_uc011kwj.2_Missense_Mutation_p.P514S|CSMD1_uc003wqe.3_Missense_Mutation_p.P278S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1122	CUB 7.					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)		TAATTGGATGGAAAATTTGGA	0.393000														23			7		0	0	0.003080	0	0
NLE1	54475	broad.mit.edu	37	17	33464057	33464057	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:33464057G>A	uc002hiy.1	-	6	819	c.791C>T	c.(790-792)tCc>tTc	p.S264F	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	264						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGTCCTGGGAGGCAGAGTA	0.597000														101			15		0	0	0.012319	0	0
ITCH	83737	broad.mit.edu	37	20	33077189	33077189	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:33077189G>A	uc010geu.1	+	21	2527	c.2335G>A	c.(2335-2337)Gag>Aag	p.E779K	ITCH_uc002xak.2_Missense_Mutation_p.E738K|ITCH_uc010zuj.1_Missense_Mutation_p.E628K	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	779	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.E738Q(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AAAGGAATTAGAGGTAATGAA	0.368000														73			7		0	0	0.003080	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762216	130762216	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:130762216C>T	uc003qcb.3	+	1	3027	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	TMEM200A_uc003qca.3_Missense_Mutation_p.R217W|TMEM200A_uc010kfh.3_Missense_Mutation_p.R217W|TMEM200A_uc010kfi.3_Missense_Mutation_p.R217W|TMEM200A_uc021zfg.1_Missense_Mutation_p.R217W	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	217						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CTCGGGTTTTCGGAGCAGTTT	0.478000														24			8		0	0	0.003080	0	0
TAF6	6878	broad.mit.edu	37	7	99708909	99708909	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:99708909G>A	uc003uth.3	-	8	1244	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	TAF6_uc003utg.3_Silent_p.I234I|TAF6_uc003utm.3_Silent_p.I312I|TAF6_uc003uti.3_Silent_p.I312I|TAF6_uc003utk.3_Silent_p.I312I|TAF6_uc011kji.2_Silent_p.I349I	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	312					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCTGCTCACGATGCAGGTCA	0.527000														54			30		0	0	0.008361	0	0
ACSM4	341392	broad.mit.edu	37	12	7475053	7475053	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:7475053G>A	uc001qsx.1	+	6	1041	c.1041G>A	c.(1039-1041)ggG>ggA	p.G347G		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	347					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TGACCGGAGGGGAGCCACTCA	0.517000														39			7		0	0	0.003080	0	0
HHIP	64399	broad.mit.edu	37	4	145628247	145628247	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:145628247C>T	uc003ijs.2	+	5	1672	c.992C>T	c.(991-993)cCa>cTa	p.P331L		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	331						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGAAAAAATCCACACCAAGTT	0.383000														23			7		0	0	0.004482	0	0
CLVS1	157807	broad.mit.edu	37	8	62289219	62289219	+	Missense_Mutation	SNP	G	A	A	rs143211270	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:62289219G>A	uc003xuh.3	+	2	835	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CLVS1_uc003xug.2_3'UTR|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.E171K(2)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGTCCTAATCGAAGATCCGGA	0.438000														71			7		0	0	0.003080	0	0
CDK19	23097	broad.mit.edu	37	6	110953310	110953310	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:110953310A>T	uc003puh.1	-	5	642	c.569T>A	c.(568-570)tTg>tAg	p.L190*	CDK19_uc003pui.1_Nonsense_Mutation_p.L130*|CDK19_uc011eax.1_Nonsense_Mutation_p.L66*	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	190	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TACTGGATCCAAATCTGCTAG	0.348000														44			9		0	0	0.006214	0	0
CENPE	1062	broad.mit.edu	37	4	104067143	104067143	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:104067143A>G	uc003hxb.1	-	29	4346	c.4256T>C	c.(4255-4257)aTa>aCa	p.I1419T	CENPE_uc003hxc.1_Missense_Mutation_p.I1394T	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1419					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCTATTTCTATCCTTAGTAG	0.368000														93			11		0	0	0.002450	0	0
CCDC94	55702	broad.mit.edu	37	19	4267768	4267768	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:4267768C>T	uc002lzv.4	+	6	889	c.856C>T	c.(856-858)Cca>Tca	p.P286S		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	286										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCCCCACCCCAGGTAAGGT	0.657000											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			3		0	0	0.004672	0	0
SCN7A	6332	broad.mit.edu	37	2	167262763	167262763	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:167262763C>T	uc002udu.2	-	24	4506	c.4376G>A	c.(4375-4377)gGg>gAg	p.G1459E	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.	1459					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						AACTTGAGTCCCAGGGTTAAT	0.373000														69			14		0	0	0.003163	0	0
PDYN	5173	broad.mit.edu	37	20	1961131	1961131	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:1961131C>T	uc010gaj.3	-	2	845	c.603G>A	c.(601-603)gaG>gaA	p.E201E	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Silent_p.E201E|PDYN_uc021vzt.1_Silent_p.E201E|PDYN_uc021vzu.1_Silent_p.E201E|PDYN_uc002wfv.3_Silent_p.E201E	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	201					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACAGGTCCTCATGGCCCA	0.592000														89			30		0	0	0.013726	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715915	13715915	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:13715915C>T	uc001rbt.2	-	12	4436	c.4257G>A	c.(4255-4257)ccG>ccA	p.P1419P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1419					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCGGAAGTCCGGCCTGGCTT	0.612000														38			9		0	0	0.004482	0	0
TMEM225	338661	broad.mit.edu	37	11	123754052	123754052	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:123754052G>A	uc001pzi.3	-	3	679	c.471C>T	c.(469-471)ctC>ctT	p.L157L		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	157						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CTAGGAGAGAGAGGACTCCTA	0.453000														24			5		0	0	0.014758	0	0
CACNG7	59284	broad.mit.edu	37	19	54444813	54444813	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:54444813C>T	uc002qcr.2	+	3	609	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	CACNG7_uc010era.2_Missense_Mutation_p.H172Y	NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	172					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|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GCAGTATTTTCATTATCGCTA	0.532000														124			34		0	0	0.003755	0	0
COL4A1	1282	broad.mit.edu	37	13	110830467	110830467	+	Missense_Mutation	SNP	G	A	A	rs145861489		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:110830467G>A	uc001vqw.4	-	31	2692	c.2570C>T	c.(2569-2571)tCg>tTg	p.S857L		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	857	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGGGAGCCCCGACTGTCCCGT	0.552000														111			52		0	0	0.014410	0	0
PCLO	27445	broad.mit.edu	37	7	82545710	82545710	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:82545710G>A	uc003uhx.2	-	6	11881	c.11592C>T	c.(11590-11592)ttC>ttT	p.F3864F	PCLO_uc003uhv.2_Silent_p.F3864F|PCLO_uc010lec.3_Silent_p.F829F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3795	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAAACTGGCTGAATTCAGTTT	0.468000														271			121		0	0	0.014410	0	0
PDZD2	23037	broad.mit.edu	37	5	31983668	31983668	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:31983668C>T	uc003jhl.3	+	2	1272	c.884C>T	c.(883-885)cCa>cTa	p.P295L	PDZD2_uc003jhm.3_Missense_Mutation_p.P295L|PDZD2_uc011cnx.1_Missense_Mutation_p.P121L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	295					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATAGAATTCCAAAGACAGAT	0.517000														108			35		0	0	0.005524	0	0
DNAH9	1770	broad.mit.edu	37	17	11511499	11511499	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:11511499G>A	uc002gne.3	+	1	539	c.471G>A	c.(469-471)atG>atA	p.M157I	DNAH9_uc002gnd.1_Missense_Mutation_p.M157I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	157	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)		GGCCCCACATGATATGTGAGG	0.512000														137			29		0	0	0.008361	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209190278	209190278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:209190278C>T	uc002vcz.3	+	19	2901	c.2743C>T	c.(2743-2745)Cct>Tct	p.P915S	PIKFYVE_uc010fun.1_Missense_Mutation_p.P596S|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P859S	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	915					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCCTGGGATCCTGACATCCC	0.502000														44			5		0	0	0.014758	0	0
FANCI	55215	broad.mit.edu	37	15	89807213	89807213	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:89807213G>A	uc010bnp.1	+	7	715	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	FANCI_uc002bnm.1_Missense_Mutation_p.E209K|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bno.3_Missense_Mutation_p.E209K|FANCI_uc002bnp.1_Missense_Mutation_p.E30K	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	209					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATCTTCAAGAAATACCACC	0.418000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					56			16		0	0	0.004990	0	0
KIAA1429	25962	broad.mit.edu	37	8	95539567	95539567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:95539567G>A	uc003ygo.2	-	7	976	c.905C>T	c.(904-906)tCc>tTc	p.S302F	KIAA1429_uc003ygp.3_Missense_Mutation_p.S302F|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	302	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCATCACTGGAAATTTGTTC	0.318000														16			6		0	0	0.001168	0	0
GCKR	2646	broad.mit.edu	37	2	27726447	27726447	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27726447G>A	uc002rky.3	+	8	777	c.711G>A	c.(709-711)caG>caA	p.Q237Q	GCKR_uc010ezd.3_Silent_p.Q237Q|GCKR_uc010ylu.2_Silent_p.Q47Q	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	237	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AGAAAATGCAGGAGAAACAGA	0.507000														27			5		0	0	0.014758	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077196	19077196	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:19077196C>T	uc001mph.3	-	1	842	c.754G>A	c.(754-756)Gat>Aat	p.D252N	MRGPRX2_uc021qer.1_Missense_Mutation_p.D252N	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	252					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						ACATCAGAATCCTTCCAGATC	0.473000														55			6		0	0	0.003080	0	0
FBXL17	64839	broad.mit.edu	37	5	107216831	107216831	+	Silent	SNP	G	A	A	rs143348449	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:107216831G>A	uc011cvc.2	-	7	2279	c.1872C>T	c.(1870-1872)gtC>gtT	p.V624V	FBXL17_uc003kon.4_Silent_p.V226V	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	624										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TACACCATCCGACATCCACAG	0.468000														86			15		0	0	0.003163	0	0
UNC79	57578	broad.mit.edu	37	14	94046605	94046605	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:94046605C>T	uc001ybv.1	+	15	2096	c.2013C>T	c.(2011-2013)acC>acT	p.T671T	UNC79_uc001ybs.1_Silent_p.T671T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	848						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GATCCCACACCTGCCAGAAGG	0.453000														50			29		0	0	0.012213	0	0
FANCG	2189	broad.mit.edu	37	9	35079438	35079438	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:35079438C>T	uc003zwb.1	-	1	576	c.84_splice	c.e1+1	p.K28_splice	FANCG_uc010mkj.1_Splice_Site|FANCG_uc011lot.1_Splice_Site_p.K28_splice	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	28					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCGTGTTACCTTGGCCTGTC	0.612000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						83			23		0	0	0.003330	0	0
FAM125B	89853	broad.mit.edu	37	9	129154425	129154425	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:129154425C>T	uc004bqh.2	+	4	576	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	FAM125B_uc004bqg.2_Missense_Mutation_p.R164W|FAM125B_uc011lzy.2_Missense_Mutation_p.R149W|FAM125B_uc010mxd.3_Missense_Mutation_p.R157W|FAM125B_uc011lzz.1_Missense_Mutation_p.R157W	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	164	MABP.				protein transport	late endosome membrane		p.R164L(1)		kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						TTGTGACATTCGGATCATGGG	0.488000														101			26		0	0	0.004656	0	0
NUP155	9631	broad.mit.edu	37	5	37342727	37342727	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:37342727A>G	uc003jku.1	-	9	1135	c.1017T>C	c.(1015-1017)ttT>ttC	p.F339F	NUP155_uc003jkt.1_Silent_p.F280F|NUP155_uc010iuz.1_Silent_p.F339F	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	339					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATTGGTTTAAAAACAGAAC	0.313000														25			7		0	0	0.001984	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101409	80101409	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:80101409G>A	uc010ysh.2	+	4	798	c.793G>A	c.(793-795)Gac>Aac	p.D265N	CTNNA2_uc010yse.2_Missense_Mutation_p.D265N|CTNNA2_uc010ysf.2_Missense_Mutation_p.D265N|CTNNA2_uc010ysg.2_Missense_Mutation_p.D265N	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	265					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCGCCCACTGACGAAGCCAA	0.582000														56			17		0	0	0.004007	0	0
INPP4B	8821	broad.mit.edu	37	4	143235912	143235912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:143235912G>A	uc003iix.4	-	8	971	c.376C>T	c.(376-378)Cga>Tga	p.R126*	INPP4B_uc003iiw.4_Nonsense_Mutation_p.R126*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	126	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V125I(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					ACACTGGTTCGAACCTGTGGA	0.448000														115			35		0	0	0.006999	0	0
SLC37A2	219855	broad.mit.edu	37	11	124947412	124947412	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:124947412G>A	uc010sau.2	+	3	553	c.302G>A	c.(301-303)gGc>gAc	p.G101D	SLC37A2_uc001qbn.3_Missense_Mutation_p.G101D	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	101					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TATGCCATCGGCATGTTCATC	0.527000														39			11		0	0	0.008291	0	0
AKAP6	9472	broad.mit.edu	37	14	33293746	33293746	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:33293746G>A	uc001wrq.3	+	12	6897	c.6727G>A	c.(6727-6729)Gag>Aag	p.E2243K		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2243					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAAAACTTAGAGTTTACTCC	0.443000														30			12		0	0	0.002450	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307648	38307648	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:38307648C>T	uc003chz.3	+	0	351	c.297C>T	c.(295-297)ctC>ctT	p.L99L	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Silent_p.L99L	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	99						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AGGACATCCTCAGCCACCGCT	0.587000														34			8		0	0	0.003080	0	0
PAN2	9924	broad.mit.edu	37	12	56721365	56721365	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:56721365G>A	uc001skx.3	-	5	1079	c.702C>T	c.(700-702)gcC>gcT	p.A234A	PAN2_uc001sky.3_Silent_p.A234A|PAN2_uc001skz.3_Silent_p.A234A	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	234					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTCCTGAGAAGGCATCAAACT	0.468000														65			18		0	0	0.006122	0	0
DUSP26	78986	broad.mit.edu	37	8	33449668	33449668	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:33449668G>A	uc003xjp.3	-	3	832	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	DUSP26_uc003xjq.3_Missense_Mutation_p.L167F	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	167	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L167L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TACAGCATGAGGTAGGCCAGT	0.587000														26			9		0	0	0.004482	0	0
OR7D4	125958	broad.mit.edu	37	19	9324751	9324751	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9324751C>T	uc002mla.2	-	0	797	c.763G>A	c.(763-765)Gga>Aga	p.G255R		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACCCCAAGTCCTGTTCCATAG	0.532000														43			6		0	0	0.001168	0	0
LPA	4018	broad.mit.edu	37	6	161027540	161027540	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:161027540C>T	uc003qtl.3	-	17	2874	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3426	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P918L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTTGGAATCGGGGTAATAG	0.527000														121			20		0	0	0.003954	0	0
OR4K2	390431	broad.mit.edu	37	14	20344762	20344762	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:20344762C>T	uc001vwh.1	+	0	336	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAACTGAGATCATCTTACTCA	0.438000														69			28		0	0	0.006320	0	0
CXCL6	6372	broad.mit.edu	37	4	74702545	74702545	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:74702545C>T	uc003hhf.3	+	0	273	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_002993	NP_002984	P80162	CXCL6_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.	26					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCTGCTGCTCCTGCTGACGC	0.721000														23			7		0	0	0.001984	0	0
TMEM176B	28959	broad.mit.edu	37	7	150489193	150489193	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:150489193G>A	uc022apx.1	-	4	797	c.671C>T	c.(670-672)tCc>tTc	p.S224F	TMEM176B_uc003whu.4_Missense_Mutation_p.S224F|TMEM176B_uc003whv.4_Missense_Mutation_p.S187F|TMEM176B_uc003whw.4_Missense_Mutation_p.S224F	NM_014020	NP_054739	Q3YBM2	T176B_HUMAN	Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA.	224					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)		TACTCCCAAGGAAACCAAGGA	0.547000														49			15		0	0	0.004007	0	0
BMX	660	broad.mit.edu	37	X	15574231	15574231	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:15574231G>A	uc004cww.3	+	18	2177	c.1989G>A	c.(1987-1989)ctG>ctA	p.L663L	BMX_uc004cwx.4_Silent_p.L663L|BMX_uc004cwy.4_Silent_p.L663L	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	663	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGCAACTCCTGTCTTCCATTG	0.358000														57			37		0	0	0.013114	0	0
DEFA4	1669	broad.mit.edu	37	8	6794277	6794277	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:6794277C>T	uc003wqu.1	-	1	196	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	49					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGCTTTTATCCCATGCAAAG	0.547000														63			13		0	0	0.002450	0	0
PLCL2	23228	broad.mit.edu	37	3	17051844	17051844	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:17051844C>T	uc011awc.2	+	2	1078	c.982C>T	c.(982-984)Cat>Tat	p.H328Y	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.H210Y	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	336					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H210Y(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TGAGGTTTTTCATGAGCTTTG	0.338000														37			12		0	0	0.013537	0	0
GRB14	2888	broad.mit.edu	37	2	165476271	165476271	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:165476271C>T	uc002ucl.3	-	1	791	c.250G>A	c.(250-252)Gag>Aag	p.E84K		NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	84					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CAGCATAGCTCAGGAAAAGGG	0.338000														56			15		0	0	0.004007	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954598	72954598	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:72954598C>T	uc010uks.1	+	10	894	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	285								p.K284E(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAGCTAAGCCCCCATCCCT	0.522000														49			21		0	0	0.003330	0	0
REV3L	5980	broad.mit.edu	37	6	111696451	111696451	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:111696451G>T	uc003puy.4	-	12	3448	c.3107C>A	c.(3106-3108)cCc>cAc	p.P1036H	REV3L_uc003pux.4_Missense_Mutation_p.P958H|REV3L_uc003puz.4_Missense_Mutation_p.P958H	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1036					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGGATAAATGGGATATTTGGT	0.333000								DNA polymerases (catalytic subunits)						136			22		7.92952e-12	8.17558e-12	0.003954	1	0
DCDC5	100506627	broad.mit.edu	37	11	30902782	30902782	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:30902782G>T	uc009yjk.1	-	24	3560	c.3491C>A	c.(3490-3492)cCa>cAa	p.P1164Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.P823Q|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	66					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GGACTGAATTGGCTCTCCACT	0.498000														56			6		0.00116845	0.00119158	0.001168	1	0
MYH15	22989	broad.mit.edu	37	3	108178266	108178266	+	Nonsense_Mutation	SNP	T	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:108178266T>A	uc003dxa.1	-	18	2080	c.2023A>T	c.(2023-2025)Aaa>Taa	p.K675*		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	675	Actin-binding (By similarity).|Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGTTGATTTCAGATTAGTC	0.323000														42			10		0	0	0.010729	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058476	152058476	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:152058476C>T	uc001ezo.1	-	2	1747	c.1682G>A	c.(1681-1683)aGc>aAc	p.S561N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	561							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGTCTCTGAGCTGCTATTGCC	0.537000														113			36		0	0	0.015359	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073418	17073418	+	Missense_Mutation	SNP	G	A	A	rs148171132		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:17073418G>A	uc002zlp.1	-	0	283	c.23C>T	c.(22-24)gCc>gTc	p.A8V		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	8					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)				CAGCTCCAGGGCTGAAGGGAC	0.642000														48			9		0	0	0.006214	0	0
TAGAP	117289	broad.mit.edu	37	6	159457419	159457419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:159457419C>T	uc003qrz.3	-	9	1968	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	TAGAP_uc011eft.2_Missense_Mutation_p.E483K|TAGAP_uc003qsa.3_Missense_Mutation_p.E368K	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	546					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGCTGGCTTTCCTTTCTGACA	0.582000														129			9		0	0	0.004482	0	0
HLA-DRB5	3127	broad.mit.edu	37	6	32549529	32549529	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:32549529G>A	uc003obp.4	-	2	551	c.457C>T	c.(457-459)Cca>Tca	p.P153S	HLA-DRB5_uc003obk.4_Intron|HLA-DRB5_uc021yvx.1_Intron|HLA-DRB5_uc003obo.1_Intron|HLA-DRB5_uc011dqb.1_5'UTR|HLA-DRB5_uc011dqc.1_5'UTR	NM_002124	NP_002115	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 1 (HLA-DRB1), transcript variant 1, mRNA.	153	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						ATGCTGCCTGGATAGAAACCA	0.532000														117			5		0	0	0.010729	0	0
GSR	2936	broad.mit.edu	37	8	30538528	30538528	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:30538528C>T	uc003xih.2	-	11	1446	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	GSR_uc022ato.1_Missense_Mutation_p.E385K|GSR_uc022atp.1_Missense_Mutation_p.E409K|GSR_uc022atq.1_Missense_Mutation_p.E356K	NM_000637	NP_000628	P00390	GSHR_HUMAN	Homo sapiens glutathione reductase (GSR), transcript variant 1, mRNA.	438					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	TTCACATTTTCTATTCCATAT	0.353000														68			13		0	0	0.013537	0	0
BRAT1	221927	broad.mit.edu	37	7	2584620	2584620	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:2584620G>A	uc003smi.3	-	3	641	c.353C>T	c.(352-354)aCc>aTc	p.T118I	BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_5'Flank|BRAT1_uc003smj.2_Missense_Mutation_p.T118I	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	118					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GCTGCGCACGGTGGGGACGGC	0.687000														10			5		0	0	0.014758	0	0
PRIM2	5558	broad.mit.edu	37	6	57398263	57398263	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:57398263G>A	uc003pdx.3	+	9	1053	c.966G>A	c.(964-966)caG>caA	p.Q322Q		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	322					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTGGAACAGACATTGCAGT	0.368000														167			6		0	0	0.004482	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457331	42457331	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:42457331G>A	uc003gwr.2	-	28	3032	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	ATP8A1_uc003gwq.2_Silent_p.L160L|ATP8A1_uc003gws.2_Silent_p.L919L	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	934					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTGAAGTCCAGGGCATTCTGA	0.433000														40			15		0	0	0.004990	0	0
BTBD11	121551	broad.mit.edu	37	12	108029142	108029142	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:108029142C>T	uc001tmk.1	+	11	3233	c.2712C>T	c.(2710-2712)atC>atT	p.I904I	BTBD11_uc009zut.1_Silent_p.I785I|BTBD11_uc001tmj.3_Silent_p.I904I|BTBD11_uc001tml.1_Silent_p.I441I|BTBD11_uc001tmm.1_5'UTR	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	904						integral to membrane	DNA binding	p.I904I(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCACAGAAATCAAACGGAAAC	0.532000														80			11		0	0	0.008291	0	0
BLNK	29760	broad.mit.edu	37	10	97960771	97960771	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:97960771G>A	uc001kls.4	-	13	1156	c.978C>T	c.(976-978)ccC>ccT	p.P326P	BLNK_uc001kme.4_Silent_p.P221P|BLNK_uc001klt.4_Silent_p.P217P|BLNK_uc009xvc.3_Non-coding_Transcript|BLNK_uc001klu.4_Silent_p.P244P|BLNK_uc001klv.4_Silent_p.P221P|BLNK_uc001klw.4_Non-coding_Transcript|BLNK_uc001klx.4_Silent_p.P303P|BLNK_uc001kly.4_Silent_p.P326P|BLNK_uc001klz.4_Non-coding_Transcript|BLNK_uc001kma.4_Silent_p.P303P|BLNK_uc001kmb.4_Silent_p.P122P|BLNK_uc001kmc.4_Non-coding_Transcript|BLNK_uc001kmd.4_Silent_p.P244P|BLNK_uc009xvd.3_Non-coding_Transcript	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	326					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ATGAAAAGCTGGGTAGGGGCC	0.398000														94			23		0	0	0.004656	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122005761	122005761	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:122005761C>T	uc002tmx.3	-	4	576	c.483G>A	c.(481-483)aaG>aaA	p.K161K	TFCP2L1_uc010flr.3_Silent_p.K161K	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	161					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CAGAAGCTCTCTTCGCAGGGT	0.552000														30			4		0	0	0.009096	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173832016	173832016	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:173832016A>G	uc002uhv.4	+	9	1035	c.848A>G	c.(847-849)aAa>aGa	p.K283R	RAPGEF4_uc002uhu.2_Missense_Mutation_p.K283R|RAPGEF4_uc002uhw.4_Missense_Mutation_p.K139R|RAPGEF4_uc010zec.1_Missense_Mutation_p.K130R|RAPGEF4_uc010zed.1_Missense_Mutation_p.K112R|RAPGEF4_uc010zee.1_Missense_Mutation_p.K130R|RAPGEF4_uc010fqo.2_Missense_Mutation_p.K112R|RAPGEF4_uc010zef.1_Missense_Mutation_p.K63R|RAPGEF4_uc010zeg.1_Missense_Mutation_p.K110R|RAPGEF4_uc010fqp.1_Missense_Mutation_p.K63R|RAPGEF4_uc010zeh.1_Missense_Mutation_p.K63R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	283	DEP.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCCAAGACAAATATTTATTC	0.498000														17			6		0	0	0.004482	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611307	42611307	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:42611307G>A	uc003xpj.3	-	4	1391	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	CHRNA6_uc011lcw.2_Silent_p.F330F	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	345						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCAGCTTCAGGAAAACTGTCT	0.572000														62			11		0	0	0.013537	0	0
NAV3	89795	broad.mit.edu	37	12	78598739	78598739	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:78598739G>A	uc001syp.3	+	38	7032	c.6859G>A	c.(6859-6861)Gaa>Aaa	p.E2287K	NAV3_uc001syo.3_Missense_Mutation_p.E2265K|NAV3_uc010sub.2_Missense_Mutation_p.E1744K|NAV3_uc009zsf.3_Missense_Mutation_p.E1096K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2287						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACACCATGGGAAGATCCTTC	0.458000										HNSCC(70;0.22)				19			4		0	0	0.009096	0	0
ZNF615	284370	broad.mit.edu	37	19	52497966	52497966	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:52497966G>A	uc002pyf.2	-	6	713	c.396C>T	c.(394-396)ttC>ttT	p.F132F	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.F121F|ZNF615_uc002pyh.2_Silent_p.F132F|ZNF615_uc010epi.2_Silent_p.F128F|ZNF615_uc002pyg.2_Silent_p.F13F|ZNF615_uc010ydg.2_Silent_p.F126F	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D131G(1)		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)		GCTTCAGCAGGAAATGACCTT	0.343000														27			12		0	0	0.001855	0	0
ITGA7	3679	broad.mit.edu	37	12	56094741	56094742	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:56094741_56094742GG>AA	uc001shh.3	-	3	831_832	c.611_612CC>TT	c.(610-612)gcc>gTT	p.A204V	ITGA7_uc001shg.3_Missense_Mutation_p.A204V|ITGA7_uc010sps.2_Missense_Mutation_p.A107V|ITGA7_uc009znx.3_Missense_Mutation_p.A91V	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	204					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						CAGGGGAGAAGGCGGCAGCTGT	0.584000														36			9		0	0	0.004672	0	0
CRTC1	23373	broad.mit.edu	37	19	18853784	18853784	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:18853784C>T	uc010ebv.3	+	1	279	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CRTC1_uc002nkb.4_Missense_Mutation_p.S64F	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	64					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TATGGCGGGTCCCTGCCCAAC	0.667000														34			12		0	0	0.002450	0	0
HSD17B3	3293	broad.mit.edu	37	9	99013729	99013729	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:99013729G>A	uc004awa.1	-	4	472	c.424C>T	c.(424-426)Cat>Tat	p.H142Y	HSD17B3_uc010msc.1_Missense_Mutation_p.H142Y	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	142					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	TTCAGGAAATGGCTTGGGAGA	0.463000														49			11		0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55534821	55534821	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:55534821G>A	uc003xsd.1	+	2	908	c.760G>A	c.(760-762)Gga>Aga	p.G254R	RP1_uc011ldy.1_Missense_Mutation_p.G254R	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	254					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	p.G254*(2)|p.G64*(1)|p.G254E(1)		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)			GTACCCCAAGGGAAATGCAAA	0.423000														44			11		0	0	0.002450	0	0
CFH	3075	broad.mit.edu	37	1	196716319	196716319	+	Missense_Mutation	SNP	C	T	T	rs460897		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:196716319C>T	uc001gtj.4	+	21	3812	c.3572C>T	c.(3571-3573)tCg>tTg	p.S1191L	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1191	Sushi 20.		S -> L (in AHUS1; dbSNP:rs460897).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAGCTTTATTCGAGAACAGGT	0.383000														83			6		0	0	0.001855	0	0
RAI1	10743	broad.mit.edu	37	17	17698164	17698164	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:17698164G>A	uc002grm.3	+	2	2371	c.1902G>A	c.(1900-1902)aaG>aaA	p.K634K	RAI1_uc002grn.1_Silent_p.K634K	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	634						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCCTGGTCAAGGACAGCAGCA	0.672000														36			9		0	0	0.006214	0	0
CDH22	64405	broad.mit.edu	37	20	44869675	44869675	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:44869675C>T	uc002xrm.2	-	1	876	c.477G>A	c.(475-477)caG>caA	p.Q159Q	CDH22_uc010ghk.1_Silent_p.Q159Q	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	159	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CATTGATGTCCTGCACCTTGA	0.647000														100			16		0	0	0.007413	0	0
ADAM23	8745	broad.mit.edu	37	2	207310197	207310197	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:207310197C>T	uc002vbq.3	+	1	604	c.381C>T	c.(379-381)agC>agT	p.S127S	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	127					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACTCGGAAAGCCCTTATCACG	0.403000														134			22		0	0	0.016522	0	0
NONO	4841	broad.mit.edu	37	X	70511790	70511790	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:70511790C>T	uc004dzo.3	+	4	1026	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.H106Y|NONO_uc004dzp.3_Missense_Mutation_p.H106Y|NONO_uc011mpv.2_Missense_Mutation_p.H17Y|NONO_uc004dzq.3_5'Flank	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	106	DBHS.|RRM 1.				DNA recombination|DNA repair|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|RNA binding|identical protein binding|nucleotide binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGTCTTCATTCATAAGGATAA	0.438000			T	TFE3	papillary renal cancer									27			19		0	0	0.016522	0	0
RIMS1	22999	broad.mit.edu	37	6	73000453	73000453	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:73000453G>A	uc003pga.3	+	24	3703	c.3626G>A	c.(3625-3627)gGa>gAa	p.G1209E	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Intron|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Intron|RIMS1_uc011dyd.2_Intron|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Intron|RIMS1_uc011dyf.2_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1209					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTCATTAGGGGAAAACATCCT	0.517000														31			12		0	0	0.001855	0	0
CACNG6	59285	broad.mit.edu	37	19	54501531	54501531	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:54501531G>A	uc002qct.3	+	1	960	c.370G>A	c.(370-372)Gag>Aag	p.E124K	CACNG6_uc002qcu.3_Missense_Mutation_p.E124K|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	124						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CACCACGGGGGAGAATGCACG	0.512000														59			14		0	0	0.003163	0	0
ATP4A	495	broad.mit.edu	37	19	36054383	36054383	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:36054383C>T	uc002oal.1	-	1	88	c.59G>A	c.(58-60)gGg>gAg	p.G20E		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	20					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	AGCCATGTCCCCGCCAGGGCC	0.577000														156			45		0	0	0.011902	0	0
ME3	10873	broad.mit.edu	37	11	86157451	86157451	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:86157451C>T	uc001pbz.3	-	11	1713	c.1459G>A	c.(1459-1461)Gga>Aga	p.G487R	ME3_uc001pca.3_Missense_Mutation_p.G487R|ME3_uc009yvk.3_Missense_Mutation_p.G487R	NM_001014811	NP_001155058	Q16798	MAON_HUMAN	Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	487					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding	p.G487E(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCATTGTTTCCCTGCCCAGGA	0.557000														75			13		0	0	0.001855	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71281578	71281578	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:71281578G>A	uc002jjn.3	-	1	1209	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CDC42EP4_uc002jjo.3_Silent_p.I354I|CDC42EP4_uc002jjp.1_Silent_p.I284I|CDC42EP4_uc021ucn.1_Silent_p.I354I	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	354					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CTCACACACGGATTTCATCCT	0.642000														80			25		0	0	0.006320	0	0
TMEM105	284186	broad.mit.edu	37	17	79287683	79287683	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:79287683C>T	uc002kad.2	-	2	708	c.158G>A	c.(157-159)aGg>aAg	p.R53K		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	53						integral to membrane		p.R53S(1)		NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			GGGAGACGTCCTCGGGCCCTG	0.607000														106			24		0	0	0.003330	0	0
OTUD7B	56957	broad.mit.edu	37	1	149939391	149939391	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:149939391G>A	uc001etn.3	-	3	686	c.330C>T	c.(328-330)gcC>gcT	p.A110A	OTUD7B_uc001eto.3_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	110					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CATGGGACCGGGCCAGGGAAA	0.552000														60			23		0	0	0.004656	0	0
MYH8	4626	broad.mit.edu	37	17	10300222	10300222	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:10300222C>T	uc002gmm.2	-	30	4355	c.4260G>A	c.(4258-4260)acG>acA	p.T1420T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCGCTGCTTCGTCTTCTCAA	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					56			13		0	0	0.003163	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368261	86368261	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:86368261C>T	uc001vll.1	-	1	2842	c.2383G>A	c.(2383-2385)Gaa>Aaa	p.E795K	SLITRK6_uc021rla.1_Missense_Mutation_p.E795K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	795						integral to membrane		p.E795K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTCAGCTCTTCGTGGGCTCCA	0.393000														68			33		0	0	0.013726	0	0
TMEM74	157753	broad.mit.edu	37	8	109796614	109796614	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:109796614G>A	uc003ymy.1	-	1	819	c.714C>T	c.(712-714)ctC>ctT	p.L238L	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.L238L	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	238					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCAGCGTGAGGAGGCAGAGCC	0.602000														34			9		0	0	0.004482	0	0
AK022382	0	broad.mit.edu	37	10	52389901	52389901	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:52389901C>T	uc001jjf.1	+	1		c.594C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		GGGTCGTTTTCCTGAAAAATT	0.408000														11			5		0	0	0.001168	0	0
ANO4	121601	broad.mit.edu	37	12	101493391	101493391	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:101493391G>A	uc010svm.1	+	21	2614	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	ANO4_uc001thw.2_Missense_Mutation_p.R646Q|ANO4_uc001thx.2_Missense_Mutation_p.R681Q|ANO4_uc001thy.2_Missense_Mutation_p.R201Q	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	681						chloride channel complex	chloride channel activity	p.R646Q(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAAAAGTACGACAAGAACAT	0.353000										HNSCC(74;0.22)				47			9		0	0	0.008291	0	0
LNPEP	4012	broad.mit.edu	37	5	96349452	96349452	+	Silent	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:96349452A>C	uc003kmv.1	+	11	2650	c.2136A>C	c.(2134-2136)ctA>ctC	p.L712L	LNPEP_uc003kmw.1_Silent_p.L698L	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	712					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GGGAAGCACTAATCCATCAGT	0.363000														68			24		0	0	0.014323	0	0
ASPM	259266	broad.mit.edu	37	1	197060024	197060024	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:197060024G>A	uc001gtu.3	-	22	9849	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	ASPM_uc001gtv.3_Missense_Mutation_p.R1613C|ASPM_uc001gtw.4_Missense_Mutation_p.R1046C	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3198	IQ 38.				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						TGCTTTTTACGGAGGAGAAAA	0.358000														60			12		0	0	0.002450	0	0
ROR2	4920	broad.mit.edu	37	9	94485998	94485998	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:94485998C>T	uc004arj.2	-	8	2977	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	926					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CACAGTCCCCCAGCAGCTCAG	0.647000														86			13		0	0	0.013537	0	0
RETSAT	54884	broad.mit.edu	37	2	85581623	85581623	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:85581623A>T	uc002spd.3	-	0	199	c.8T>A	c.(7-9)cTt>cAt	p.L3H	ELMOD3_uc010fgg.2_5'Flank|ELMOD3_uc002spf.4_5'Flank|ELMOD3_uc002spg.4_5'Flank|ELMOD3_uc002sph.4_5'Flank|ELMOD3_uc010ysn.2_5'Flank|ELMOD3_uc010yso.2_5'Flank|ELMOD3_uc010ysp.2_5'Flank|RETSAT_uc010ysm.2_Missense_Mutation_p.L3H	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	3					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CACCAGCGGAAGCCACATCAC	0.612000														95			26		0	0	0.005443	0	0
COL12A1	1303	broad.mit.edu	37	6	75858121	75858121	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:75858121G>A	uc021zbv.1	-	20	4275	c.4240C>T	c.(4240-4242)Cga>Tga	p.R1414*	COL12A1_uc021zbw.1_Nonsense_Mutation_p.R250*|COL12A1_uc003phs.3_Nonsense_Mutation_p.R1414*|COL12A1_uc003pht.3_Nonsense_Mutation_p.R250*	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1414	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTTATATCGATCCACACTG	0.433000														45			9		0	0	0.006214	0	0
PDZD2	23037	broad.mit.edu	37	5	32091151	32091151	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:32091151G>A	uc003jhl.3	+	19	7985	c.7597G>A	c.(7597-7599)Gag>Aag	p.E2533K	PDZD2_uc003jhm.3_Missense_Mutation_p.E2533K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2533					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTCGTGTCCCGAGAAGGGCGG	0.617000														51			10		0	0	0.010729	0	0
CCDC73	493860	broad.mit.edu	37	11	32724469	32724469	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:32724469C>T	uc001mtv.3	-	3	273	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	CCDC73_uc001mtw.1_Missense_Mutation_p.E77K|CCDC73_uc009yjt.3_Missense_Mutation_p.E77K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	77										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCCAATGTTTCCTTTTGATTC	0.318000														79			20		0	0	0.012319	0	0
TMEM19	55266	broad.mit.edu	37	12	72092798	72092798	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:72092798C>T	uc001sws.3	+	4	1339	c.756C>T	c.(754-756)gcC>gcT	p.A252A	TMEM19_uc001swr.1_Silent_p.A238A	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	252						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ACATTTCTGCCCCGCAGTGGC	0.453000														98			11		0	0	0.010729	0	0
HSF5	124535	broad.mit.edu	37	17	56540236	56540236	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:56540236T>G	uc002iwi.1	-	3	1573	c.1449A>C	c.(1447-1449)caA>caC	p.Q483H		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGACATGAGCTTGCTGGATGG	0.473000														125			35		0	0	0.004878	0	0
NUP214	8021	broad.mit.edu	37	9	134072836	134072836	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:134072836G>A	uc004cag.3	+	28	4066	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	NUP214_uc004cah.3_Missense_Mutation_p.E1309K|NUP214_uc004cai.3_Missense_Mutation_p.E749K|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.E145K|NUP214_uc011mcf.1_Missense_Mutation_p.E96K|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1319	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CAAGCTGGGAGAGCTTCTGTT	0.522000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									110			16		0	0	0.006122	0	0
NF1	4763	broad.mit.edu	37	17	29653263	29653263	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:29653263C>T	uc002hgg.3	+	36	5644	c.5261C>T	c.(5260-5262)tCt>tTt	p.S1754F	NF1_uc002hgh.3_Missense_Mutation_p.S1733F|NF1_uc002hgi.1_Missense_Mutation_p.S766F|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1754					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAAAGTTTCTATTAAAGTA	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				31			7		0	0	0.004482	0	0
CDH22	64405	broad.mit.edu	37	20	44828153	44828153	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:44828153G>A	uc002xrm.2	-	6	1731	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	CDH22_uc010ghk.1_Silent_p.I444I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	444	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGTCCGCATCGATATCGAAGA	0.632000														41			21		0	0	0.016522	0	0
ZNF530	348327	broad.mit.edu	37	19	58118641	58118641	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:58118641C>T	uc002qpk.2	+	2	1968	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_Intron	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGAAAATCCTTTAGCCAA	0.378000														22			10		0	0	0.008291	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128671	103128671	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:103128671C>T	uc002tbz.4	+	6	1955	c.1498C>T	c.(1498-1500)Cac>Tac	p.H500Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	500					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCTGATGGATCACTTAAAGGC	0.443000														118			20		0	0	0.014323	0	0
CCR6	1235	broad.mit.edu	37	6	167550381	167550381	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:167550381T>C	uc003qvl.3	+	12	3139	c.663T>C	c.(661-663)ttT>ttC	p.F221F	CCR6_uc010kkm.3_Silent_p.F221F|CCR6_uc003qvn.4_Silent_p.F221F|CCR6_uc003qvm.4_Silent_p.F221F	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	221					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AGCTACTCTTTGGTTTCTTTA	0.458000														94			13		0	0	0.002450	0	0
TIMM17A	10440	broad.mit.edu	37	1	201924657	201924657	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:201924657G>A	uc001gxc.3	+	0	39	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006335	NP_006326	Q99595	TI17A_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 17 homolog A (yeast) (TIMM17A), nuclear gene encoding mitochondrial protein, mRNA.	1					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						GAGTCAAGATGGAGGAGTACG	0.617000														53			16		0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152499762	152499762	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:152499762G>A	uc021vrb.1	-	55	8091	c.8062C>T	c.(8062-8064)Cat>Tat	p.H2688Y	NEB_uc002txu.3_Missense_Mutation_p.H2688Y|NEB_uc021vrc.1_Missense_Mutation_p.H2688Y|NEB_uc010fnx.3_Missense_Mutation_p.H2688Y|NEB_uc021vrd.1_Missense_Mutation_p.H2688Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2688					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)		CGGTAAACATGGTCACTCAAA	0.418000														109			21		0	0	0.012319	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504997	70504997	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:70504997C>T	uc011caq.2	-	2	1081	c.965G>A	c.(964-966)gGa>gAa	p.G322E	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.G121E|UGT2A1_uc021xox.1_Missense_Mutation_p.G121E|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	112					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAAGTTTTCCTAGTTCTTT	0.363000														63			18		0	0	0.006122	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834560	101834560	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:101834560C>T	uc001pgm.3	+	5	3064	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	KIAA1377_uc001pgn.3_Missense_Mutation_p.P888S|KIAA1377_uc010run.2_Missense_Mutation_p.P733S|KIAA1377_uc009yxa.1_Missense_Mutation_p.P733S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	932							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGAATCAGTTCCCTTATGGAA	0.378000														78			17		0	0	0.007413	0	0
UBXN7	26043	broad.mit.edu	37	3	196083650	196083650	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:196083650G>A	uc003fwm.4	-	10	1451	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	UBXN7_uc003fwn.4_Missense_Mutation_p.P311L|UBXN7_uc010iae.3_Missense_Mutation_p.P297L	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	459	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTTCCTTCGAGGAAAGTTGGT	0.393000														32			9		0	0	0.004482	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604424	13604424	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:13604424G>A	uc003gmz.1	-	9	4217	c.4100C>T	c.(4099-4101)cCa>cTa	p.P1367L	BOD1L1_uc010idr.1_Missense_Mutation_p.P704L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1367							DNA binding										GTGAGCTTCTGGAATGTGTCT	0.413000														82			19		0	0	0.008871	0	0
ABCB11	8647	broad.mit.edu	37	2	169791708	169791708	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:169791708G>A	uc002ueo.1	-	22	3168	c.3042C>T	c.(3040-3042)ttC>ttT	p.F1014F	ABCB11_uc010zda.1_Silent_p.F456F|ABCB11_uc010zdb.1_Silent_p.F490F	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1014	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ACACATAGCTGAAATGGAGCC	0.438000														97			23		0	0	0.016522	0	0
AP1G2	8906	broad.mit.edu	37	14	24030569	24030569	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:24030569C>T	uc001wkl.2	-	18	2266	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	AP1G2_uc001wkk.3_Silent_p.L571L|AP1G2_uc001wkn.2_Silent_p.L262L|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	643					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGAGGGGTCCAGATGGGGAG	0.597000														62			15		0	0	0.004990	0	0
KCTD1	284252	broad.mit.edu	37	18	24081143	24081143	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:24081143G>A	uc010xbj.2	-	1	1881	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	KCTD1_uc002kvw.3_Silent_p.I19I|KCTD1_uc010xbk.2_Silent_p.I19I	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	19					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CTGGAGTAGGGATGCCTTGGT	0.512000														106			22		0	0	0.014323	0	0
TPCN2	219931	broad.mit.edu	37	11	68855350	68855350	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:68855350C>T	uc001oos.2	+	24	2304	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	TPCN2_uc010rqg.1_Silent_p.L548L|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	730					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CAGGGATATTCTGGAGGAGCC	0.622000														30			5		0	0	0.014758	0	0
NEK11	79858	broad.mit.edu	37	3	130947510	130947510	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:130947510C>T	uc003eny.3	+	14	1864	c.1538C>T	c.(1537-1539)cCt>cTt	p.P513L	NEK11_uc003eoa.3_Missense_Mutation_p.P513L|NEK11_uc003enz.3_Missense_Mutation_p.P331L|NEK11_uc011blk.2_Missense_Mutation_p.P329L|NEK11_uc011bll.2_Missense_Mutation_p.P408L	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	513					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGATCCCAGCCTGCTTACAGA	0.448000														43			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179591999	179591999	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179591999C>T	uc021vsy.1	-	65	16586	c.16361G>A	c.(16360-16362)aGa>aAa	p.R5454K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2115K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6381	Ig-like 35.						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)			CCACACAACTCTGATTTCTGG	0.418000														26			5		0	0	0.014758	0	0
GPR115	221393	broad.mit.edu	37	6	47682046	47682046	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:47682046G>A	uc003oyz.1	+	6	1236	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	GPR115_uc003oza.1_Silent_p.K355K|GPR115_uc003ozb.1_Silent_p.K355K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	355					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCACTCCAAGAAAAGGAGAT	0.453000														73			11		0	0	0.008291	0	0
PXDNL	137902	broad.mit.edu	37	8	52320904	52320904	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:52320904C>T	uc003xqu.4	-	16	3381	c.3280G>A	c.(3280-3282)Gaa>Aaa	p.E1094K	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1094					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATCCCACCTTCCTTGATTATT	0.532000														60			13		0	0	0.002450	0	0
TP63	8626	broad.mit.edu	37	3	189608638	189608638	+	Silent	SNP	C	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:189608638C>A	uc003fry.2	+	12	1802	c.1713C>A	c.(1711-1713)acC>acA	p.T571T	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T477T|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T392T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	571	SAM.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T571T(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGGGGCTGACCACCATCTATC	0.438000										HNSCC(45;0.13)				65			4		0.00909568	0.00924832	0.009096	1	0
NFRKB	4798	broad.mit.edu	37	11	129748408	129748408	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:129748408G>A	uc001qfg.3	-	11	1611	c.1490C>T	c.(1489-1491)gCt>gTt	p.A497V	NFRKB_uc001qfi.3_Missense_Mutation_p.A472V|NFRKB_uc001qfh.3_Missense_Mutation_p.A495V|NFRKB_uc010sbw.1_Missense_Mutation_p.A484V	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	472					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAAGAGGGCAGCTAATTCCTT	0.383000														153			33		0	0	0.009718	0	0
ZNF479	90827	broad.mit.edu	37	7	57193746	57193746	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:57193746C>T	uc010kzo.3	-	3	512	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCTACCATCTCATTTCTCTTT	0.413000														83			38		0	0	0.013114	0	0
PAK7	57144	broad.mit.edu	37	20	9538273	9538273	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:9538273G>A	uc002wnl.2	-	7	2270	c.1725C>T	c.(1723-1725)ctC>ctT	p.L575L	PAK7_uc002wnk.2_Silent_p.L575L|PAK7_uc002wnj.2_Silent_p.L575L|PAK7_uc010gby.1_Silent_p.L575L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	575	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CGCTTGTCAGGAGGATGGAGT	0.448000														45			12		0	0	0.002450	0	0
SOGA3	387104	broad.mit.edu	37	6	127797362	127797362	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:127797362C>T	uc003qbd.3	-	5	2674	c.1809G>A	c.(1807-1809)agG>agA	p.R603R	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	603						integral to membrane											CGACGATTTTCCTGCCCAGGA	0.607000														191			37		0	0	0.010771	0	0
USP2	9099	broad.mit.edu	37	11	119243981	119243981	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:119243981G>A	uc001pwm.4	-	1	505	c.210C>T	c.(208-210)tcC>tcT	p.S70S	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	70	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGTCCAGGAGGGAGGAGGGGC	0.637000														115			21		0	0	0.014323	0	0
SHMT2	6472	broad.mit.edu	37	12	57628077	57628078	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:57628077_57628078CC>TT	uc001snf.2	+	11	1654_1655	c.1448_1449CC>TT	c.(1447-1449)gcc>gTT	p.A483V	SHMT2_uc001snh.2_Missense_Mutation_p.A485V|SHMT2_uc009zpk.2_Missense_Mutation_p.A473V|SHMT2_uc001sng.2_Missense_Mutation_p.A379V|SHMT2_uc001sni.2_Missense_Mutation_p.A462V|SHMT2_uc010srg.2_Missense_Mutation_p.A492V|SHMT2_uc010srh.2_Missense_Mutation_p.A462V|SHMT2_uc001snj.2_Missense_Mutation_p.A387V|SHMT2_uc010sri.2_Missense_Mutation_p.A462V|SHMT2_uc001snk.2_Missense_Mutation_p.A387V|SHMT2_uc010srj.2_Missense_Mutation_p.A138V	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	483						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGCGTCTGGCCAACCTCAGGC	0.530000														105			17		0	0	0.004672	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482265	233482265	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:233482265G>A	uc001hvt.4	+	1	1144	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIAA1804_uc001hvs.1_Missense_Mutation_p.E295K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	295	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GTTGGCGAGGGAATGGCACAG	0.433000														30			6		0	0	0.001168	0	0
MARCH10	162333	broad.mit.edu	37	17	60814083	60814083	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:60814083C>T	uc010dds.3	-	6	1545	c.1260G>A	c.(1258-1260)agG>agA	p.R420R	MARCH10_uc010ddr.3_Silent_p.R382R|MARCH10_uc002jag.4_Silent_p.R382R|MARCH10_uc002jah.2_Silent_p.R381R|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	382							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TAGCAGATTCCCTATCAGGCA	0.537000														78			24		0	0	0.003330	0	0
OSBPL3	26031	broad.mit.edu	37	7	24902884	24902884	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:24902884C>T	uc003sxf.3	-	8	1210	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Intron|OSBPL3_uc003sxg.3_Missense_Mutation_p.E269K|OSBPL3_uc003sxh.3_Intron|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Missense_Mutation_p.E34K|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	269					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GATCTTTTTTCCTTTTTGGGA	0.448000														73			14		0	0	0.004007	0	0
ITGB3	3690	broad.mit.edu	37	17	45377887	45377887	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:45377887G>A	uc002ilj.3	+	11	1977	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	653				GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380).	activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	AGCCCTACATGACGAAAATAC	0.473000														31			6		0	0	0.008291	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6425508	6425508	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:6425508G>A	uc001qnr.3	+	6	842	c.694G>A	c.(694-696)Gag>Aag	p.E232K	PLEKHG6_uc001qns.3_Missense_Mutation_p.E232K|PLEKHG6_uc010sew.2_Missense_Mutation_p.E232K|PLEKHG6_uc010sex.2_Missense_Mutation_p.E200K	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	232	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCCACCCTGGAGGAGACTCG	0.627000														7			3		0	0	0.004672	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881099	94881099	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:94881099G>A	uc003unp.3	+	9	2638	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.E808K|PPP1R9A_uc011kif.2_Missense_Mutation_p.E786K|PPP1R9A_uc003unq.3_Missense_Mutation_p.E786K|PPP1R9A_uc011kig.2_Missense_Mutation_p.E786K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	786	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAAAAGACAGGAAGCAGAAAG	0.338000										HNSCC(28;0.073)				26			11		0	0	0.013537	0	0
SCPEP1	59342	broad.mit.edu	37	17	55078337	55078337	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:55078337C>T	uc002iuv.4	+	10	1169	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Silent_p.L322L	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	372					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGCTGGATCTCATCGTAGATA	0.498000														95			17		0	0	0.010504	0	0
TELO2	9894	broad.mit.edu	37	16	1551694	1551694	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:1551694C>T	uc002cly.3	+	10	1683	c.1392C>T	c.(1390-1392)ccC>ccT	p.P464P		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	464						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGGCAGAGCCCCCTGCAGAGA	0.627000														70			11		0	0	0.002450	0	0
DNAH17	8632	broad.mit.edu	37	17	76525692	76525692	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:76525692C>T	uc010dhp.2	-	21	3494	c.3369G>A	c.(3367-3369)gtG>gtA	p.V1123V		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCATCACCTCCACAAGCCCAT	0.562000														84			17		0	0	0.004990	0	0
FLRT2	23768	broad.mit.edu	37	14	86089039	86089039	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:86089039G>A	uc021rxf.1	+	0	1181	c.1181G>A	c.(1180-1182)aGc>aAc	p.S394N	FLRT2_uc001xvr.3_Missense_Mutation_p.S394N|FLRT2_uc010atd.3_Missense_Mutation_p.S394N	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	394					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCTAGCAGAAGCTACACGCCT	0.577000														54			18		0	0	0.004990	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917969	65917969	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:65917969C>T	uc010ujf.2	+	1	1838	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	SLC24A1_uc010ujd.1_Silent_p.F517F|SLC24A1_uc010uje.1_Silent_p.F517F|SLC24A1_uc010ujg.2_Silent_p.F517F|SLC24A1_uc010ujh.2_Silent_p.F517F	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	517					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCGGTGTCTTCATTTCCCACA	0.542000														77			17		0	0	0.006122	0	0
MUC16	94025	broad.mit.edu	37	19	9085376	9085376	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9085376G>A	uc002mkp.3	-	0	6643	c.6439C>T	c.(6439-6441)Cca>Tca	p.P2147S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2147	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L2146V(1)		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						ATGGCCATTGGAAGAGGGACT	0.493000														56			17		0	0	0.006122	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439612	145439612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:145439612C>T	uc003lnt.3	+	8	1977	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	SH3RF2_uc011dbl.1_Missense_Mutation_p.P580L|SH3RF2_uc011dbm.1_Missense_Mutation_p.P65L|SH3RF2_uc003lnu.3_Missense_Mutation_p.P71L|SH3RF2_uc011dbn.1_Missense_Mutation_p.P71L|SH3RF2_uc011dbo.2_Missense_Mutation_p.P37L	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	580							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGGGGAGCCCGCCCTCACG	0.632000														39			8		0	0	0.004482	0	0
NWD1	284434	broad.mit.edu	37	19	16918857	16918858	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:16918857_16918858GG>AA	uc002neu.4	+	17	4619_4620	c.4197_4198GG>AA	c.(4195-4200)aaggag>aaAAag	p.E1400K	NWD1_uc002net.4_Missense_Mutation_p.E1265K|NWD1_uc002nev.4_Missense_Mutation_p.E1194K|NWD1_uc021uqg.1_Missense_Mutation_p.E1265K	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1400							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGCCACAAGGAGCAGCTGGT	0.584000														100			12		0	0	0.004672	0	0
FAM55C	91775	broad.mit.edu	37	3	101520777	101520777	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:101520777C>T	uc003dvn.3	+	4	1429	c.792C>T	c.(790-792)ttC>ttT	p.F264F	FAM55C_uc010hpn.3_Silent_p.F264F	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	264						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						TTACCCATTTCAAAGGTGGAT	0.473000														93			13		0	0	0.003163	0	0
C2orf80	389073	broad.mit.edu	37	2	209051686	209051686	+	Missense_Mutation	SNP	C	T	T	rs138681111		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:209051686C>T	uc002vcr.3	-	1	197	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	9								p.E9K(2)		endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TTTTTCATTTCCTTCTTTATG	0.423000														29			8		0	0	0.003080	0	0
ZNF282	8427	broad.mit.edu	37	7	148892733	148892733	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:148892733C>T	uc003wfm.3	+	0	157	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	ZNF282_uc011kun.1_Silent_p.L18L|ZNF282_uc003wfn.3_5'Flank|ZNF282_uc003wfo.3_5'Flank	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	18					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CATCCAGGGCCTGGGGCTGGA	0.687000														27			7		0	0	0.003080	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146450	70146450	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:70146450C>T	uc003hej.3	+	0	234	c.232C>T	c.(232-234)Cct>Tct	p.P78S	UGT2B28_uc010ihr.3_Missense_Mutation_p.P78S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	78					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CGAAGTTTATCCTACATCTTT	0.363000														46			16		0	0	0.003163	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626927	108626927	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:108626927G>A	uc002tdv.3	+	8	1629	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	SLC5A7_uc010ywm.2_Silent_p.E204E|SLC5A7_uc010fjj.3_Silent_p.E451E|SLC5A7_uc010ywn.2_Silent_p.E338E	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	451					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGGAGGGGAGCCATATCTGT	0.448000														58			11		0	0	0.010729	0	0
AFF3	3899	broad.mit.edu	37	2	100209733	100209733	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:100209733G>A	uc002taf.3	-	13	2609	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	AFF3_uc002tag.3_Missense_Mutation_p.S797F|AFF3_uc010fiq.1_Missense_Mutation_p.S797F|AFF3_uc010yvr.1_Missense_Mutation_p.S950F|AFF3_uc002tah.1_Missense_Mutation_p.S822F	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	797					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D821N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCTCAGAGTCCTTGGT	0.607000														62			17		0	0	0.006122	0	0
IQUB	154865	broad.mit.edu	37	7	123150072	123150072	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:123150072G>A	uc003vkn.3	-	2	992	c.415C>T	c.(415-417)Cca>Tca	p.P139S	IQUB_uc003vko.3_Missense_Mutation_p.P139S|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.P139S|IQUB_uc003vkq.2_Missense_Mutation_p.P139S	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	139	Ubiquitin-like.									breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGGCCCACTGGAATAAGTACA	0.313000														147			16		0	0	0.004990	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237634	30237634	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:30237634G>A	uc022buf.1	+	0	937	c.937G>A	c.(937-939)Gat>Aat	p.D313N	MAGEB2_uc004dbz.3_Missense_Mutation_p.D313N	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	313							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCTTTGAAAGATGAAGAGAA	0.488000														14			13		0	0	0.001855	0	0
CDH5	1003	broad.mit.edu	37	16	66436825	66436825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:66436825G>A	uc002eom.4	+	11	2264	c.2108G>A	c.(2107-2109)gGg>gAg	p.G703E		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	703					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGAGGGCCCGGGGAGATGGCA	0.721000														29			17		0	0	0.010504	0	0
ALDOB	229	broad.mit.edu	37	9	104190787	104190787	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:104190787G>A	uc004bbk.2	-	3	425	c.343C>T	c.(343-345)Cct>Tct	p.P115S		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	115					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CCTGCAAGAGGAGCACCTCCT	0.403000														80			23		0	0	0.003330	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24259525	24259525	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:24259525C>T	uc003xdz.2	+	11	1460	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P335S|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P335S	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	414					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.I413V(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGCACCTATTCCTACAAATAT	0.393000														50			5		0	0	0.014758	0	0
CACNB2	783	broad.mit.edu	37	10	18823025	18823025	+	Missense_Mutation	SNP	G	A	A	rs112164873		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:18823025G>A	uc001ipr.2	+	10	1135	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	CACNB2_uc001ipt.2_Missense_Mutation_p.E321K|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.E335K|CACNB2_uc001ipu.3_Missense_Mutation_p.E331K|CACNB2_uc001ipv.3_Missense_Mutation_p.E307K|CACNB2_uc009xka.2_Missense_Mutation_p.E293K|CACNB2_uc001ipw.2_Missense_Mutation_p.E266K|CACNB2_uc001ipx.2_Missense_Mutation_p.E304K|CACNB2_uc001ipz.2_Missense_Mutation_p.E281K|CACNB2_uc001ipy.2_Missense_Mutation_p.E305K|CACNB2_uc010qco.1_Missense_Mutation_p.E273K|CACNB2_uc001iqa.2_Missense_Mutation_p.E311K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	359					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAGTGAAATCGAAAGGATTTT	0.383000														42			9		0	0	0.010729	0	0
KIAA0430	9665	broad.mit.edu	37	16	15729671	15729671	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:15729671G>A	uc002ddr.3	-	2	880	c.673C>T	c.(673-675)Ccc>Tcc	p.P225S	KIAA0430_uc002ddq.3_Missense_Mutation_p.P224S|KIAA0430_uc010uzv.2_Missense_Mutation_p.P225S|KIAA0430_uc010uzw.2_Missense_Mutation_p.P225S|KIAA0430_uc010uzx.2_Missense_Mutation_p.P224S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	224						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCAGAACAGGGGAAATAGCCA	0.522000														67			9		0	0	0.006214	0	0
FAT4	79633	broad.mit.edu	37	4	126371291	126371291	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:126371291G>A	uc003ifj.4	+	8	9120	c.9120G>A	c.(9118-9120)tgG>tgA	p.W3040*	FAT4_uc011cgp.2_Nonsense_Mutation_p.W1338*|FAT4_uc003ifi.1_Nonsense_Mutation_p.W518*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3040	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATACGGGGTGGATTTCAGTAG	0.373000														37			7		0	0	0.003080	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42275002	42275002	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:42275002A>G	uc002iga.3	-	1	239	c.148T>C	c.(148-150)Ttg>Ctg	p.L50L	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Silent_p.L50L	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	50					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGTCGTCCAAGAAGAAGTAG	0.547000														118			20		0	0	0.012319	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														11			6		0	0	0.001984	0	0
IGFN1	91156	broad.mit.edu	37	1	201182705	201182705	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:201182705C>T	uc001gwc.3	+	11	8814	c.8684C>T	c.(8683-8685)tCc>tTc	p.S2895F	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTTCCACATCCAGATACAAG	0.587000														54			8		0	0	0.004482	0	0
GP2	2813	broad.mit.edu	37	16	20335417	20335417	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:20335417C>T	uc002dgv.3	-	2	339	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GP2_uc002dgw.3_Missense_Mutation_p.D86N|GP2_uc002dgx.3_Intron|GP2_uc002dgy.3_Intron	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	86						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGTTTTTATCGCACCCCTGG	0.562000														63			16		0	0	0.007413	0	0
MST1P9	11223	broad.mit.edu	37	1	17085457	17085457	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:17085457C>T	uc010ock.2	-	9	1234	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGAGCAAAATCGTGGCAGGGT	0.617000														99			6		0	0	0.003080	0	0
TPRA1	131601	broad.mit.edu	37	3	127292431	127292431	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:127292431G>A	uc003ejn.2	-	10	1388	c.1055C>T	c.(1054-1056)tCc>tTc	p.S352F	TPRA1_uc003ejl.2_Missense_Mutation_p.S352F|TPRA1_uc010hsk.2_3'UTR|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	352					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						GCAGGGCATGGAAGCGATGTC	0.662000														67			13		0	0	0.003163	0	0
SPTA1	6708	broad.mit.edu	37	1	158632546	158632546	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:158632546C>T	uc001fst.1	-	16	2609	c.2410G>A	c.(2410-2412)Gat>Aat	p.D804N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	804					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCTCCTCATCCTCTGTGTCT	0.517000														64			9		0	0	0.010729	0	0
OR10S1	219873	broad.mit.edu	37	11	123847965	123847965	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:123847965T>G	uc001pzm.1	-	0	434	c.434A>C	c.(433-435)cAc>cCc	p.H145P		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		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;0.0399)		CACTGGGTAGTGCAGGGGTTG	0.547000														41			8		0	0	0.003080	0	0
FCN3	8547	broad.mit.edu	37	1	27697178	27697178	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:27697178G>A	uc001boa.3	-	6	573	c.567C>T	c.(565-567)aaC>aaT	p.N189N	FCN3_uc001bob.3_Silent_p.N178N	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	189	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGAAAGTACGGTTACCATTAA	0.582000														135			26		0	0	0.006320	0	0
PRSS55	203074	broad.mit.edu	37	8	10390447	10390447	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:10390447G>A	uc003wta.3	+	3	670	c.630G>A	c.(628-630)atG>atA	p.M210I	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.M210I|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	210	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CGGATCTGATGAAAGCGCCAA	0.478000														58			16		0	0	0.006122	0	0
ATP13A4	84239	broad.mit.edu	37	3	193180552	193180552	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:193180552C>T	uc003ftd.3	-	13	1631	c.1523_splice	c.e13+1	p.G508_splice	ATP13A4_uc003fte.1_Splice_Site_p.G508_splice|ATP13A4_uc011bsr.1_Splice_Site|ATP13A4_uc010hzi.3_Splice_Site|ATP13A4_uc003ftf.4_Splice_Site_p.G214_splice	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	508					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGTACTCACCCATTCCTATCA	0.428000														59			8		0	0	0.008291	0	0
MCM8	84515	broad.mit.edu	37	20	5963670	5963670	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:5963670T>G	uc002wmk.3	+	13	2089	c.1712T>G	c.(1711-1713)tTg>tGg	p.L571W	MCM8_uc002wmi.3_Missense_Mutation_p.L531W|MCM8_uc002wmj.3_Missense_Mutation_p.L515W|MCM8_uc002wml.3_Missense_Mutation_p.L531W|MCM8_uc010gbp.3_Missense_Mutation_p.L484W|MCM8_uc002wmm.3_Missense_Mutation_p.L69W	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	531	MCM.				DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CAAGCCTTGTTGGAAGCCATG	0.398000														46			7		0	0	0.004482	0	0
GPR61	83873	broad.mit.edu	37	1	110086967	110086967	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:110086967C>T	uc021orh.1	+	0	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	GPR61_uc001dxy.2_Silent_p.L441L	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	441						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGCTACCTCCGTCCTGCCG	0.587000														21			6		0	0	0.004482	0	0
DDRGK1	65992	broad.mit.edu	37	20	3171860	3171860	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:3171860G>A	uc002wic.3	-	7	776	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	Homo sapiens DDRGK domain containing 1 (DDRGK1), mRNA.	252	PCI.					endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						TCAGCCAGCAGGTCCTGGATG	0.527000														60			14		0	0	0.004990	0	0
DPRX	503834	broad.mit.edu	37	19	54140182	54140182	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:54140182C>T	uc002qcf.1	+	2	567	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	172						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)		CCCAAGTTTGCGCTCCAAGCT	0.443000														99			27		0	0	0.007291	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399628	47399628	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:47399628G>A	uc001cqp.4	-	8	1263	c.1212C>T	c.(1210-1212)tcC>tcT	p.S404S	CYP4A11_uc001cqq.2_Silent_p.S404S|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	404					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTTTGGGCAAGGAGCGCCCAT	0.562000														44			8		0	0	0.006214	0	0
KRT34	3885	broad.mit.edu	37	17	39535632	39535632	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:39535632C>T	uc002hwm.3	-	4	987	c.975G>A	c.(973-975)gaG>gaA	p.E325E		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	325	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTCGATCTCCAGGGCGT	0.607000														67			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9065721	9065721	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9065721G>A	uc002mkp.3	-	2	21929	c.21725C>T	c.(21724-21726)tCc>tTc	p.S7242F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7244	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						GCTCAGGGAGGAAATTGACTC	0.468000														143			29		0	0	0.009535	0	0
XKR4	114786	broad.mit.edu	37	8	56436718	56436718	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:56436718C>T	uc003xsf.3	+	2	1917	c.1885C>T	c.(1885-1887)Cct>Tct	p.P629S		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	629						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTCCCCATCTCCTCCAAGGCT	0.453000														46			12		0	0	0.001855	0	0
DHRS7C	201140	broad.mit.edu	37	17	9684798	9684798	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:9684798C>T	uc010vvb.2	-	2	280	c.267_splice	c.e2+1	p.K89_splice	DHRS7C_uc010cof.3_Splice_Site_p.K89_splice	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	89						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GAAGACCTTACCTTGCTGGGG	0.542000														31			8		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106780818	106780818	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:106780818C>T	uc021ser.1	-	656		c.17878_splice	c.e656-1							Parts of antibodies, mostly variable regions.																		GACAGGACCACTGTGAACAGA	0.607000														34			19		0	0	0.008871	0	0
FAT3	120114	broad.mit.edu	37	11	92086457	92086457	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:92086457C>T	uc001pdj.4	+	0	1196	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	393	Cadherin 4.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V393V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTCCTGGTGTCGTGGTTGCTA	0.423000										TCGA Ovarian(4;0.039)				450			94		0	0	0.014410	0	0
REXO1	57455	broad.mit.edu	37	19	1823627	1823627	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:1823627G>A	uc002lua.4	-	3	2269	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	REXO1_uc010dsq.3_5'Flank|REXO1_uc010xgs.1_5'Flank|LOC100288123_uc002lub.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	725						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGGGGCGGAAATGTGGAC	0.716000														15			6		0	0	0.001984	0	0
ACACB	32	broad.mit.edu	37	12	109677704	109677704	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:109677704G>A	uc001tob.3	+	34	4851	c.4732G>A	c.(4732-4734)Gtg>Atg	p.V1578M	ACACB_uc001toc.3_Missense_Mutation_p.V1578M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V244M	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1578					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGAGCTGGAGGTGGCGTTCAA	0.592000														34			7		0	0	0.001984	0	0
LRP6	4040	broad.mit.edu	37	12	12279643	12279643	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:12279643A>C	uc001rah.4	-	19	4436	c.4294T>G	c.(4294-4296)Ttg>Gtg	p.L1432V	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L1387V	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1432					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GATCCTGACAAAGAACTTGGG	0.458000														216			37		0	0	0.006230	0	0
CPM	1368	broad.mit.edu	37	12	69265610	69265610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:69265610C>T	uc001sup.3	-	3	446	c.385G>A	c.(385-387)Gga>Aga	p.G129R	CPM_uc001sur.3_Missense_Mutation_p.G129R|CPM_uc001suq.3_Missense_Mutation_p.G129R	NM_198320	NP_938079	P14384	CBPM_HUMAN	Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA.	129					anatomical structure morphogenesis|proteolysis	anchored to membrane|cytoplasm|nucleus|plasma membrane	metallocarboxypeptidase activity|zinc ion binding	p.D128Y(1)		large_intestine(1)|lung(6)|prostate(2)	9	all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06)		all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTTCAAATCCATCTGGGTTC	0.438000														110			19		0	0	0.012319	0	0
CDYL2	124359	broad.mit.edu	37	16	80654830	80654830	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:80654830G>A	uc002ffs.3	-	3	942	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	279						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTTCTTTCATGATCTGCCGGC	0.582000														11			3		0	0	0.009096	0	0
POLR2A	5430	broad.mit.edu	37	17	7400791	7400791	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:7400791C>T	uc002ghf.4	+	5	1322	c.936C>T	c.(934-936)ttC>ttT	p.F312F	POLR2A_uc002ghe.3_Silent_p.F312F	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	312					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCCTCCAGTTCCATGTGGCCA	0.592000														55			11		0	0	0.002450	0	0
TC2N	123036	broad.mit.edu	37	14	92264212	92264212	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:92264212C>T	uc001xzu.4	-	7	963	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TC2N_uc001xzt.4_Missense_Mutation_p.D258N|TC2N_uc010auc.3_Missense_Mutation_p.D258N|TC2N_uc001xzv.4_Missense_Mutation_p.D258N	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	258						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTAGGAGTGTCTCCATAACTA	0.343000														57			13		0	0	0.001855	0	0
SETD1A	9739	broad.mit.edu	37	16	30991855	30991855	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:30991855C>T	uc002ead.1	+	14	5144	c.4458C>T	c.(4456-4458)ccC>ccT	p.P1486P		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	1486	Interaction with ASH2L, RBBP5 and WDR5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGATGGGCCCCGGGAGCACC	0.642000														108			19		0	0	0.012319	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														25			4		0	0	0.009096	0	0
SACS	26278	broad.mit.edu	37	13	23913856	23913856	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:23913856G>A	uc001uon.2	-	9	4748	c.4159C>T	c.(4159-4161)Cct>Tct	p.P1387S	SACS_uc001uoo.2_Missense_Mutation_p.P1240S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1387					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGTTTAGAAGGATTTTTGCTA	0.353000														50			12		0	0	0.013537	0	0
ZIC4	84107	broad.mit.edu	37	3	147113803	147113803	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:147113803C>A	uc011bno.2	-	2	860	c.674G>T	c.(673-675)tGg>tTg	p.W225L	ZIC4_uc003ewc.2_Missense_Mutation_p.W105L|ZIC4_uc021xff.1_Missense_Mutation_p.W213L|ZIC4_uc003ewd.2_Missense_Mutation_p.W175L|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	175						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACACTCCTCCCAGAAGCAAAT	0.577000														210			10		1.76689e-08	1.81085e-08	0.006214	1	0
SP110	3431	broad.mit.edu	37	2	231067390	231067390	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:231067390A>G	uc002vqg.3	-	8	1193	c.953T>C	c.(952-954)gTt>gCt	p.V318A	SP110_uc002vqh.3_Missense_Mutation_p.V318A|SP110_uc002vqi.4_Missense_Mutation_p.V318A|SP110_uc010fxk.3_Missense_Mutation_p.V316A|SP110_uc021vxx.1_Missense_Mutation_p.V324A|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	318					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTTTTGAGGAACCTGATCCAC	0.453000														111			18		0	0	0.012319	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183040	147183040	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:147183040C>T	uc003weu.2	+	10	2200	c.1684C>T	c.(1684-1686)Cac>Tac	p.H562Y	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	562	EGF-like 1.				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)			TGTGCCCAATCACTGTGAGCA	0.458000										HNSCC(39;0.1)				104			41		0	0	0.009718	0	0
HM13	81502	broad.mit.edu	37	20	30102407	30102407	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:30102407C>T	uc002wwc.3	+	0	167	c.53C>T	c.(52-54)cCc>cTc	p.P18L	HM13_uc002wwd.3_Missense_Mutation_p.P18L|HM13_uc002wwe.3_Missense_Mutation_p.P18L|HM13_uc002wwb.1_Missense_Mutation_p.P18L	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	18					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GCAGGCGGCCCCACCAACAGC	0.697000														19			7		0	0	0.003080	0	0
NUAK2	81788	broad.mit.edu	37	1	205273440	205273440	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:205273440G>A	uc001hce.3	-	6	1152	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	342					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTCCAGGAGGGGGCGGGAGGA	0.672000														25			8		0	0	0.006214	0	0
LYZL4	131375	broad.mit.edu	37	3	42448470	42448470	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:42448470C>T	uc003cle.3	-	2	409	c.160G>A	c.(160-162)Gag>Aag	p.E54K		NM_144634	NP_653235	Q96KX0	LYZL4_HUMAN	Homo sapiens lysozyme-like 4 (LYZL4), mRNA.	54					cell wall macromolecule catabolic process	extracellular region	lysozyme activity	p.E54K(2)		central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AACTTGCTCTCGAAGTAGGCC	0.572000														29			6		0	0	0.001984	0	0
KRT3	3850	broad.mit.edu	37	12	53189556	53189556	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:53189556C>T	uc001say.3	-	0	337	c.271G>A	c.(271-273)Ggt>Agt	p.G91S		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	91	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccatagccacctgcaaagGCA	0.637000														80			14		0	0	0.001855	0	0
BRS3	680	broad.mit.edu	37	X	135572395	135572395	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:135572395C>T	uc004ezv.1	+	1	687	c.538C>T	c.(538-540)Cta>Tta	p.L180L		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	180					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GATATTTGCTCTACCTGAGGC	0.418000														34			15		0	0	0.003163	0	0
DNAH5	1767	broad.mit.edu	37	5	13931219	13931219	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:13931219C>T	uc003jfd.2	-	2	234	c.192_splice	c.e2+1	p.Q64_splice	DNAH5_uc003jfe.1_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	64	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCATCCCACCTGATTCCCTT	0.502000									Kartagener syndrome					54			5		0	0	0.001984	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596509	24596509	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:24596509C>T	uc011djo.2	-	2	893	c.393G>A	c.(391-393)ggG>ggA	p.G131G	KIAA0319_uc011djp.2_Silent_p.G86G|KIAA0319_uc003neh.1_Silent_p.G131G|KIAA0319_uc011djq.1_Silent_p.G122G|KIAA0319_uc011djr.1_Silent_p.G131G	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	131					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						CAGGTGAGTCCCCCCAGATCC	0.552000														65			6		0	0	0.001984	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057858	63057858	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:63057858G>A	uc009yor.3	+	0	429	c.221G>A	c.(220-222)aGa>aAa	p.R74K	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.R22K	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	74						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCCTCTTGAGAATCTCTATC	0.502000														79			9		0	0	0.006214	0	0
HIVEP2	3097	broad.mit.edu	37	6	143089611	143089611	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:143089611G>A	uc003qjd.3	-	5	5993	c.5250C>T	c.(5248-5250)atC>atT	p.I1750I		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTCCTTTAAGATATTTCCCA	0.363000														86			12		0	0	0.013537	0	0
JAG1	182	broad.mit.edu	37	20	10625626	10625626	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:10625626G>A	uc002wnw.2	-	18	2744	c.2228_splice	c.e18-1	p.A743_splice	JAG1_uc010gcd.1_Splice_Site_p.A301_splice	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	743					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TACTGTTTCGGGCTATAAAAG	0.567000									Alagille Syndrome					195			39		0	0	0.010771	0	0
OR1F1	4992	broad.mit.edu	37	16	3255137	3255137	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:3255137G>A	uc010uwu.2	+	0	891	c.891G>A	c.(889-891)ttG>ttA	p.L297L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACAGGTACTTGAAAGGGGCTC	0.423000														58			18		0	0	0.007413	0	0
COL6A2	1292	broad.mit.edu	37	21	47552145	47552145	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr21:47552145C>T	uc002zia.1	+	27	2821	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	913	Nonhelical region.|VWFA 3.				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)		ACCTGAACTCCTTCTCGCACG	0.672000														14			3		0	0	0.009096	0	0
RP1	6101	broad.mit.edu	37	8	55540511	55540511	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:55540511G>A	uc003xsd.1	+	3	4217	c.4069G>A	c.(4069-4071)Gat>Aat	p.D1357N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1357					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)			TGATAACTTGGATTCAACTGA	0.353000														40			7		0	0	0.006214	0	0
SGCE	8910	broad.mit.edu	37	7	94230004	94230004	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:94230004G>A	uc011kid.1	-	7	1210	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	SGCE_uc003unm.2_Missense_Mutation_p.L331F|SGCE_uc003unl.2_Missense_Mutation_p.L331F|SGCE_uc003unn.2_Missense_Mutation_p.L331F|SGCE_uc011kic.1_Missense_Mutation_p.L290F	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	331					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTAGAAAAAGGACCAGTGCC	0.418000														34			10		0	0	0.001855	0	0
COL22A1	169044	broad.mit.edu	37	8	139833595	139833595	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:139833595C>T	uc003yvd.3	-	6	1476	c.1029G>A	c.(1027-1029)atG>atA	p.M343I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	343	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGCATCTTTCATGGCACCCA	0.572000										HNSCC(7;0.00092)				132			24		0	0	0.004656	0	0
BTNL3	10917	broad.mit.edu	37	5	180424345	180424345	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:180424345C>T	uc003mmr.3	+	2	714	c.530C>T	c.(529-531)tCa>tTa	p.S177L		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	177	Ig-like V-type.				lipid metabolic process	integral to membrane		p.S176P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GATTTGTCTTCAGACTCCAGA	0.502000														28			8		0	0	0.003080	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947181	57947181	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:57947181G>A	uc021qjm.1	+	0	265	c.265G>A	c.(265-267)Ggg>Agg	p.G89R	OR9Q1_uc001nmj.3_Missense_Mutation_p.G89R	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G89V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GCTGGAGCATGGGGCAGCTTT	0.527000														79			18		0	0	0.007413	0	0
CYP4A11	1579	broad.mit.edu	37	1	47402994	47402994	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:47402994C>T	uc001cqp.4	-	2	413	c.362G>A	c.(361-363)aGa>aAa	p.R121K	CYP4A11_uc001cqq.2_Missense_Mutation_p.R121K|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	121					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	AGCCAGGAATCTGTAGGAACC	0.448000														44			6		0	0	0.004482	0	0
CMYA5	202333	broad.mit.edu	37	5	79033333	79033333	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:79033333G>A	uc003kgc.3	+	1	8817	c.8745G>A	c.(8743-8745)aaG>aaA	p.K2915K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2915						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAATGCCCAAGGAACCTGAAG	0.383000														42			8		0	0	0.004482	0	0
MAN1A2	10905	broad.mit.edu	37	1	117984892	117984892	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:117984892C>T	uc001ehd.1	+	5	1616	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	MAN1A2_uc009whg.1_Missense_Mutation_p.L89F	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	299					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAGAAACTCCTTCCTGCCTT	0.343000														65			8		0	0	0.006214	0	0
SCN1A	6323	broad.mit.edu	37	2	166896038	166896038	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:166896038G>A	uc002udo.4	-	15	2711	c.2484C>T	c.(2482-2484)ttC>ttT	p.F828F	SCN1A_uc010fpk.3_Silent_p.F800F|SCN1A_uc021vsb.1_Silent_p.F817F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	828						voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	AGCCTTCTTGGAAATAATAGT	0.373000														33			10		0	0	0.008291	0	0
OSMR	9180	broad.mit.edu	37	5	38881746	38881746	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:38881746G>A	uc003jln.2	+	3	700	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	OSMR_uc003jlm.2_Missense_Mutation_p.E100K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	100					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGGAGCTGGGAATCTGAGCT	0.458000														81			15		0	0	0.003163	0	0
MCM10	55388	broad.mit.edu	37	10	13234455	13234455	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:13234455T>C	uc001ima.3	+	12	1763	c.1635T>C	c.(1633-1635)atT>atC	p.I545I	MCM10_uc001imb.3_Silent_p.I544I|MCM10_uc001imc.3_Silent_p.I544I	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	545					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTTCAGGGATTATGGGGAGCC	0.557000														62			18		0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9070856	9070856	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9070856G>A	uc002mkp.3	-	2	16794	c.16590C>T	c.(16588-16590)tcC>tcT	p.S5530S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5532	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						GGTCTGAGATGGATGTTCTGC	0.483000														79			18		0	0	0.007413	0	0
CD163	9332	broad.mit.edu	37	12	7640083	7640083	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:7640083C>T	uc001qsz.3	-	7	2050	c.1922G>A	c.(1921-1923)gGa>gAa	p.G641E	CD163_uc001qta.3_Missense_Mutation_p.G641E|CD163_uc009zfw.2_Missense_Mutation_p.G674E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	641	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.K640E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGACCATTTCCTTTTCCAAA	0.478000														94			27		0	0	0.006320	0	0
INPP4B	8821	broad.mit.edu	37	4	143350350	143350350	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:143350350C>T	uc003iix.4	-	5	707	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	INPP4B_uc003iiw.4_Missense_Mutation_p.E38K|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc003iiz.3_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	38	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AACTGCGGTTCATTTGGAGTC	0.274000														9			3		0	0	0.009096	0	0
SHROOM3	57619	broad.mit.edu	37	4	77699981	77699981	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:77699981G>A	uc011cbx.2	+	10	6595	c.5642G>A	c.(5641-5643)aGg>aAg	p.R1881K	SHROOM3_uc003hkg.3_Missense_Mutation_p.R1659K	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1881	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACGAGAAAAGGAAGATCCTG	0.537000														41			9		0	0	0.006214	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214382	140214382	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:140214382G>A	uc003lhq.2	+	0	414	c.414G>A	c.(412-414)agG>agA	p.R138R	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_Silent_p.R138R	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	153	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R138S(2)|p.E137K(1)		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)			CGACACAAAGGAATCTGTTCA	0.567000														58			24		0	0	0.003330	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955376	18955376	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:18955376C>T	uc001mpg.3	-	0	1174	c.956G>A	c.(955-957)aGa>aAa	p.R319K		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	319					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGCTCCAATCTGCTTCCCGA	0.547000														88			10		0	0	0.010729	0	0
MYO3B	140469	broad.mit.edu	37	2	171056776	171056776	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:171056776G>A	uc002ufy.3	+	2	446	c.303G>A	c.(301-303)caG>caA	p.Q101Q	MYO3B_uc002ufv.3_Silent_p.Q88Q|MYO3B_uc010fqb.1_Silent_p.Q101Q|MYO3B_uc002ufz.3_Silent_p.Q101Q|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Silent_p.Q88Q	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	101	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAGGGGGACAGCTGTGGCTGG	0.453000														49			11		0	0	0.010729	0	0
SIM1	6492	broad.mit.edu	37	6	100841510	100841510	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:100841510C>T	uc003pqj.4	-	9	1890	c.1423G>A	c.(1423-1425)Ggc>Agc	p.G475S	SIM1_uc021zdg.1_Missense_Mutation_p.G475S|SIM1_uc010kcu.3_Missense_Mutation_p.G475S	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	475	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAGTACCTGCCTGCCTCACAT	0.637000														74			13		0	0	0.003163	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270800	97270800	+	Missense_Mutation	SNP	C	T	T	rs148966759		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:97270800C>T	uc003yhs.1	-	1	197	c.119G>A	c.(118-120)gGc>gAc	p.G40D	MTERFD1_uc003yhr.1_5'Flank|MTERFD1_uc010mbd.1_Missense_Mutation_p.G40D	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AGCAGAAAAGCCATGTAACAG	0.428000														99			18		0	0	0.006122	0	0
TACR3	6870	broad.mit.edu	37	4	104640404	104640404	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:104640404G>A	uc003hxe.1	-	0	570	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	143						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCGCGTAGATGAAATTGACCA	0.532000														33			11		0	0	0.001855	0	0
KDR	3791	broad.mit.edu	37	4	55984850	55984850	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:55984850C>T	uc003has.3	-	2	581	c.279G>A	c.(277-279)gtG>gtA	p.V93V	KDR_uc003hat.1_Silent_p.V93V|KDR_uc011bzx.2_Silent_p.V93V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	93	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTCCGATCACTTTTGGAA	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				41			14		0	0	0.003163	0	0
ODZ4	26011	broad.mit.edu	37	11	78440604	78440604	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:78440604G>A	uc001ozl.4	-	21	3686	c.3223C>T	c.(3223-3225)Ctg>Ttg	p.L1075L		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1075					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CTGATCCTCAGGACAGATTTG	0.577000														53			9		0	0	0.006214	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481129	27481130	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27481129_27481130GT>AA	uc002rjk.3	-	2	509_510	c.323_324AC>TT	c.(322-324)cac>cTT	p.H108L	SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H103L	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	108					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCAGCAAGTGGGCTGCATC	0.579000														37			10		0	0	0.004672	0	0
SCN9A	6335	broad.mit.edu	37	2	167141319	167141319	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:167141319G>A	uc010fpl.3	-	11	1959	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R411C|SCN9A_uc002uds.1_Missense_Mutation_p.R411C|SCN9A_uc002udt.1_Missense_Mutation_p.R411C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	540						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)	AAGGAGCCACGAATGCTGAGT	0.423000														16			7		0	0	0.004482	0	0
TMEM117	84216	broad.mit.edu	37	12	44781975	44781975	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:44781975C>T	uc001rod.3	+	7	1131	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	TMEM117_uc001roe.3_Silent_p.T251T|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	355						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGAACAGAACCAAGCTATCCT	0.398000														51			13		0	0	0.013537	0	0
TNXB	7148	broad.mit.edu	37	6	32012848	32012848	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:32012848C>T	uc003nzl.2	-	31	11058	c.10856G>A	c.(10855-10857)aGg>aAg	p.R3619K	TNXB_uc003nzg.1_Missense_Mutation_p.R50K|TNXB_uc003nzh.1_Missense_Mutation_p.R88K	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3666	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGGAGGAACCTGTAGGGGGT	0.647000														163			78		0	0	0.014410	0	0
SLC16A7	9194	broad.mit.edu	37	12	60168885	60168885	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:60168885C>T	uc001sqs.3	+	4	1108	c.809C>T	c.(808-810)cCa>cTa	p.P270L	SLC16A7_uc001sqt.3_Missense_Mutation_p.P270L|SLC16A7_uc001squ.3_Missense_Mutation_p.P270L|SLC16A7_uc009zqi.3_Missense_Mutation_p.P171L|SLC16A7_uc010ssi.2_Missense_Mutation_p.P171L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	270						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTCTTGGCTCCATATGCTAAA	0.373000														45			12		0	0	0.010729	0	0
COBLL1	22837	broad.mit.edu	37	2	165578729	165578729	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:165578729G>A	uc002ucp.3	-	5	1074	c.852C>T	c.(850-852)acC>acT	p.T284T	COBLL1_uc002ucq.3_Silent_p.T284T|COBLL1_uc010zcw.2_Silent_p.T350T|COBLL1_uc010zcx.2_Silent_p.T330T|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Silent_p.T53T	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	322										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CCGACGGCAGGGTGTTGGAAA	0.537000														49			8		0	0	0.003080	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949592	34949593	+	Silent	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:34949592_34949593CC>TT	uc003ojx.4	+	3	703_704	c.561_562CC>TT	c.(559-564)gacctg>gaTTtg	p.187_188DL>DL	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvr.1_Non-coding_Transcript	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	187						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCCCTTTGGACCTGGCAGCACT	0.554000														97			17		0	0	0.004672	0	0
DNHD1	144132	broad.mit.edu	37	11	6519800	6519800	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:6519800C>T	uc001mdw.4	+	2	919	c.355C>T	c.(355-357)Caa>Taa	p.Q119*	DNHD1_uc001mdp.3_Nonsense_Mutation_p.Q119*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	119					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCTGGGTCCAAACCCACCT	0.562000														136			18		0	0	0.006122	0	0
FLG	2312	broad.mit.edu	37	1	152279804	152279804	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:152279804C>T	uc001ezu.1	-	2	7594	c.7558G>A	c.(7558-7560)Gat>Aat	p.D2520N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2520	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)			GATTGTTCATCGTTACGAGTT	0.587000									Ichthyosis					289			82		0	0	0.014410	0	0
TANC2	26115	broad.mit.edu	37	17	61498822	61498822	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:61498822T>A	uc002jal.4	+	24	5502	c.5479T>A	c.(5479-5481)Tct>Act	p.S1827T	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.S938T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1827							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GTCGCCAGTGTCTCCAACTCA	0.537000														26			3		0	0	0.004672	0	0
SLIT3	6586	broad.mit.edu	37	5	168199885	168199885	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:168199885C>T	uc010jjg.3	-	13	1780	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	SLIT3_uc003mab.3_Missense_Mutation_p.D454N|SLIT3_uc010jji.2_Missense_Mutation_p.D454N|SLIT3_uc003mac.1_Missense_Mutation_p.D251N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	454	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGGGTTGTCCTGGAGGTAG	0.612000														45			13		0	0	0.002450	0	0
TTC12	54970	broad.mit.edu	37	11	113222857	113222857	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:113222857C>T	uc001pnv.3	+	15	1497	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	TTC12_uc001pnu.3_Silent_p.L458L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.L308L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	458							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGGAAACCTCAGTGCTGAGC	0.512000														38			11		0	0	0.010729	0	0
CACNG3	10368	broad.mit.edu	37	16	24366154	24366154	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:24366154G>A	uc002dmf.3	+	3	1498	c.296_splice	c.e3-1	p.R99_splice		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	99					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R99Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTCTCCGCAGGAGCTGTGAGG	0.637000														59			6		0	0	0.001984	0	0
MYH11	4629	broad.mit.edu	37	16	15841531	15841531	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:15841531G>A	uc002ddx.3	-	19	2435	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	MYH11_uc002ddv.3_Silent_p.F776F|MYH11_uc002ddw.3_Silent_p.F769F|MYH11_uc002ddy.3_Silent_p.F769F|MYH11_uc010bvg.3_Silent_p.F601F	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	769	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGTTCGGAAGAAGATTTTGC	0.522000			T	CBFB	AML									52			8		0	0	0.003080	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373762	86373763	+	Missense_Mutation	DNP	AA	GG	GG			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:86373762_86373763AA>GG	uc010sum.2	-	5	972_973	c.813_814TT>CC	c.(811-816)acttac>acCCac	p.Y272H	MGAT4C_uc001tal.4_Missense_Mutation_p.Y248H|MGAT4C_uc001taj.4_Missense_Mutation_p.Y248H|MGAT4C_uc001tak.4_Missense_Mutation_p.Y248H|MGAT4C_uc001tai.4_Missense_Mutation_p.Y248H|MGAT4C_uc001tah.4_Missense_Mutation_p.Y248H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	248					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.Y248H(1)|p.R271C(1)|p.L272L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTTACCCAGTAAGTTCCTTCTA	0.351000														37			6		0	0	0.004672	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65140806	65140806	+	Silent	SNP	C	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:65140806C>A	uc002anv.3	+	1	161	c.27C>A	c.(25-27)gcC>gcA	p.A9A	PLEKHO2_uc002anw.3_Intron	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	9										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAGGAAGCCGGTGAGAAGC	0.557000														93			27		3.73988e-18	3.86755e-18	0.006320	1	0
CTNNA2	1496	broad.mit.edu	37	2	80874951	80874951	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:80874951C>T	uc010ysh.2	+	17	2821	c.2816C>T	c.(2815-2817)tCg>tTg	p.S939L	CTNNA2_uc010yse.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysf.2_Missense_Mutation_p.S891L|CTNNA2_uc010ysg.2_Missense_Mutation_p.S846L|CTNNA2_uc010ysi.2_Missense_Mutation_p.S523L|CTNNA2_uc010ysj.2_Missense_Mutation_p.S220L	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	939					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAACACATTTCGCCTGTACAG	0.403000														122			14		0	0	0.001855	0	0
B3GALT5	10317	broad.mit.edu	37	21	41032912	41032912	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr21:41032912C>T	uc021wjj.1	+	0	426	c.426C>T	c.(424-426)gtC>gtT	p.V142V	B3GALT5_uc002yyb.1_Silent_p.V142V|B3GALT5_uc002yye.2_Silent_p.V142V|B3GALT5_uc002yyi.1_Silent_p.V142V|B3GALT5_uc002yyj.1_Silent_p.V142V|B3GALT5_uc002yyk.1_Silent_p.V142V|B3GALT5_uc002yyl.1_Silent_p.V142V|B3GALT5_uc002yym.1_Silent_p.V142V	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	142					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TAGAATGGGTCCATCGCTTTT	0.463000														93			10		0	0	0.010729	0	0
C7orf60	154743	broad.mit.edu	37	7	112462082	112462082	+	Missense_Mutation	SNP	T	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:112462082T>A	uc011kms.1	-	5	1140	c.1013A>T	c.(1012-1014)cAt>cTt	p.H338L	C7orf60_uc003vgo.1_Missense_Mutation_p.H312L	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	312										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGATGCATATGTGAAAATTT	0.388000														38			15		0	0	0.004990	0	0
EPPK1	83481	broad.mit.edu	37	8	144945289	144945289	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:144945289G>A	uc003zaa.1	-	0	2146	c.2133C>T	c.(2131-2133)atC>atT	p.I711I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	711						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)			GCTCCCGGACGATGAGGCCCT	0.687000														69			16		0	0	0.004990	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808159	18808159	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:18808159G>A	uc001bax.3	+	0	736	c.684G>A	c.(682-684)gtG>gtA	p.V228V	KLHDC7A_uc009vpg.3_Silent_p.V10V	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	228						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCCGTGTGATAGGGGTCA	0.602000														58			16		0	0	0.004007	0	0
FIBIN	387758	broad.mit.edu	37	11	27016142	27016142	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:27016142C>T	uc001mrd.3	+	0	515	c.69C>T	c.(67-69)ccC>ccT	p.P23P		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	23						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TCGATGGCCCCCTCTACCCAG	0.542000														58			8		0	0	0.008291	0	0
SAMD3	154075	broad.mit.edu	37	6	130497110	130497110	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:130497110C>T	uc003qbw.3	-	7	1026	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	SAMD3_uc003qbx.3_Missense_Mutation_p.R233Q|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	233								p.R233*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343000														61			9		0	0	0.006214	0	0
NWD1	284434	broad.mit.edu	37	19	16918894	16918894	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:16918894C>T	uc002neu.4	+	17	4656	c.4234C>T	c.(4234-4236)Ctg>Ttg	p.L1412L	NWD1_uc002net.4_Silent_p.L1277L|NWD1_uc002nev.4_Silent_p.L1206L|NWD1_uc021uqg.1_Silent_p.L1277L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1412							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATGCCCTGCTGTGTCTCTG	0.597000														97			16		0	0	0.004007	0	0
BTF3	689	broad.mit.edu	37	5	72798383	72798383	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:72798383C>T	uc003kcr.1	+	2	515	c.272C>T	c.(271-273)tCc>tTc	p.S91F	BTF3_uc003kcq.1_Missense_Mutation_p.S47F	NM_001037637	NP_001198	P20290	BTF3_HUMAN	Homo sapiens basic transcription factor 3 (BTF3), transcript variant 1, mRNA.	91	NAC-A/B.			Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		CTTCAGTTCTCCTTAAAGAAG	0.378000														22			4		0	0	0.014758	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910950	230910950	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:230910950C>T	uc002vqd.2	-	3	1351	c.892G>A	c.(892-894)Gag>Aag	p.E298K	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.E298K|SLC16A14_uc002vqf.3_Missense_Mutation_p.E298K	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	298						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TACCAGTCCTCGAAGCCCTTC	0.512000														36			4		0	0	0.009096	0	0
OR4C15	81309	broad.mit.edu	37	11	55322113	55322113	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:55322113C>T	uc010rig.2	+	0	331	c.331C>T	c.(331-333)Cct>Tct	p.P111S		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGGTGTCTCCTATGTACTT	0.433000										HNSCC(20;0.049)				129			20		0	0	0.008871	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657494	72657494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:72657494C>T	uc003txs.1	-	12	2418	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ttctggtattcccaccttgtc	0.507000														148			66		0	0	0.014410	0	0
OR1F1	4992	broad.mit.edu	37	16	3254744	3254744	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:3254744C>T	uc010uwu.2	+	0	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P165A(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGCTCCACTCTCATTCTGTG	0.517000														80			19		0	0	0.006122	0	0
SIN3A	25942	broad.mit.edu	37	15	75684670	75684670	+	Missense_Mutation	SNP	G	C	C	rs150346677		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:75684670G>C	uc002bai.3	-	14	3023	c.2764C>G	c.(2764-2766)Cga>Gga	p.R922G	SIN3A_uc002baj.3_Missense_Mutation_p.R922G|SIN3A_uc010uml.2_Missense_Mutation_p.R922G	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	922					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TCTCTCTCTCGGTTTTCTTCT	0.493000														123			21		0	0	0.003330	0	0
ZNF238	10472	broad.mit.edu	37	1	244217202	244217203	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:244217202_244217203CC>TT	uc001iad.4	+	1	299_300	c.126_127CC>TT	c.(124-129)gcccag>gcTTag	p.Q43*	ZNF238_uc001iae.3_Nonsense_Mutation_p.Q34*|ZNF238_uc001iaf.1_Nonsense_Mutation_p.Q34*	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	34	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TGGGAGATGCCCAGTTCCGAGC	0.490000														57			15		0	0	0.004672	0	0
HCN1	348980	broad.mit.edu	37	5	45262128	45262128	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:45262128G>A	uc003jok.3	-	7	2593	c.2568C>T	c.(2566-2568)gtC>gtT	p.V856V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	856						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTGGAGGGACTCCTCGGT	0.602000														97			21		0	0	0.004656	0	0
MAPK8	5599	broad.mit.edu	37	10	49618124	49618124	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:49618124G>A	uc001jgp.3	+	3	412	c.363G>A	c.(361-363)atG>atA	p.M121I	MAPK8_uc001jgn.3_Missense_Mutation_p.M121I|MAPK8_uc001jgm.3_Missense_Mutation_p.M121I|MAPK8_uc001jgo.3_Missense_Mutation_p.M121I|MAPK8_uc001jgq.3_Missense_Mutation_p.M121I|MAPK8_uc009xoa.3_Missense_Mutation_p.M121I|MAPK8_uc021ppy.1_Missense_Mutation_p.M121I|MAPK8_uc010qgk.2_Missense_Mutation_p.M121I	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	121	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding	p.Q120*(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TGATTCAGATGGAGCTAGATC	0.398000														79			20		0	0	0.010504	0	0
PDZD2	23037	broad.mit.edu	37	5	32074338	32074338	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:32074338G>A	uc003jhl.3	+	17	3514	c.3126G>A	c.(3124-3126)gaG>gaA	p.E1042E	PDZD2_uc003jhm.3_Silent_p.E1042E|PDZD2_uc011cnx.1_Silent_p.E868E	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1042					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGGACTTAGAGGAGAGTATCC	0.592000														83			26		0	0	0.003954	0	0
CDH12	1010	broad.mit.edu	37	5	21765107	21765107	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:21765107C>T	uc010iuc.2	-	8	1953	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CDH12_uc011cno.1_Missense_Mutation_p.E459K|CDH12_uc003jgk.2_Missense_Mutation_p.E499K|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	499	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTGGCATTTTCACACACGGCT	0.353000										HNSCC(59;0.17)				71			10		0	0	0.008291	0	0
CFB	629	broad.mit.edu	37	6	31895861	31895861	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:31895861C>T	uc011doq.2	+	1	440	c.61C>T	c.(61-63)Cag>Tag	p.Q21*	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.P59L|CFB_uc003nyf.3_Missense_Mutation_p.P59L|CFB_uc010jtk.3_Intron|CFB_uc011dor.2_Missense_Mutation_p.P59L	NM_001178063	NP_001171534	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 3, mRNA.	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TACCCATCCCCAGCATCACGG	0.632000														330			33		0	0	0.015359	0	0
MUC16	94025	broad.mit.edu	37	19	9046738	9046738	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9046738C>T	uc002mkp.3	-	4	35097	c.34893G>A	c.(34891-34893)gtG>gtA	p.V11631V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11633	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V11631V(1)|p.V7264V(1)		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						CCTGTGAGGTCACTACCCCTG	0.527000														75			11		0	0	0.008291	0	0
SCAND3	114821	broad.mit.edu	37	6	28543880	28543880	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:28543880C>T	uc003nlo.3	-	2	1220	c.602G>A	c.(601-603)aGc>aAc	p.S201N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	201					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACCACCCATGCTTTGAGACAT	0.328000														37			4		0	0	0.014758	0	0
CSMD2	114784	broad.mit.edu	37	1	33990616	33990616	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:33990616G>A	uc001bxm.1	-	65	10439	c.10262C>T	c.(10261-10263)tCc>tTc	p.S3421F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3277F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3277						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCCACAGGGAATTCTTGGC	0.502000														137			32		0	0	0.005524	0	0
CSMD1	64478	broad.mit.edu	37	8	3263610	3263610	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:3263610G>A	uc022aqr.1	-	14	2595	c.2205C>T	c.(2203-2205)tcC>tcT	p.S735S	CSMD1_uc011kwj.2_Silent_p.S128S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	736	Sushi 4.					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)		TGCAGGTAATGGACTCGGATC	0.547000														43			8		0	0	0.004482	0	0
THSD7B	80731	broad.mit.edu	37	2	137917931	137917931	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:137917931G>A	uc002tva.1	+	4	1425	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G365G	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCCTCAGGGGAAAAAAGGTG	0.468000														42			9		0	0	0.013537	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068610	103068610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:103068610C>T	uc002tbx.3	+	11	2253	c.1769C>T	c.(1768-1770)aCt>aTt	p.T590I	IL18RAP_uc010fiz.3_Missense_Mutation_p.T448I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	590					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACAGAAACCACTGGGAGGAGC	0.512000														83			15		0	0	0.002450	0	0
BCAN	63827	broad.mit.edu	37	1	156622522	156622522	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:156622522C>T	uc001fpp.3	+	7	2116	c.1780C>T	c.(1780-1782)Ctg>Ttg	p.L594L	BCAN_uc001fpo.3_Silent_p.L594L	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	594					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCCCCTTCCCTGCTTCCAGC	0.637000														39			16		0	0	0.004007	0	0
MUC16	94025	broad.mit.edu	37	19	9060457	9060457	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9060457T>C	uc002mkp.3	-	2	27193	c.26989A>G	c.(26989-26991)Aca>Gca	p.T8997A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8999	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						AGGGTGGATGTTGACTCCATC	0.498000														94			28		0	0	0.010818	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033538	37033538	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:37033538C>T	uc003cgk.3	-	0	1258	c.1031G>A	c.(1030-1032)aGa>aAa	p.R344K	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	344						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						AGTTTTCCCTCTCCTAAGCCA	0.413000														141			44		0	0	0.010771	0	0
GLB1L	79411	broad.mit.edu	37	2	220102567	220102567	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:220102567G>A	uc002vkm.3	-	14	1693	c.1454C>T	c.(1453-1455)tCt>tTt	p.S485F	GLB1L_uc002vkk.3_Missense_Mutation_p.S242F|GLB1L_uc010zkx.2_Missense_Mutation_p.S395F|GLB1L_uc002vkn.3_Missense_Mutation_p.S485F	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	485					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTGCTGTTAGACCCAAAGCT	0.443000														66			10		0	0	0.008291	0	0
AK5	26289	broad.mit.edu	37	1	78024300	78024300	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:78024300G>T	uc001dhn.3	+	13	1971	c.1634G>T	c.(1633-1635)gGa>gTa	p.G545V	AK5_uc001dho.3_Missense_Mutation_p.G519V	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	545					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AATGCAGAGGGAACACCAGAG	0.313000														55			9		0.00448238	0.00456662	0.004482	1	0
RGS11	8786	broad.mit.edu	37	16	321083	321083	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:321083C>T	uc002cgj.1	-	12	882	c.879G>A	c.(877-879)acG>acA	p.T293T	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.T272T|RGS11_uc010bqs.1_Silent_p.T282T|RGS11_uc002cgk.1_Silent_p.T109T	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	293					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACGGAGCTTCGTGGGGGCAG	0.682000														33			4		0	0	0.009096	0	0
PTPRK	5796	broad.mit.edu	37	6	128302403	128302403	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:128302403G>A	uc003qbk.3	-	24	3933	c.3566C>T	c.(3565-3567)gCt>gTt	p.A1189V	PTPRK_uc010kfc.3_Missense_Mutation_p.A1196V|PTPRK_uc003qbj.3_Missense_Mutation_p.A1190V|PTPRK_uc011ebu.2_Missense_Mutation_p.A1212V	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1189	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)		GCAGTCTTCAGCTTGTAGTCG	0.428000														19			11		0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	31039149	31039149	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:31039149G>A	uc002nsu.1	+	3	2761	c.2623G>A	c.(2623-2625)Ggc>Agc	p.G875S	ZNF536_uc010edd.1_Missense_Mutation_p.G875S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.T874T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGGCCACGGGCATGTCTTC	0.552000														80			19		0	0	0.008871	0	0
XKR9	389668	broad.mit.edu	37	8	71646537	71646537	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:71646537C>T	uc003xyq.3	+	4	1534	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	XKR9_uc010lzd.3_Missense_Mutation_p.L202F|XKR9_uc010lze.3_Missense_Mutation_p.L334F	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	334						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TCTTGGAATTCTTTTTCTTAT	0.323000														23			6		0	0	0.001168	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665951	19665951	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:19665951G>A	uc002wrl.3	+	11	1467	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	424	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						tgatgaggaggaagaggagga	0.532000														56			10		0	0	0.010729	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149777843	149777843	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:149777843G>A	uc010kid.3	-	3	909	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ZC3H12D_uc003qmn.1_Silent_p.F213F	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	213						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCTGCTCGATGAACCACTTCC	0.657000														73			18		0	0	0.008871	0	0
HIF3A	64344	broad.mit.edu	37	19	46834519	46834519	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:46834519C>T	uc002peh.3	+	12	1850	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	HIF3A_uc002peg.4_Missense_Mutation_p.P607S|HIF3A_uc021uwf.1_Missense_Mutation_p.P551S|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.P538S|HIF3A_uc002pel.3_Missense_Mutation_p.P605S|HIF3A_uc010xxz.2_Missense_Mutation_p.P556S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.P605S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCTGCTCTTTCCTCTCAGCCT	0.542000														49			14		0	0	0.004990	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647216	34647216	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:34647216C>T	uc002kzz.3	+	6	962	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	KIAA1328_uc002lab.3_Missense_Mutation_p.R30C|KIAA1328_uc002lac.1_Missense_Mutation_p.R137C|KIAA1328_uc002lad.3_Missense_Mutation_p.R30C	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	314								p.D313N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGCTGCAGATCGTGTTCATGA	0.458000														53			7		0	0	0.001984	0	0
HDGF	3068	broad.mit.edu	37	1	156714136	156714136	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:156714136G>A	uc001fpy.4	-	3	630	c.308C>T	c.(307-309)tCc>tTc	p.S103F	HDGF_uc009wsd.3_Missense_Mutation_p.S71F|HDGF_uc001fpz.4_Missense_Mutation_p.S96F|HDGF_uc009wse.3_Missense_Mutation_p.S119F|HDGF_uc010phr.2_Missense_Mutation_p.S126F|HDGF_uc009wsf.3_Missense_Mutation_p.S71F	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	103					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTTTTTCTGGGAGGACTGCAG	0.607000														251			85		0	0	0.014410	0	0
IGSF22	283284	broad.mit.edu	37	11	18732255	18732255	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:18732255C>T	uc009yht.2	-	15	2709	c.2519G>A	c.(2518-2520)cGa>cAa	p.R840Q	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	838	Fibronectin type-III 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTTCTTCCTTCGTTCTACAAT	0.567000														46			10		0	0	0.006214	0	0
CXCR5	643	broad.mit.edu	37	11	118764404	118764404	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:118764404G>A	uc001pue.4	+	1	327	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CXCR5_uc001puf.3_Missense_Mutation_p.A6T	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	51					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CTCCTTCAAGGCCGTGTTCGT	0.607000														121			20		0	0	0.010504	0	0
PSG5	5673	broad.mit.edu	37	19	43689011	43689011	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:43689011C>T	uc002ovu.3	-	1	484	c.353G>A	c.(352-354)gGa>gAa	p.G118E	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G118E	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	118	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGTGTAGGATCCTGCGTCTTC	0.448000														257			62		0	0	0.014410	0	0
SCLT1	132320	broad.mit.edu	37	4	129867241	129867241	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:129867241G>A	uc003igp.2	-	15	1866	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	SCLT1_uc003ign.2_Silent_p.L118L|SCLT1_uc003igo.2_Silent_p.L64L|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	454						centrosome		p.F453F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGAAACCAGGAATCTTTGG	0.348000														18			6		0	0	0.001168	0	0
CCDC141	285025	broad.mit.edu	37	2	179720245	179720245	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179720245T>C	uc002une.2	-	18	3007	c.2889A>G	c.(2887-2889)aaA>aaG	p.K963K	CCDC141_uc002unf.1_Silent_p.K442K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	388							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TATTACTAACTTTTTCCATTT	0.284000														33			6		0	0	0.001984	0	0
CTCFL	140690	broad.mit.edu	37	20	56098238	56098238	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:56098238C>T	uc010giw.1	-	2	751	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	CTCFL_uc010gix.1_Missense_Mutation_p.E214K|CTCFL_uc002xym.2_Missense_Mutation_p.E214K|CTCFL_uc010gjb.1_Missense_Mutation_p.E214K|CTCFL_uc010gja.1_Missense_Mutation_p.E214K|CTCFL_uc010gjc.1_Missense_Mutation_p.E214K|CTCFL_uc010gjd.1_Missense_Mutation_p.E214K|CTCFL_uc010gje.3_Missense_Mutation_p.E214K|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Missense_Mutation_p.E9K|CTCFL_uc010gjh.2_Missense_Mutation_p.E214K|CTCFL_uc010gji.2_Missense_Mutation_p.E9K|CTCFL_uc010gjj.2_Missense_Mutation_p.E214K|CTCFL_uc021wfe.1_Missense_Mutation_p.E214K|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Missense_Mutation_p.E214K|CTCFL_uc010gjl.1_Missense_Mutation_p.E214K	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	214					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)			AGAACAATTTCGTCACTTCTT	0.403000														111			22		0	0	0.014323	0	0
BNC1	646	broad.mit.edu	37	15	83935648	83935648	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:83935648G>A	uc002bjt.1	-	2	463	c.375C>T	c.(373-375)ctC>ctT	p.L125L	BNC1_uc010uos.1_Silent_p.L113L	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	125					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGAGGATCTGGAGAACCTCAT	0.493000														97			19		0	0	0.008871	0	0
CR2	1380	broad.mit.edu	37	1	207641898	207641898	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:207641898C>T	uc001hfw.3	+	2	591	c.472C>T	c.(472-474)Cct>Tct	p.P158S	CR2_uc001hfv.3_Missense_Mutation_p.P158S|CR2_uc009xch.3_Missense_Mutation_p.P158S|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	158	Sushi 3.				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						TCCAGCACTTCCTATGATCCA	0.453000														50			5		0	0	0.014758	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58258011	58258011	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:58258011G>A	uc002aex.3	-	7	1086	c.813C>T	c.(811-813)atC>atT	p.I271I	ALDH1A2_uc010ugv.2_Silent_p.I250I|ALDH1A2_uc002aey.3_Silent_p.I233I|ALDH1A2_uc010ugw.2_Silent_p.I242I|ALDH1A2_uc002aew.3_Silent_p.I175I	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	271					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTGCTTCTTGGATAAGCTTTC	0.443000														41			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179464536	179464536	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179464536C>T	uc021vsy.1	-	237	48613	c.48388G>A	c.(48388-48390)Gaa>Aaa	p.E16130K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9825K|TTN_uc021vta.1_Missense_Mutation_p.E9758K|TTN_uc021vtb.1_Missense_Mutation_p.E9633K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17057	Fibronectin type-III 17.						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)			TTGGTTCCTTCTTCAACCTCC	0.383000														39			10		0	0	0.010729	0	0
COL28A1	340267	broad.mit.edu	37	7	7477065	7477065	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:7477065C>T	uc003src.1	-	21	1868	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	COL28A1_uc011jxe.1_Missense_Mutation_p.G267E|COL28A1_uc003srd.3_Missense_Mutation_p.G139E|COL28A1_uc003sre.1_Missense_Mutation_p.G5E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	584					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCAGGCATTCCAAAAGGGCC	0.388000														37			13		0	0	0.004990	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418357	38418357	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:38418357G>A	uc003jlc.2	+	12	2030	c.1684_splice	c.e12+1	p.G562_splice	EGFLAM_uc003jlb.2_Splice_Site_p.G562_splice|EGFLAM_uc003jle.2_Splice_Site_p.G328_splice|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	562	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGCTGATGTGGGTAAGTGGCT	0.567000														28			6		0	0	0.001168	0	0
IFT172	26160	broad.mit.edu	37	2	27693920	27693920	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27693920G>A	uc002rku.3	-	15	1618	c.1567C>T	c.(1567-1569)Ctc>Ttc	p.L523F		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	523					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGAAGTTGAGGATCATTGTC	0.463000														41			6		0	0	0.001168	0	0
VAMP4	8674	broad.mit.edu	37	1	171679897	171679897	+	Silent	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:171679897T>G	uc001ghx.2	-	4	601	c.222A>C	c.(220-222)gtA>gtC	p.V74V	VAMP4_uc001ghw.2_Non-coding_Transcript|VAMP4_uc001ghy.2_Silent_p.V73V|VAMP4_uc001ghv.2_5'Flank	NM_003762	NP_003753	O75379	VAMP4_HUMAN	Homo sapiens vesicle-associated membrane protein 4 (VAMP4), transcript variant 1, mRNA.	74	v-SNARE coiled-coil homology.				vesicle-mediated transport	Golgi membrane|endosome|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCTCTCAATTACCTTTGTAA	0.318000														85			11		0	0	0.008291	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873490	43873490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:43873490G>A	uc001zrw.3	-	8	1078	c.874C>T	c.(874-876)Cga>Tga	p.R292*	PPIP5K1_uc021sjw.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrx.2_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zry.4_Nonsense_Mutation_p.R292*|PPIP5K1_uc001zrz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjy.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc021sjz.1_Nonsense_Mutation_p.R292*|PPIP5K1_uc010udr.2_Nonsense_Mutation_p.R292*	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	292					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.R292*(1)		large_intestine(1)	1						ACTGGATATCGAATCTCTTTC	0.512000														306			32		0	0	0.003755	0	0
ZNF700	90592	broad.mit.edu	37	19	12060746	12060746	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:12060746A>G	uc010xme.2	+	4	2152	c.1961A>G	c.(1960-1962)cAg>cGg	p.Q654R	ZNF700_uc002msu.3_Missense_Mutation_p.Q636R|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAACCTTCAGATGCATGAA	0.423000														43			3		0	0	0.009096	0	0
PRDM1	639	broad.mit.edu	37	6	106554840	106554840	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:106554840C>T	uc003prd.2	+	6	2191	c.1957C>T	c.(1957-1959)Cat>Tat	p.H653Y	PRDM1_uc003pre.3_Missense_Mutation_p.H519Y	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	653					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCTGCGACTCCATTCTGGAGA	0.562000			"""D, N, Mis, F, S"""		DLBCL									83			18		0	0	0.007413	0	0
TECTA	7007	broad.mit.edu	37	11	121028895	121028895	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:121028895G>A	uc010rzo.2	+	12	4651	c.4651G>A	c.(4651-4653)Gaa>Aaa	p.E1551K		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1551	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTACATTAACGAAGAGCAGAT	0.537000														58			14		0	0	0.003163	0	0
TIE1	7075	broad.mit.edu	37	1	43778840	43778840	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:43778840C>T	uc001ciu.3	+	12	2139	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A	TIE1_uc010okd.2_Silent_p.A654A|TIE1_uc010oke.2_Silent_p.A609A|TIE1_uc009vwq.3_Silent_p.A610A|TIE1_uc010okf.1_Silent_p.A299A|TIE1_uc010okg.2_Silent_p.A299A	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	654	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGCCCAGGCCCTCTCAGACT	0.647000														40			13		0	0	0.002450	0	0
DGCR2	9993	broad.mit.edu	37	22	19055628	19055628	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:19055628G>A	uc002zoq.1	-	2	561	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S	DGCR2_uc021wkx.1_Missense_Mutation_p.P105S|DGCR2_uc021wky.1_Missense_Mutation_p.P64S|DGCR2_uc021wkz.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.P64S|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	105					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCGAACGGGCTGCGCCACG	0.642000														35			8		0	0	0.006214	0	0
C1orf129	80133	broad.mit.edu	37	1	170914708	170914708	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:170914708G>A	uc010plz.2	+	1	165	c.11G>A	c.(10-12)aGg>aAg	p.R4K	C1orf129_uc001ghg.3_Missense_Mutation_p.R4K|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	4							binding	p.T3T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGTTGACAAGGAATCCAAAA	0.358000														20			4		0	0	0.014758	0	0
PCLO	27445	broad.mit.edu	37	7	82764839	82764839	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:82764839G>A	uc003uhx.2	-	2	2316	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	PCLO_uc003uhv.2_Missense_Mutation_p.S676F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	622	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCTGTGGGGATGATTTGCT	0.522000														48			18		0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13868074	13868074	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:13868074C>T	uc003jfd.2	-	24	3904	c.3862G>A	c.(3862-3864)Gga>Aga	p.G1288R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1288	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCAGAAGTCCATATCTGTTA	0.388000									Kartagener syndrome					28			12		0	0	0.010729	0	0
CHAT	1103	broad.mit.edu	37	10	50859978	50859978	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:50859978G>A	uc001jhz.2	+	10	1713	c.1560G>A	c.(1558-1560)ggG>ggA	p.G520G	CHAT_uc001jhv.1_Silent_p.G402G|CHAT_uc001jhx.1_Silent_p.G402G|CHAT_uc001jhy.1_Silent_p.G402G|CHAT_uc001jia.2_Silent_p.G438G|CHAT_uc010qgs.1_Silent_p.G402G	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	520	Coenzyme A binding.				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.G520G(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ACAACTATGGGAAAACATTCA	0.413000														26			5		0	0	0.014758	0	0
DOCK8	81704	broad.mit.edu	37	9	334291	334291	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:334291C>T	uc003zgf.2	+	10	1304	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	DOCK8_uc011lls.1_Missense_Mutation_p.R398W|DOCK8_uc022bcu.1_Missense_Mutation_p.R330W|DOCK8_uc010mgv.3_Missense_Mutation_p.R330W|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc003zgg.3_Missense_Mutation_p.R330W|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	398	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGGGAAATACCGGATGCCCTT	0.443000														70			9		0	0	0.010729	0	0
DNAAF3	352909	broad.mit.edu	37	19	55678019	55678019	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:55678019G>A	uc002qjl.1	-	1	1	c.-1_splice	c.e1-1		DNAAF3_uc002qji.1_5'Flank|DNAAF3_uc002qjj.1_Splice_Site|DNAAF3_uc002qjk.1_Splice_Site	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.																		GGAAGCATGTGGGATGGGACC	0.607000														51			8		0	0	0.003080	0	0
PPEF1	5475	broad.mit.edu	37	X	18748339	18748339	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:18748339T>C	uc004cyq.3	+	4	568	c.87T>C	c.(85-87)ggT>ggC	p.G29G	PPEF1_uc004cyp.3_Silent_p.G29G|PPEF1_uc004cyr.3_Silent_p.G29G|PPEF1_uc004cys.3_Silent_p.G29G|PPEF1_uc011mja.2_Intron|PPEF1_uc011mjb.2_5'UTR	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	29	IQ.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					GGTACCGAGGTTACAAAGCTC	0.463000														29			16		0	0	0.003163	0	0
CHCHD5	84269	broad.mit.edu	37	2	113343995	113343995	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:113343995C>T	uc002tia.2	+	2	551	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CHCHD5_uc002thz.1_Intron			Q9BSY4	CHCH5_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 5 (CHCHD5), mRNA.	0										NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TCCCcttcatccttctggttg	0.537000														12			4		0	0	0.009096	0	0
KCNN3	3782	broad.mit.edu	37	1	154680526	154680526	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:154680526G>A	uc021pah.1	-	8	2481	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	KCNN3_uc001ffo.3_Missense_Mutation_p.P403S|KCNN3_uc001ffp.3_Missense_Mutation_p.P708S	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	713						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TCGGAGATTGGGGTGTGGGTG	0.607000														132			34		0	0	0.004289	0	0
C10orf76	79591	broad.mit.edu	37	10	103792895	103792895	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:103792895G>A	uc009xwy.1	-	3	296	c.194C>T	c.(193-195)tCt>tTt	p.S65F	C10orf76_uc001kui.3_Missense_Mutation_p.S65F	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	65						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		ACCATCAAGAGATTCCAGCTT	0.438000														66			16		0	0	0.003163	0	0
ZNF700	90592	broad.mit.edu	37	19	12060739	12060739	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:12060739A>C	uc010xme.2	+	4	2145	c.1954A>C	c.(1954-1956)Aac>Cac	p.N652H	ZNF700_uc002msu.3_Missense_Mutation_p.N634H|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						ATCTGCCTCAAACCTTCAGAT	0.423000														42			3		0	0	0.009096	0	0
SP140	11262	broad.mit.edu	37	2	231174672	231174672	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:231174672G>A	uc002vql.3	+	22	2207	c.2092G>A	c.(2092-2094)Gac>Aac	p.D698N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.D584N|SP140_uc002vqm.3_Missense_Mutation_p.D638N|SP140_uc010fxl.3_Missense_Mutation_p.D671N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	698					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTGTGCCGGGACGGAGGGGA	0.542000														116			20		0	0	0.003330	0	0
COL28A1	340267	broad.mit.edu	37	7	7571399	7571399	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:7571399C>T	uc003src.1	-	2	378	c.261G>A	c.(259-261)ttG>ttA	p.L87L	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	87	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTCATATTCCAAGGAGCGAC	0.423000														56			31		0	0	0.012213	0	0
LRRTM2	26045	broad.mit.edu	37	5	138208982	138208982	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:138208982A>T	uc011cyz.1	-	1	1725	c.1268T>A	c.(1267-1269)gTa>gAa	p.V423E	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Missense_Mutation_p.V289E|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	423						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCCCGTAATTACCCGCTGAGT	0.413000														100			24		0	0	0.005443	0	0
CDR1	1038	broad.mit.edu	37	X	139865858	139865858	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:139865858C>T	uc004fbg.1	-	0	866	c.674G>A	c.(673-675)aGa>aAa	p.R225K	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	225								p.R224C(1)|p.R224H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGAAAAATCTACGTCTTCC	0.438000														56			22		0	0	0.014323	0	0
ZNF560	147741	broad.mit.edu	37	19	9577729	9577729	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9577729C>T	uc002mlp.1	-	9	2104	c.1894G>A	c.(1894-1896)Gac>Aac	p.D632N	ZNF560_uc010dwr.1_Missense_Mutation_p.D526N	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TTCCCACAGTCCTTATATTCA	0.378000														75			17		0	0	0.006122	0	0
DNAH7	56171	broad.mit.edu	37	2	196729392	196729392	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:196729392G>A	uc002utj.4	-	40	7088	c.6987C>T	c.(6985-6987)atC>atT	p.I2329I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2329	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						GCTGCTTCAGGATCCTGGAAA	0.453000														31			12		0	0	0.010729	0	0
ZAN	7455	broad.mit.edu	37	7	100355938	100355938	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:100355938G>A	uc003uwj.3	+	15	3588	c.3423G>A	c.(3421-3423)aaG>aaA	p.K1141K	ZAN_uc003uwk.3_Silent_p.K1141K|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.	1141	VWFC 1.				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)			GCCAGCTTAAGAATGGCCAGT	0.617000														54			20		0	0	0.008871	0	0
APC	324	broad.mit.edu	37	5	112177788	112177788	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:112177788G>A	uc003kpz.4	+	16	6690	c.6497G>A	c.(6496-6498)cGa>cAa	p.R2166Q	APC_uc011cvt.2_Missense_Mutation_p.R2148Q|APC_uc003kpy.4_Missense_Mutation_p.R2166Q|APC_uc010jbz.3_Missense_Mutation_p.R1883Q|APC_uc010jca.3_Missense_Mutation_p.R1466Q	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2166	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)|p.R2166*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGGCCCACGAATTCTAAAA	0.348000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				44			10		0	0	0.008291	0	0
TNXB	7148	broad.mit.edu	37	6	32038124	32038124	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:32038124G>A	uc003nzl.2	-	13	5260	c.5058C>T	c.(5056-5058)acC>acT	p.T1686T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1768	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGAGTCTGGGGTGGGGTCTG	0.617000														232			64		0	0	0.014410	0	0
CCL14	6358	broad.mit.edu	37	17	34311406	34311406	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:34311406C>T	uc010wcr.1	-	1	241	c.162G>A	c.(160-162)gaG>gaA	p.E54E	CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Silent_p.E70E|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	54					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGTTGGTCTCATAGTAAT	0.577000														102			20		0	0	0.014323	0	0
C1orf106	55765	broad.mit.edu	37	1	200868692	200868692	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:200868692G>A	uc001gvo.3	+	2	444	c.402G>A	c.(400-402)ctG>ctA	p.L134L	C1orf106_uc010ppm.2_Silent_p.L49L	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	134										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGCCTGCCTGGAGGAGCTGA	0.652000														18			7		0	0	0.001984	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10527420	10527420	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:10527420G>A	uc002czw.3	+	2	1033	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.E292K|ATF7IP2_uc002czv.3_Missense_Mutation_p.E292K|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGAAAACGAGGAAAATGTTAA	0.333000														38			7		0	0	0.001984	0	0
NMBR	4829	broad.mit.edu	37	6	142397089	142397089	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:142397089G>A	uc003qiu.3	-	2	1010	c.869C>T	c.(868-870)tCt>tTt	p.S290F		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	290					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ATAGTTGAAAGACCGATACAT	0.433000														44			6		0	0	0.001168	0	0
ZNF215	7762	broad.mit.edu	37	11	6977643	6977643	+	Nonsense_Mutation	SNP	C	T	T	rs142083471		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:6977643C>T	uc001mey.3	+	6	2023	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R241*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTCTCTTATTCGACACCAAAT	0.368000														63			10		0	0	0.013537	0	0
abParts	0	broad.mit.edu	37	14	107179260	107179260	+	RNA	SNP	C	T	T	rs140988424	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:107179260C>T	uc021ser.1	-	36		c.2164G>A								Parts of antibodies, mostly variable regions.																		AAAGTATGTCCATGGTGGAGA	0.532000														31			4		0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9084051	9084051	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9084051T>C	uc002mkp.3	-	0	7968	c.7764A>G	c.(7762-7764)gaA>gaG	p.E2588E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2588	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						TAGCTGAAGTTTCCCAGTTTG	0.458000														87			19		0	0	0.010504	0	0
SRSF5	6430	broad.mit.edu	37	14	70238028	70238028	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:70238028C>T	uc001xll.3	+	8	2120	c.669C>T	c.(667-669)agC>agT	p.S223S	SRSF5_uc001xlo.3_Silent_p.S223S|SRSF5_uc001xlp.3_Silent_p.S223S	NM_006925	NP_008856	Q13243	SRSF5_HUMAN	Homo sapiens serine/arginine-rich splicing factor 5 (SRSF5), transcript variant 2, mRNA.	223	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding|protein binding			large_intestine(1)|liver(1)	2						GGAGCCGGAGCCGGAGCAAGT	0.562000														87			47		0	0	0.013114	0	0
AKAP3	10566	broad.mit.edu	37	12	4737612	4737612	+	Missense_Mutation	SNP	G	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:4737612G>C	uc001qnb.4	-	3	700	c.456C>G	c.(454-456)aaC>aaG	p.N152K		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	152					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGACACATTTGTTTTCAGAGC	0.453000														120			31		0	0	0.005524	0	0
KANSL3	55683	broad.mit.edu	37	2	97271080	97271080	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:97271080G>A	uc002swn.4	-	14	2056	c.1910C>T	c.(1909-1911)cCt>cTt	p.P637L	KANSL3_uc002swh.4_Missense_Mutation_p.P525L|KANSL3_uc002swi.4_Missense_Mutation_p.P564L|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.P550L|KANSL3_uc010fhz.3_Missense_Mutation_p.P457L|KANSL3_uc002swl.4_Missense_Mutation_p.P538L|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.P431L|KANSL3_uc002swo.3_5'UTR|KANSL3_uc002swp.1_Missense_Mutation_p.P538L	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	663																	TCCTTGGGAAGGAGCACAAGG	0.537000														41			8		0	0	0.006214	0	0
NPVF	64111	broad.mit.edu	37	7	25266626	25266626	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:25266626C>T	uc003sxo.3	-	1	205	c.158G>A	c.(157-159)gGg>gAg	p.G53E		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	53					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCTTCTTTCCCCTTTTGGGTA	0.353000														84			16		0	0	0.004990	0	0
ZMYND19	116225	broad.mit.edu	37	9	140481550	140481550	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:140481550G>A	uc004cno.1	-	3	450	c.228C>T	c.(226-228)caC>caT	p.H76H		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	76						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CGCCCCCCCGGTGCCGCTCCC	0.632000														93			23		0	0	0.004656	0	0
ZDHHC11	79844	broad.mit.edu	37	5	843743	843743	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:843743C>T	uc011cma.1	-	3	984	c.600G>A	c.(598-600)ggG>ggA	p.G200G	ZDHHC11_uc010itd.1_5'Flank|ZDHHC11_uc003jbk.3_5'UTR	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	200						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGCGGAGCACCCCGGGGTTCA	0.632000														131			13		0	0	0.002450	0	0
MXRA5	25878	broad.mit.edu	37	X	3241355	3241355	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:3241355G>A	uc004crg.4	-	4	2528	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	791						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)				TTTTTCCCACGGACTTTGGCT	0.453000														37			17		0	0	0.004990	0	0
TTC18	118491	broad.mit.edu	37	10	75104921	75104921	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:75104921C>T	uc009xrc.3	-	5	632	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	TTC18_uc001jty.3_Missense_Mutation_p.V171I|TTC18_uc009xrd.1_5'UTR	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	171							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCCAACGTGACCTTCAGTAGA	0.473000														79			21		0	0	0.008871	0	0
GRM3	2913	broad.mit.edu	37	7	86479772	86479772	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:86479772C>T	uc003uid.3	+	4	3577	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	GRM3_uc010lef.3_Missense_Mutation_p.P469S|GRM3_uc010leg.3_Silent_p.I698I|GRM3_uc010leh.3_Silent_p.I418I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	826					synaptic transmission	integral to plasma membrane		p.I826I(2)|p.L827V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCACATCATCCTGTTTCAAC	0.488000														44			9		0	0	0.006214	0	0
C17orf57	124989	broad.mit.edu	37	17	45456594	45456594	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:45456594G>A	uc002iln.3	+	13	1988	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	C17orf57_uc002ilm.3_Silent_p.K423K|C17orf57_uc010daz.1_Silent_p.K471K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	519	EF-hand 1.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						CTCTCGCCAAGGAGCGAAGTT	0.358000														44			6		0	0	0.003080	0	0
CCDC27	148870	broad.mit.edu	37	1	3673352	3673352	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:3673352G>A	uc001akv.2	+	3	690	c.609G>A	c.(607-609)agG>agA	p.R203R		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	203										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)		TGCGGAAGAGGAGAAAATCCC	0.547000														89			15		0	0	0.003163	0	0
TTLL2	83887	broad.mit.edu	37	6	167754861	167754861	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:167754861G>A	uc003qvs.1	+	2	1561	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	491					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAAGGAGAGATGAGTGGGC	0.532000														56			6		0	0	0.001168	0	0
HOXD3	3232	broad.mit.edu	37	2	177036879	177036879	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:177036879C>T	uc002ukt.1	+	2	1352	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	392					Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACAGTTGCGCCGCGCAGATTC	0.662000														30			4		0	0	0.001168	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951534	119951534	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:119951534C>T	uc010inb.3	+	3	1800	c.1604C>T	c.(1603-1605)tCt>tTt	p.S535F	SYNPO2_uc010ina.3_Missense_Mutation_p.S535F|SYNPO2_uc003icm.4_Missense_Mutation_p.S535F|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S463F|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	535						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCACGACTTCTTACCAAAGA	0.502000														33			10		0	0	0.008291	0	0
ROCK1	6093	broad.mit.edu	37	18	18588072	18588072	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:18588072G>A	uc002kte.3	-	13	2435	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	498	Interaction with FHOD1.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTTCTTTGGTACTCATTAA	0.313000														18			6		0	0	0.001168	0	0
NPFFR2	10886	broad.mit.edu	37	4	73013347	73013347	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:73013347G>A	uc003hgg.2	+	3	1485	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	NPFFR2_uc010iig.2_Missense_Mutation_p.E245K|NPFFR2_uc003hgi.2_Missense_Mutation_p.E364K|NPFFR2_uc003hgh.2_Missense_Mutation_p.E361K	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	463					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			AAAGCCTATGGAAGCTTATGC	0.433000														74			19		0	0	0.007413	0	0
TNFRSF8	943	broad.mit.edu	37	1	12202505	12202505	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:12202505C>T	uc001atq.3	+	14	1927	c.1705C>T	c.(1705-1707)Ctg>Ttg	p.L569L	TNFRSF8_uc010obc.2_Silent_p.L457L|TNFRSF8_uc001atr.3_Silent_p.L106L|TNFRSF8_uc001ats.3_Silent_p.L50L	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	569					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)		AGAACCGCCTCTGGGCAGCTG	0.667000														21			8		0	0	0.006214	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835041	61835041	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:61835041G>A	uc002yeh.3	-	3	545	c.251C>T	c.(250-252)cCa>cTa	p.P84L	YTHDF1_uc011aaq.2_Missense_Mutation_p.P34L	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	84										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GGTGAGGTATGGAATCGGAGG	0.547000														86			37		0	0	0.005524	0	0
PDE3A	5139	broad.mit.edu	37	12	20833104	20833104	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:20833104C>T	uc001reh.2	+	15	3365	c.3325C>T	c.(3325-3327)Cag>Tag	p.Q1109*	PDE3A_uc021qwa.1_Nonsense_Mutation_p.Q787*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1109					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCAGACCCCTCAGTCGCACTC	0.488000														50			13		0	0	0.013537	0	0
GALK2	2585	broad.mit.edu	37	15	49509510	49509510	+	Splice_Site	SNP	C	T	T	rs149095986		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:49509510C>T	uc001zxj.1	+	3	364	c.266_splice	c.e3+1	p.P89_splice	GALK2_uc001zxi.1_Splice_Site_p.P78_splice|GALK2_uc010ufb.1_Splice_Site_p.P65_splice|GALK2_uc001zxk.2_Splice_Site|GALK2_uc010ufc.1_Splice_Site_p.P65_splice	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	89					galactose metabolic process	cytoplasm	ATP binding|N-acetylgalactosamine kinase activity|galactokinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CCCTTGTATCCGTGAGTATTT	0.373000														79			8		0	0	0.003080	0	0
UBE4A	9354	broad.mit.edu	37	11	118239362	118239362	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:118239362C>T	uc001psw.3	+	2	273	c.138C>T	c.(136-138)agC>agT	p.S46S	UBE4A_uc001psv.3_Silent_p.S46S	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	46					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCAGCTAGCCCAGATGACT	0.428000														243			43		0	0	0.013114	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494858	1494858	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:1494858G>A	uc003jcm.3	-	2	567	c.450C>T	c.(448-450)tcC>tcT	p.S150S		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	150					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TCATCACGATGGAGGACATCG	0.632000														63			13		0	0	0.002450	0	0
SPATA16	83893	broad.mit.edu	37	3	172634193	172634193	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:172634193C>T	uc003fin.4	-	8	1601	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	473					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGGGACTGCTCCTTTACTCTC	0.463000														126			30		0	0	0.012213	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930880	54930880	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:54930880C>T	uc003dhf.3	+	25	2399	c.2351C>T	c.(2350-2352)tCg>tTg	p.S784L	CACNA2D3_uc003dhg.1_Missense_Mutation_p.S690L|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	784						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTCGTCTACTCGATCCCATTC	0.567000														97			11		0	0	0.001855	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204423835	204423835	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:204423835G>A	uc001haw.3	-	12	2507	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	PIK3C2B_uc010pqv.2_Silent_p.F676F|PIK3C2B_uc001hax.1_Silent_p.F676F|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	676					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGTACTTGGAGAAGTGAGCTC	0.557000														161			22		0	0	0.014323	0	0
DNAH9	1770	broad.mit.edu	37	17	11642268	11642268	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:11642268G>A	uc002gne.3	+	28	5954	c.5886G>A	c.(5884-5886)ctG>ctA	p.L1962L	DNAH9_uc010coo.3_Silent_p.L1256L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1962	AAA 1 (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	p.S1961I(1)|p.S1961R(1)		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)		AGATCAGCCTGAATCCTTCTG	0.478000														62			7		0	0	0.003080	0	0
HFE2	148738	broad.mit.edu	37	1	145416872	145416872	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:145416872C>T	uc001eni.2	+	3	1542	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	HFE2_uc001enk.2_Missense_Mutation_p.S293F|HFE2_uc001enj.2_Missense_Mutation_p.S180F|HFE2_uc001enl.2_Missense_Mutation_p.S180F|HFE2_uc021oux.1_Missense_Mutation_p.S180F	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	406					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTCCTCTTTCCTCAGCAACC	0.522000														99			14		0	0	0.001855	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999285	30999285	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:30999285C>T	uc002eaf.2	+	6	997	c.891C>T	c.(889-891)ttC>ttT	p.F297F	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Silent_p.F297F	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	297					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGCTGGTGTTCCTGGCTGCCC	0.657000														121			28		0	0	0.005443	0	0
ANK3	288	broad.mit.edu	37	10	62038626	62038626	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:62038626C>T	uc001jky.3	-	3	658	c.320G>A	c.(319-321)gGa>gAa	p.G107E	ANK3_uc010qih.2_Missense_Mutation_p.G90E|ANK3_uc001jkz.4_Missense_Mutation_p.G101E|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	107					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						TGCTGTGTTTCCTTTCTGTGA	0.388000														95			17		0	0	0.004990	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705396	189705396	+	Missense_Mutation	SNP	C	T	T	rs115909080	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:189705396C>T	uc011bsk.2	-	4	1406	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	LEPREL1_uc003fsg.3_Missense_Mutation_p.E159K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	340					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGGACATCCTCATCATCTGGA	0.463000														54			13		0	0	0.004007	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31120239	31120239	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:31120239G>A	uc003tca.2	+	4	566	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E93K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E93K|ADCYAP1R1_uc003tcb.2_Intron|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E93K	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	93					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CTGGGAGACCGAAACCATTGG	0.562000														56			12		0	0	0.002450	0	0
ALPI	248	broad.mit.edu	37	2	233322995	233322995	+	Missense_Mutation	SNP	G	A	A	rs151137290		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:233322995G>A	uc002vst.4	+	8	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	ALPI_uc002vsu.4_Missense_Mutation_p.D265N	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	354					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.D354N(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622000														66			14		0	0	0.002450	0	0
MUC16	94025	broad.mit.edu	37	19	9080519	9080519	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9080519G>A	uc002mkp.3	-	1	9716	c.9512C>T	c.(9511-9513)tCa>tTa	p.S3171L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3172	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						TGCCTGGCTTGACATCTTTAT	0.473000														118			16		0	0	0.008871	0	0
KDM4D	55693	broad.mit.edu	37	11	94731988	94731988	+	Silent	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:94731988G>T	uc021qow.1	+	0	1452	c.1452G>T	c.(1450-1452)tcG>tcT	p.S484S	KDM4D_uc001pfe.3_Silent_p.S484S	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	484					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S484L(1)|p.A483A(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCACAGCTTCGGGCCCAGAAC	0.617000														33			3		0.004672	0.0047551	0.004672	1	0
FLRT3	23767	broad.mit.edu	37	20	14306665	14306665	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:14306665A>C	uc021war.1	-	0	1488	c.1488T>G	c.(1486-1488)tgT>tgG	p.C496W	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.C496W|FLRT3_uc002wow.2_Missense_Mutation_p.C496W	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	496	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGTCTCAATACAAACAGGAG	0.448000														131			5		0	0	0.014758	0	0
C6orf15	29113	broad.mit.edu	37	6	31079422	31079422	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:31079422G>A	uc003nsk.1	-	1	714	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	238	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TGATACCCCAGATTCCCTCAG	0.567000														52			14		0	0	0.002450	0	0
GPR25	2848	broad.mit.edu	37	1	200843206	200843206	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:200843206C>T	uc001gvn.1	+	0	1041	c.1041C>T	c.(1039-1041)ttC>ttT	p.F347F		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	347						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GTTCCGTGTTCCGTTGCCGGG	0.741000														10			4		0	0	0.009096	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962805	88962805	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:88962805G>A	uc011khi.2	+	3	1047	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	170						intracellular	zinc ion binding	p.G170E(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCTTAAAGGAAAAAATCTC	0.443000										HNSCC(36;0.09)				31			8		0	0	0.004482	0	0
PTPN3	5774	broad.mit.edu	37	9	112144595	112144596	+	Silent	DNP	GG	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:112144595_112144596GG>AA	uc004bed.2	-	23	2626_2627	c.2514_2515CC>TT	c.(2512-2517)gtccta>gtTTta	p.838_839VL>VL	PTPN3_uc004beb.2_Silent_p.707_708VL>VL|PTPN3_uc004bec.2_Silent_p.662_663VL>VL|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.793_794VL>VL|PTPN3_uc011lwh.1_Silent_p.684_685VL>VL|PTPN3_uc011lwd.1_Silent_p.306_307VL>VL|PTPN3_uc011lwe.1_Silent_p.551_552VL>VL|PTPN3_uc011lwf.1_Silent_p.506_507VL>VL	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	838	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGTGAACTAGGACGGGCTCGC	0.545000														17			5		0	0	0.004672	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169911	57169911	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:57169911G>A	uc001cyk.4	+	6	1127	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	352					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTCTTTTATGGATGATAGTG	0.468000														42			10		0	0	0.008291	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696020	99696020	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:99696020G>A	uc001kou.2	-	2	684	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	CRTAC1_uc001kov.3_Missense_Mutation_p.R110W|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	110						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTCCCCTGCCGGTCCCGCAGC	0.622000														44			7		0	0	0.006214	0	0
OR52N4	390072	broad.mit.edu	37	11	5776098	5776098	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:5776098G>A	uc001mbu.3	+	0	176	c.128G>A	c.(127-129)gGg>gAg	p.G43E	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GCTATGGTAGGGAATTGTGGA	0.453000														73			15		0	0	0.002450	0	0
FAT4	79633	broad.mit.edu	37	4	126371171	126371171	+	Silent	SNP	G	A	A	rs142357260		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:126371171G>A	uc003ifj.4	+	8	9000	c.9000G>A	c.(8998-9000)acG>acA	p.T3000T	FAT4_uc011cgp.2_Silent_p.T1298T|FAT4_uc003ifi.1_Silent_p.T478T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3000	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGTTGGTACGAAGTTAATCA	0.318000														46			7		0	0	0.001984	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338222	13338222	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:13338222C>T	uc003gms.3	+	0		c.3186C>T								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AGGAGATTTTCCTTTGGGAGT	0.433000														32			7		0	0	0.003080	0	0
RERG	85004	broad.mit.edu	37	12	15262170	15262170	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:15262170C>T	uc001rcs.3	-	3	614	c.474G>A	c.(472-474)gaG>gaA	p.E158E	RERG_uc001rct.3_Silent_p.E158E|RERG_uc010shu.2_Silent_p.E139E	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	158					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATAGAATATCTCTGTGATGT	0.537000														71			24		0	0	0.003330	0	0
MYO18B	84700	broad.mit.edu	37	22	26224751	26224751	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:26224751C>T	uc003abz.1	+	14	3045	c.2795C>T	c.(2794-2796)tCc>tTc	p.S932F	MYO18B_uc003aca.1_Missense_Mutation_p.S813F|MYO18B_uc010guy.1_Missense_Mutation_p.S813F|MYO18B_uc010guz.1_Missense_Mutation_p.S813F|MYO18B_uc011aka.1_Missense_Mutation_p.S86F|MYO18B_uc011akb.1_Missense_Mutation_p.S445F	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	932	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGATCCTTTTCCTCCCACCAT	0.567000														58			11		0	0	0.001855	0	0
SLC38A9	153129	broad.mit.edu	37	5	54948435	54948435	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:54948435G>A	uc003jqf.2	-	9	1466	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	SLC38A9_uc003jqd.2_Missense_Mutation_p.P229S|SLC38A9_uc010ivx.2_Missense_Mutation_p.P265S|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Missense_Mutation_p.P163S	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	292					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AGATAAAAGGGGACTGTCCTG	0.433000														36			8		0	0	0.004482	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3941164	3941164	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:3941164G>A	uc010xia.2	+	5	720	c.506G>A	c.(505-507)gGt>gAt	p.G169D	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.G164D	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	164					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCAACGGTGTGGAAGTG	0.602000														114			28		0	0	0.006320	0	0
CELSR3	1951	broad.mit.edu	37	3	48664104	48664104	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:48664104G>A	uc003cuf.1	-	53	12246	c.12246C>T	c.(12244-12246)ttC>ttT	p.F4082F	CELSR3_uc003cug.3_Silent_p.F675F|CELSR3_uc011bbp.2_Silent_p.F660F|CELSR3_uc010hke.3_Silent_p.F528F|CELSR3_uc003cuk.3_Silent_p.F588F|CELSR3_uc003cuh.3_Silent_p.F696F|CELSR3_uc003cui.3_Silent_p.F695F|CELSR3_uc003cuj.3_Silent_p.F677F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAATCTCCCGGAAGTCATGGA	0.597000														147			34		0	0	0.006230	0	0
TNN	63923	broad.mit.edu	37	1	175092555	175092555	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:175092555C>T	uc001gkl.1	+	11	2783	c.2670C>T	c.(2668-2670)aaC>aaT	p.N890N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	890	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCAAAAACCTAGTGACTG	0.483000														57			13		0	0	0.001855	0	0
KIAA0100	9703	broad.mit.edu	37	17	26955507	26955507	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:26955507G>A	uc002hbu.3	-	23	4473	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1457						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AGTTGTCCAGGAAATCCGTAA	0.458000														68			19		0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881126	228881126	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:228881126G>A	uc002vpq.2	-	6	4491	c.4444C>T	c.(4444-4446)Cat>Tat	p.H1482Y	SPHKAP_uc002vpp.2_Missense_Mutation_p.H1482Y|SPHKAP_uc010zlx.1_Missense_Mutation_p.H1482Y	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1482						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTCACCTATGGATTTGACAA	0.443000														142			29		0	0	0.012213	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276910	71276910	+	Missense_Mutation	SNP	G	A	A	rs36179995		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:71276910G>A	uc001oqt.1	+	0	302	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	93	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						CTCCAAGGGGGGCTGTGGCTC	0.677000														147			45		0	0	0.013114	0	0
RYR1	6261	broad.mit.edu	37	19	39001196	39001196	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:39001196C>T	uc002oit.3	+	58	9121	c.8991C>T	c.(8989-8991)ttC>ttT	p.F2997F	RYR1_uc002oiu.3_Silent_p.F2997F|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2997					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)	AGATTAAATTCTTTGCCAAGG	0.562000														78			23		0	0	0.003954	0	0
SCYL1	57410	broad.mit.edu	37	11	65298163	65298163	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:65298163C>T	uc001oea.1	+	6	990	c.913C>T	c.(913-915)Cct>Tct	p.P305S	SCYL1_uc009yqk.3_Missense_Mutation_p.P305S|SCYL1_uc001oeb.1_Missense_Mutation_p.P305S|SCYL1_uc001oec.1_Missense_Mutation_p.P305S|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	305	Protein kinase.				regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGACGCATTCCCTGAGGATTT	0.597000														72			24		0	0	0.003954	0	0
SYT17	51760	broad.mit.edu	37	16	19236127	19236127	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:19236127G>A	uc002dfw.3	+	6	1526	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	SYT17_uc002dfx.3_Missense_Mutation_p.E338K|SYT17_uc002dfy.3_Missense_Mutation_p.E395K	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	399	C2 2.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGTTCCCCAAGAAGAACTGGA	0.458000														84			17		0	0	0.007413	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195937578	195937578	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:195937578C>T	uc003fwc.3	-	1	291	c.177G>A	c.(175-177)tgG>tgA	p.W59*	ZDHHC19_uc010iaa.3_Intron|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Non-coding_Transcript	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	59						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CAGGAAAGGCCCACTCCCCGT	0.577000														34			5		0	0	0.014758	0	0
OR7G2	390882	broad.mit.edu	37	19	9213689	9213689	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9213689C>T	uc010xkk.2	-	0	294	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TCTTTGGGATCGTGGTTGTGC	0.488000														78			12		0	0	0.013537	0	0
STAB1	23166	broad.mit.edu	37	3	52541961	52541961	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:52541961G>A	uc003dej.3	+	19	2141	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	STAB1_uc003dei.1_Silent_p.K689K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	689					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.P688R(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTCCCCAAGGAGTGTGTCT	0.577000														68			14		0	0	0.004990	0	0
BCAR3	8412	broad.mit.edu	37	1	94048307	94048307	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:94048307G>A	uc001dpz.3	-	6	1512	c.1237C>T	c.(1237-1239)Ctc>Ttc	p.L413F	BCAR3_uc001dqa.3_Missense_Mutation_p.L413F|BCAR3_uc001dqb.3_Missense_Mutation_p.L413F|BCAR3_uc001dpx.4_Missense_Mutation_p.L89F|BCAR3_uc001dpy.3_Missense_Mutation_p.L322F|BCAR3_uc009wdm.1_Missense_Mutation_p.L89F	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	413					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGAACCTTGAGGAACGGCACC	0.627000														61			12		0	0	0.002450	0	0
HERC2P9	440248	broad.mit.edu	37	15	28899526	28899526	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:28899526C>T	uc010uan.1	+	1		c.274C>T			HERC2P9_uc010azc.3_Non-coding_Transcript|HERC2P9_uc010uao.1_5'Flank					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		CCCTCAGCTCCCTGCAGTGGA	0.622000														18			4		0	0	0.009096	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				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)			TCAGCAGTTCGAACTAATAGT	0.423000										HNSCC(39;0.1)				70			18		0	0	0.004990	0	0
ZNF618	114991	broad.mit.edu	37	9	116812241	116812241	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:116812241C>T	uc004bid.3	+	14	2758	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	ZNF618_uc004bic.3_Missense_Mutation_p.P794S|ZNF618_uc011lxi.2_Missense_Mutation_p.P854S|ZNF618_uc011lxj.2_Missense_Mutation_p.P855S|ZNF618_uc010mvb.3_Missense_Mutation_p.P477S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	887					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCAGGCTACCCCTGATCTCTT	0.592000														75			13		0	0	0.013537	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662517	40662517	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:40662517G>A	uc011aor.2	+	4	2494	c.2283G>A	c.(2281-2283)tgG>tgA	p.W761*	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.W761*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.W565*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	761					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						ACAGCAATTGGGAAAGTTCTG	0.517000														28			3		0	0	0.004672	0	0
ANK1	286	broad.mit.edu	37	8	41571742	41571742	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:41571742G>A	uc003xok.3	-	15	1816	c.1732C>T	c.(1732-1734)Cat>Tat	p.H578Y	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.H578Y|ANK1_uc003xoj.3_Missense_Mutation_p.H578Y|ANK1_uc003xol.3_Missense_Mutation_p.H578Y|ANK1_uc003xom.3_Missense_Mutation_p.H611Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	578	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGTTGTGATGGACGGCCACG	0.657000														39			8		0	0	0.006214	0	0
VWA5A	4013	broad.mit.edu	37	11	124013234	124013234	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:124013234C>T	uc001pzu.3	+	16	2318	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	VWA5A_uc001pzt.3_Silent_p.I703I	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	703										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TAGCCAAGATCCTAGGTATGA	0.423000														67			19		0	0	0.008871	0	0
MYNN	55892	broad.mit.edu	37	3	169496554	169496554	+	Splice_Site	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:169496554A>T	uc003ffu.3	+	4	763	c.267_splice	c.e4-2	p.S89_splice	MYNN_uc011bpm.2_Splice_Site|MYNN_uc003fft.3_Splice_Site_p.S89_splice|MYNN_uc003ffv.3_Intron|MYNN_uc010hwo.3_Splice_Site_p.S89_splice|MYNN_uc003ffw.1_5'Flank	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	89	BTB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTTTCCTTGCAGTTGGAATGT	0.343000														117			27		0	0	0.004656	0	0
PKP2	5318	broad.mit.edu	37	12	33031163	33031163	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:33031163G>A	uc001rlj.4	-	2	766	c.651C>T	c.(649-651)taC>taT	p.Y217Y	PKP2_uc001rlk.4_Silent_p.Y217Y|PKP2_uc010skj.2_Silent_p.Y217Y	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	217					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTGTCTGTGGTATGTGTCAA	0.632000														58			11		0	0	0.010729	0	0
CATSPERD	257062	broad.mit.edu	37	19	5739414	5739414	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:5739414G>A	uc002mda.3	+	6	598	c.537G>A	c.(535-537)ggG>ggA	p.G179G	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	179						integral to membrane											CAAATACTGGGGGATTCAGTT	0.299000														71			17		0	0	0.010504	0	0
HCLS1	3059	broad.mit.edu	37	3	121350951	121350951	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:121350951C>T	uc003eeh.4	-	12	1446	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	HCLS1_uc011bjj.2_Missense_Mutation_p.G404R	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	441	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.G441G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AACCTACCTCCTTGGTAATCA	0.537000														131			18		0	0	0.006122	0	0
MICAL1	64780	broad.mit.edu	37	6	109768899	109768899	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:109768899C>T	uc011eaq.2	-	14	2319	c.2028G>A	c.(2026-2028)aaG>aaA	p.K676K	MICAL1_uc003ptj.3_Silent_p.K657K|MICAL1_uc003ptk.3_Silent_p.K657K|MICAL1_uc010kdr.3_Silent_p.K571K	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	657					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGCAGCTTCTTGCCACCAG	0.517000														129			23		0	0	0.005443	0	0
FSHR	2492	broad.mit.edu	37	2	49217768	49217768	+	Missense_Mutation	SNP	G	A	A	rs121909665		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:49217768G>A	uc002rww.3	-	4	493	c.383C>T	c.(382-384)tCc>tTc	p.S128F	FSHR_uc010fbn.3_Missense_Mutation_p.S128F|FSHR_uc002rwx.3_Missense_Mutation_p.S128F|FSHR_uc010fbo.2_Non-coding_Transcript	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	128			S -> Y (in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH).		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.S128P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACCTGTGTTGGATATTAACCT	0.333000									Gonadal Dysgenesis, 46 XX					49			9		0	0	0.010729	0	0
OR5H15	403274	broad.mit.edu	37	3	97888366	97888366	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:97888366C>G	uc011bgu.2	+	0	823	c.823C>G	c.(823-825)Cct>Gct	p.P275A		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TATGGTGGAGCCTCTATTCTA	0.393000														49			8		0	0	0.003080	0	0
OVGP1	5016	broad.mit.edu	37	1	111969247	111969247	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:111969247G>A	uc001eba.3	-	2	128	c.72C>T	c.(70-72)ctC>ctT	p.L24L	OVGP1_uc001eaz.3_5'UTR|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.L14L	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	24					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.L24L(2)|p.L24V(1)|p.L66L(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATAACACACGAGTTTATGGG	0.547000														19			3		0	0	0.004672	0	0
SIDT2	51092	broad.mit.edu	37	11	117061423	117061423	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:117061423C>T	uc001pqg.2	+	18	1806	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	SIDT2_uc010rxe.1_Missense_Mutation_p.H568Y|SIDT2_uc001pqh.1_Missense_Mutation_p.H568Y|SIDT2_uc001pqi.1_Missense_Mutation_p.H565Y	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	568						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGCTTGCTATCATGTGTGCCC	0.537000														44			9		0	0	0.008291	0	0
GPX5	2880	broad.mit.edu	37	6	28497304	28497304	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:28497304C>T	uc003nll.2	+	1	166	c.164C>T	c.(163-165)tCc>tTc	p.S55F	GPX5_uc003nlm.2_Missense_Mutation_p.S55F|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	55					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GAATATGTTTCCTTCAAGCAG	0.423000														91			18		0	0	0.007413	0	0
SAMD3	154075	broad.mit.edu	37	6	130467282	130467282	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:130467282C>T	uc003qbw.3	-	9	1396	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	SAMD3_uc003qbx.3_Silent_p.K356K	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	356										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCCTTGTTTTCTTATAAATAT	0.308000														45			7		0	0	0.001984	0	0
DENND1B	163486	broad.mit.edu	37	1	197552297	197552297	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:197552297G>A	uc021pgu.1	-	14	1472	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Silent_p.L378L|DENND1B_uc001gue.3_Silent_p.L348L	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	378	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TAAAAAGCTGGAGGTTAATGG	0.383000														70			17		0	0	0.008871	0	0
OR6C75	390323	broad.mit.edu	37	12	55759353	55759353	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:55759353C>T	uc010spk.2	+	0	459	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I153I(2)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGTTTCTGATCATCTTTCCAC	0.453000														42			8		0	0	0.003080	0	0
DPYSL5	56896	broad.mit.edu	37	2	27164914	27164914	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27164914C>T	uc002rhu.4	+	9	1344	c.1186C>T	c.(1186-1188)Ccc>Tcc	p.P396S	DPYSL5_uc002rhv.4_Missense_Mutation_p.P396S|DPYSL5_uc021vev.1_Missense_Mutation_p.P396S	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	396					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCATTATTCCCGGAGCCGA	0.532000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			27		0	0	0.012213	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288115	7288115	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:7288115C>T	uc001qss.3	+	2	1150	c.612C>T	c.(610-612)ttC>ttT	p.F204F	CLSTN3_uc001qsr.3_Silent_p.F192F	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	192	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACACCCCTTTCCTCATTGACA	0.577000														94			16		0	0	0.004990	0	0
COX4NB	10328	broad.mit.edu	37	16	85832894	85832894	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:85832894C>T	uc002fjd.3	-	0	255	c.8G>A	c.(7-9)gGg>gAg	p.G3E	COX4NB_uc010vol.2_Missense_Mutation_p.G3E|COX4I1_uc002fje.3_5'Flank|COX4I1_uc002fjf.3_5'Flank	NM_006067	NP_006058	O43402	CX4NB_HUMAN	Homo sapiens COX4 neighbor (COX4NB), transcript variant 1, mRNA.	3						mitochondrion|nucleus				large_intestine(1)|upper_aerodigestive_tract(1)	2						CAGTTTCACCCCGGGCATGCT	0.726000														9			3		0	0	0.004672	0	0
SLA2	84174	broad.mit.edu	37	20	35269686	35269686	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:35269686G>A	uc002xfv.3	-	1	476	c.53C>T	c.(52-54)tCc>tTc	p.S18F	SLA2_uc002xfu.3_Missense_Mutation_p.S18F	NM_032214	NP_115590	Q9H6Q3	SLAP2_HUMAN	Homo sapiens Src-like-adaptor 2 (SLA2), transcript variant 1, mRNA.	18					B cell mediated immunity|T cell activation|antigen receptor-mediated signaling pathway|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	SH3/SH2 adaptor activity|protein N-terminus binding			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TTGGACAGAGGAACTCAAGCT	0.542000														99			10		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419225	37419225	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:37419225C>T	uc021ppc.1	+	2	360	c.261C>T	c.(259-261)ctC>ctT	p.L87L	ANKRD30A_uc001iza.1_Silent_p.L87L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	143						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						ACACGGCTCTCCATTATGCTG	0.443000														21			3		0	0	0.009096	0	0
DSP	1832	broad.mit.edu	37	6	7585382	7585382	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:7585382G>A	uc003mxp.1	+	23	8166	c.7887G>A	c.(7885-7887)gaG>gaA	p.E2629E	DSP_uc003mxq.1_Silent_p.E2030E|DSP_uc021yle.1_Silent_p.E2186E	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2629	Globular 2.				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)		AAAACCTGGAGAAAATCTCCA	0.512000														135			16		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179569654	179569654	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179569654C>T	uc021vsy.1	-	100	26137	c.25912G>A	c.(25912-25914)Gaa>Aaa	p.E8638K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5299K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9565	Ig-like 69.						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)			TCCTCAAATTCCTTTTCGTCC	0.323000														113			18		0	0	0.014323	0	0
GDPD5	81544	broad.mit.edu	37	11	75150947	75150947	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:75150947G>A	uc001owo.4	-	15	2070	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	GDPD5_uc001owp.4_Silent_p.I511I|GDPD5_uc001own.4_Silent_p.I266I|GDPD5_uc009yuc.3_Silent_p.I373I|GDPD5_uc009yud.3_Silent_p.I392I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	511					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.I511I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGATGCCCACGATGAGGGTGA	0.632000														60			10		0	0	0.008291	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603573	101603573	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:101603573G>A	uc001thz.4	-	0	444	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	18					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCATGCCCGCGAACACCACGT	0.687000														37			6		0	0	0.001984	0	0
TRIM24	8805	broad.mit.edu	37	7	138264074	138264074	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:138264074G>A	uc003vuc.3	+	14	2597	c.2382G>A	c.(2380-2382)caG>caA	p.Q794Q	TRIM24_uc003vub.3_Silent_p.Q760Q	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	794					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GACTTCACCAGGACAATTCCT	0.478000														71			29		0	0	0.013726	0	0
PSMD3	5709	broad.mit.edu	37	17	38151308	38151308	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:38151308C>T	uc002htn.1	+	6	1247	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.F262F	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	361	PCI.				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 ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TGCCCTATTTCCTTCTGACTC	0.587000														134			32		0	0	0.009535	0	0
C2orf16	84226	broad.mit.edu	37	2	27801985	27801985	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27801985G>A	uc002rkz.4	+	0	2597	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	849								p.R849Q(3)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGAGATCACGATCTAGGACA	0.478000														50			11		0	0	0.008291	0	0
RNF19A	25897	broad.mit.edu	37	8	101276405	101276405	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:101276405A>G	uc003yjj.1	-	7	1642	c.1325T>C	c.(1324-1326)aTg>aCg	p.M442T	RNF19A_uc003yjk.1_Missense_Mutation_p.M442T	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	442					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			ATAAGCTAACATAATAGGAAC	0.358000														21			4		0	0	0.014758	0	0
LRRC16B	90668	broad.mit.edu	37	14	24534423	24534423	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:24534423G>A	uc001wlj.2	+	32	3494	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	LRRC16B_uc001wlk.2_Missense_Mutation_p.E209K	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1113										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGAGGAGGAGAGCAGCCT	0.667000														20			4		0	0	0.014758	0	0
EPHX4	253152	broad.mit.edu	37	1	92498096	92498096	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:92498096G>A	uc001don.2	+	1	370	c.266G>A	c.(265-267)gGa>gAa	p.G89E		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	89						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GTTGCTGCTGGAGAAAGAGGC	0.358000														67			15		0	0	0.007413	0	0
OR5K1	26339	broad.mit.edu	37	3	98189104	98189104	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:98189104G>A	uc003dsm.3	+	0	684	c.684G>A	c.(682-684)atG>atA	p.M228I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTTCAAAATGAAATCCAAAG	0.348000														48			5		0	0	0.014758	0	0
FLG2	388698	broad.mit.edu	37	1	152329028	152329028	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:152329028C>T	uc001ezw.4	-	2	1307	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	412	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGAAAATTCATTTGAACTA	0.428000														100			22		0	0	0.003330	0	0
NRK	203447	broad.mit.edu	37	X	105179208	105179208	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:105179208C>T	uc004emd.3	+	20	3849	c.3546C>T	c.(3544-3546)ccC>ccT	p.P1182P	NRK_uc010npc.1_Silent_p.P850P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1182							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAGCAACCCTCTGAAGTCA	0.408000										HNSCC(51;0.14)				59			23		0	0	0.016522	0	0
ZNF347	84671	broad.mit.edu	37	19	53644315	53644315	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:53644315C>T	uc002qbc.2	-	4	2196	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	ZNF347_uc002qbb.2_Missense_Mutation_p.G589E|ZNF347_uc010eql.2_Missense_Mutation_p.G590E	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AGTATGAATTCCCCGATGTCT	0.408000														74			12		0	0	0.001855	0	0
TAOK1	57551	broad.mit.edu	37	17	27835062	27835062	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:27835062T>C	uc002hdz.2	+	13	1681	c.1487T>C	c.(1486-1488)tTa>tCa	p.L496S	TAOK1_uc010wbe.2_Missense_Mutation_p.L496S|TAOK1_uc002heb.1_Missense_Mutation_p.L322S	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	496					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CGCCTCAGATTAGACAAAGAT	0.423000														17			6		0	0	0.001984	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38196056	38196056	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:38196056G>A	uc003xli.3	-	2	1263	c.745C>T	c.(745-747)Cca>Tca	p.P249S	WHSC1L1_uc011lbm.2_Missense_Mutation_p.P249S|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P249S|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P249S	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	249					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAACTTACTGGGGCTTCCTCT	0.383000			T	NUP98	AML									68			16		0	0	0.004990	0	0
ITGA2	3673	broad.mit.edu	37	5	52371124	52371124	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:52371124C>T	uc003joy.3	+	22	2958	c.2815C>T	c.(2815-2817)Cac>Tac	p.H939Y	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.H863Y|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	939					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGCTGAAATTCACTTAACAAG	0.393000														28			5		0	0	0.001168	0	0
ANKRD5	63926	broad.mit.edu	37	20	10036182	10036182	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:10036182G>A	uc002wno.3	+	10	2598	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Silent_p.L735L|ANKRD5_uc010gbz.3_Silent_p.L546L	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	735							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						CAGCAGAGCTGATCAGGAAGA	0.438000														31			7		0	0	0.003080	0	0
DNAH17	8632	broad.mit.edu	37	17	76570873	76570873	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:76570873C>T	uc010dhp.2	-	1	392	c.267G>A	c.(265-267)aaG>aaA	p.K89K		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGTAGTTGTCCTTGTTGATGT	0.582000														111			20		0	0	0.012319	0	0
EFTUD2	9343	broad.mit.edu	37	17	42941122	42941122	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:42941122G>A	uc002ihn.2	-	14	1575	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	EFTUD2_uc010wje.1_Silent_p.I403I|EFTUD2_uc010wjf.1_Silent_p.I428I	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	438						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGGAGAAGGGATATGCTGCA	0.547000														91			20		0	0	0.003330	0	0
CACNA1A	773	broad.mit.edu	37	19	13386753	13386753	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:13386753G>A	uc002mwy.3	-	23	4136	c.3900C>T	c.(3898-3900)ctC>ctT	p.L1300L	CACNA1A_uc002mwx.3_Silent_p.L6L|CACNA1A_uc010dzc.2_Silent_p.L826L|CACNA1A_uc010xnd.2_Silent_p.L1303L|CACNA1A_uc021ups.1_Silent_p.L1300L|CACNA1A_uc010xne.2_Silent_p.L1303L|CACNA1A_uc010dze.2_Silent_p.L1300L|CACNA1A_uc021upt.1_Silent_p.L1301L	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1301					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)	GATGCAGGACGAGCCCCAGGT	0.592000														24			6		0	0	0.001984	0	0
OR6B1	135946	broad.mit.edu	37	7	143701780	143701780	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:143701780G>A	uc003wdt.1	+	0	691	c.691G>A	c.(691-693)Gga>Aga	p.G231R		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CATGCCCACAGGAAAGCAGAA	0.463000														142			53		0	0	0.014410	0	0
KIF4B	285643	broad.mit.edu	37	5	154394888	154394888	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:154394888C>T	uc010jih.1	+	0	1629	c.1469C>T	c.(1468-1470)aCt>aTt	p.T490I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	490					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCATTGATACTGCGGTAGAA	0.448000														75			17		0	0	0.008871	0	0
PNPLA7	375775	broad.mit.edu	37	9	140379138	140379138	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:140379138G>A	uc010ncj.1	-	20	2585	c.2248C>T	c.(2248-2250)Ccg>Tcg	p.P750S	PNPLA7_uc004cnd.1_5'UTR|PNPLA7_uc004cne.1_5'UTR|PNPLA7_uc011mfa.1_Missense_Mutation_p.P133S|PNPLA7_uc004cnf.2_Missense_Mutation_p.P725S	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	725					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGACAGCCGGGTTCCCCAAG	0.662000														18			4		0	0	0.009096	0	0
CSMD1	64478	broad.mit.edu	37	8	2830798	2830798	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:2830798C>T	uc022aqr.1	-	56	9154	c.8764G>A	c.(8764-8766)Gat>Aat	p.D2922N	CSMD1_uc011kwj.2_Missense_Mutation_p.D2252N|CSMD1_uc010lrg.3_Missense_Mutation_p.D933N	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2923	Sushi 22.					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)		GTCCCCGGATCACCACAGAAT	0.463000														163			26		0	0	0.005443	0	0
FGA	2243	broad.mit.edu	37	4	155505387	155505387	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:155505387C>T	uc003iod.1	-	5	2548	c.2490G>A	c.(2488-2490)agG>agA	p.R830R		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	830	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GACTGTTATTCCTTGGGTCAT	0.488000														102			27		0	0	0.005443	0	0
GHSR	2693	broad.mit.edu	37	3	172165494	172165494	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:172165494C>T	uc003fib.2	-	0	753	c.710G>A	c.(709-711)aGg>aAg	p.R237K	GHSR_uc011bpv.2_Missense_Mutation_p.R237K	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	237					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCACAGCTTCCTGCCGATGAG	0.607000														45			11		0	0	0.008291	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073323	17073323	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:17073323C>T	uc002zlp.1	-	0	378	c.118G>A	c.(118-120)Gtc>Atc	p.V40I		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	40					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)				AGGGTCTGGACTGCAGCCAAG	0.642000														58			14		0	0	0.003163	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094928	139094928	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:139094928G>A	uc003qie.3	+	0	272	c.117G>A	c.(115-117)agG>agA	p.R39R	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	39										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGCTGCGGAGGAGCGGGTCCC	0.647000														261			50		0	0	0.014410	0	0
ANKRD54	129138	broad.mit.edu	37	22	38240228	38240228	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:38240228C>T	uc003auc.3	-	0	126	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ANKRD54_uc003aud.3_5'UTR	NM_138797	NP_620152	Q6NXT1	ANR54_HUMAN	Homo sapiens ankyrin repeat domain 54 (ANKRD54), transcript variant 1, mRNA.	6										lung(1)	1	Melanoma(58;0.045)					CGTCCGCGTCCCCGGCGGCGG	0.736000														14			3		0	0	0.004672	0	0
NDNF	79625	broad.mit.edu	37	4	121957872	121957872	+	Silent	SNP	G	A	A	rs148977529	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:121957872G>A	uc003idq.1	-	3	1781	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	418										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAGTCGAACGAGGTATTTAG	0.418000														90			30		0	0	0.008361	0	0
CLCN7	1186	broad.mit.edu	37	16	1500570	1500570	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:1500570G>A	uc002clv.2	-	16	1655	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Silent_p.I491I	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	515						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGGGACGGGATGAAGACCC	0.677000														23			5		0	0	0.014758	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378840	142378840	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:142378840G>A	uc003waa.1	+	1	108	c.108G>A	c.(106-108)aaG>aaA	p.K36K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GCACAGGAAAGAAGATCACTC	0.438000														162			19		0	0	0.008871	0	0
VPRBP	9730	broad.mit.edu	37	3	51517738	51517738	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:51517738G>A	uc003dbe.2	-	2	292	c.107C>T	c.(106-108)aCc>aTc	p.T36I	VPRBP_uc021wys.1_Missense_Mutation_p.T36I|VPRBP_uc003dbg.2_Missense_Mutation_p.T36I	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	36					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTCATACCTGGTAAGGATAGG	0.438000														80			21		0	0	0.014323	0	0
GALNTL6	442117	broad.mit.edu	37	4	173942764	173942764	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:173942764G>A	uc003isv.3	+	11	2362	c.1626G>A	c.(1624-1626)tgG>tgA	p.W542*		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	542	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACCAGCTCTGGGGATACCGGA	0.458000														116			25		0	0	0.008361	0	0
INMT	11185	broad.mit.edu	37	7	30791901	30791901	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:30791901C>T	uc003tbs.1	+	0	151	c.135C>T	c.(133-135)ctC>ctT	p.L45L	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Intron|INMT_uc010kwd.1_Silent_p.L45L	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	45						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						TGGAATGTCTCCACAAGACCT	0.592000														71			12		0	0	0.010729	0	0
FAT4	79633	broad.mit.edu	37	4	126242301	126242301	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:126242301C>T	uc003ifj.4	+	0	4735	c.4735C>T	c.(4735-4737)Cgt>Tgt	p.R1579C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1579	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTGTTGATCGTTATAGTGG	0.458000														118			22		0	0	0.014323	0	0
ODZ4	26011	broad.mit.edu	37	11	78437253	78437253	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:78437253C>T	uc001ozl.4	-	22	3884	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1141					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GATTCATATTCATAACCCACG	0.483000														158			34		0	0	0.004878	0	0
C1orf173	127254	broad.mit.edu	37	1	75037778	75037778	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:75037778C>T	uc001dgg.3	-	13	3835	c.3616G>A	c.(3616-3618)Gaa>Aaa	p.E1206K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1206	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGGTGCCCTTCCTTCAGGGCC	0.592000														115			28		0	0	0.006320	0	0
KCNH1	3756	broad.mit.edu	37	1	211276866	211276866	+	Silent	SNP	G	A	A	rs138645753	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:211276866G>A	uc001hib.2	-	2	452	c.282C>T	c.(280-282)tcC>tcT	p.S94S	KCNH1_uc001hic.2_Silent_p.S94S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	94	PAC.|PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAATTTCAAAGGAATTCATCT	0.358000														32			9		0	0	0.004482	0	0
LOC494141	494141	broad.mit.edu	37	11	18231989	18231989	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:18231989C>T	uc009yhh.3	+	1		c.1013C>T			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		CAAGGTTTTCCAAAAAATCTG	0.413000														30			7		0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70946612	70946612	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	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														37			15		0	0	0.004007	0	0
PNMA2	10687	broad.mit.edu	37	8	26366158	26366158	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:26366158G>A	uc022atc.1	-	0	114	c.114C>T	c.(112-114)gtC>gtT	p.V38V	PNMA2_uc003xez.2_Silent_p.V38V	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	38					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tctcctgaaggacctcctgaa	0.498000														80			18		0	0	0.007413	0	0
ZNF761	388561	broad.mit.edu	37	19	53959500	53959500	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:53959500G>A	uc010eqp.3	+	6	2197	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF761_uc010ydy.2_Missense_Mutation_p.C526Y|ZNF761_uc002qbt.2_Missense_Mutation_p.C526Y	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C526F(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCTTACAAATGTGAAGATAGT	0.388000														36			16		0	0	0.003163	0	0
CPNE2	221184	broad.mit.edu	37	16	57159813	57159813	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:57159813C>T	uc010cct.2	+	11	1394	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	CPNE2_uc002eks.2_Silent_p.D323D|CPNE2_uc010ccu.2_Silent_p.D323D|CPNE2_uc002ekt.1_Silent_p.D81D	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	323	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATCCCCTCGACCCTTCCTCTT	0.542000														43			20		0	0	0.007413	0	0
PPP1R36	145376	broad.mit.edu	37	14	65019549	65019549	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:65019549C>T	uc001xhl.1	+	2	248	c.152C>T	c.(151-153)tCt>tTt	p.S51F		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	51																	GCAGAAGATTCTGTCCAGTGG	0.388000														33			19		0	0	0.010504	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650562	146650562	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:146650562C>T	uc001epg.1	+	0	1133	c.870C>T	c.(868-870)ttC>ttT	p.F290F						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		CAAAGAAATTCCTGGATGCTG	0.433000														19			6		0	0	0.001984	0	0
SLC26A4	5172	broad.mit.edu	37	7	107334926	107334926	+	Splice_Site	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:107334926G>T	uc003vep.3	+	11	1565	c.1341_splice	c.e11+1	p.K447_splice	SLC26A4_uc011kmb.2_Splice_Site_p.K34_splice|SLC26A4_uc011kmc.2_Intron|SLC26A4_uc011kmd.2_Splice_Site_p.K16_splice	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	447					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTGCAGAAGGTATAACCCTG	0.458000									Pendred syndrome					57			12		4.3838e-07	4.48838e-07	0.001855	1	0
SH3GL2	6456	broad.mit.edu	37	9	17791333	17791333	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:17791333G>A	uc003zna.3	+	7	1016	c.728_splice	c.e7+1	p.R243_splice	SH3GL2_uc011lmy.2_Splice_Site_p.R196_splice	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	243	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TGGAAGAAAGGTATTCTACAG	0.428000														85			18		0	0	0.007413	0	0
RGR	5995	broad.mit.edu	37	10	86017671	86017672	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:86017671_86017672GG>AA	uc001kdd.1	+	5	703_704	c.665_666GG>AA	c.(664-666)agg>aAA	p.R222K	RGR_uc001kdc.1_Missense_Mutation_p.R218K|RGR_uc001kde.1_Intron	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	218					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGCCAGCAAGGACGCTGCTGC	0.554000														46			7		0	0	0.004672	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20905384	20905384	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:20905384A>T	uc010sii.2	+	15	2519	c.2164A>T	c.(2164-2166)Att>Ttt	p.I722F	SLCO1C1_uc010sij.2_Missense_Mutation_p.R638S|SLCO1C1_uc009zip.3_Missense_Mutation_p.I556F|SLCO1C1_uc001rei.3_Missense_Mutation_p.R687S|SLCO1C1_uc010sik.2_Missense_Mutation_p.I604F	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					TGTCTACAAGATTCCAAAAGG	0.348000														16			4		0	0	0.014758	0	0
SLC16A12	387700	broad.mit.edu	37	10	91196038	91196038	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:91196038G>A	uc001kgm.3	-	6	1368	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	SLC16A12_uc001kgl.3_5'UTR	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	326						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CATTCCCACGGCAAAGAGGTA	0.458000														39			5		0	0	0.003080	0	0
PBX1	5087	broad.mit.edu	37	1	164769111	164769111	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:164769111G>A	uc001gct.3	+	3	1149	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	PBX1_uc010pku.2_Missense_Mutation_p.R229Q|PBX1_uc001gcs.3_Missense_Mutation_p.R229Q|PBX1_uc010pkv.2_Missense_Mutation_p.R146Q|PBX1_uc010pkw.1_Missense_Mutation_p.R119Q	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	229					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CTGCGTTCCCGATTTCTGGAT	0.617000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									24			7		0	0	0.008291	0	0
DMXL2	23312	broad.mit.edu	37	15	51830595	51830595	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:51830595C>T	uc010ufy.2	-	9	1385	c.1160G>A	c.(1159-1161)gGc>gAc	p.G387D	DMXL2_uc002abf.3_Missense_Mutation_p.G387D|DMXL2_uc010bfa.3_Missense_Mutation_p.G387D	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	387						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)		AACTACAAAGCCCCCATTTCC	0.299000														22			3		0	0	0.009096	0	0
NAALAD2	10003	broad.mit.edu	37	11	89909215	89909215	+	Silent	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:89909215T>G	uc001pdf.4	+	14	1687	c.1578T>G	c.(1576-1578)cgT>cgG	p.R526R	NAALAD2_uc009yvx.3_Silent_p.R493R|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	526	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCAGAGCCCGTTACACTAAGA	0.388000														41			7		0	0	0.004482	0	0
SOS2	6655	broad.mit.edu	37	14	50649216	50649216	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:50649216G>A	uc001wxs.4	-	5	921	c.823C>T	c.(823-825)Ccc>Tcc	p.P275S	SOS2_uc010tql.2_Missense_Mutation_p.P275S|SOS2_uc001wxt.2_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	275	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CCAGCTAAGGGATGAGGACTG	0.333000														28			8		0	0	0.008291	0	0
PLXNA4	91584	broad.mit.edu	37	7	131865476	131865476	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:131865476G>A	uc003vra.4	-	18	3737	c.3508C>T	c.(3508-3510)Ccg>Tcg	p.P1170S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1170	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.P1170S(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCACAGGCGGGATCAGGTTC	0.597000														45			9		0	0	0.010729	0	0
HOMER1	9456	broad.mit.edu	37	5	78672020	78672020	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:78672020C>T	uc003kfy.3	-	9	1980	c.877_splice	c.e9-1	p.E293_splice	HOMER1_uc010jab.3_Splice_Site_p.R176_splice|HOMER1_uc010jac.3_Splice_Site_p.E163_splice|HOMER1_uc010jad.3_Splice_Site_p.E119_splice	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	293					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTACTTCCTTCAGAAAC	0.363000														43			10		0	0	0.006214	0	0
OSBPL3	26031	broad.mit.edu	37	7	24849512	24849512	+	Missense_Mutation	SNP	C	T	T	rs61756017	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:24849512C>T	uc003sxf.3	-	19	2636	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.G708E|OSBPL3_uc003sxh.3_Missense_Mutation_p.G713E|OSBPL3_uc003sxi.3_Missense_Mutation_p.G677E	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	744					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AACCGCTTTTCCACTCCTGTC	0.488000														124			42		0	0	0.010771	0	0
DGKZ	8525	broad.mit.edu	37	11	46393044	46393044	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:46393044G>A	uc001ncn.1	+	8	1339	c.1214G>A	c.(1213-1215)aGc>aAc	p.S405N	DGKZ_uc001nch.2_Missense_Mutation_p.S233N|DGKZ_uc010rgq.2_Missense_Mutation_p.S199N|DGKZ_uc010rgr.2_Missense_Mutation_p.S221N|DGKZ_uc001ncj.2_Missense_Mutation_p.S183N|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.S216N|DGKZ_uc001ncl.2_Missense_Mutation_p.S217N|DGKZ_uc009yky.1_Missense_Mutation_p.S217N|DGKZ_uc010rgs.1_Missense_Mutation_p.S194N	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	405					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAGTACCACAGCAAGGTGTCC	0.706000														36			14		0	0	0.002450	0	0
RORC	6097	broad.mit.edu	37	1	151787500	151787500	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:151787500C>T	uc001ezh.3	-	4	808	c.700G>A	c.(700-702)Gag>Aag	p.E234K	RORC_uc001ezg.3_Missense_Mutation_p.E213K|RORC_uc010pdo.2_Missense_Mutation_p.E288K|RORC_uc010pdp.2_Missense_Mutation_p.E234K	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	234	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGTGTTCCTCAAAACGAAGT	0.617000														34			8		0	0	0.003080	0	0
C14orf166B	145497	broad.mit.edu	37	14	77327179	77327179	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:77327179C>T	uc001xsx.2	+	10	1362	c.1248C>T	c.(1246-1248)atC>atT	p.I416I	C14orf166B_uc010asn.1_Silent_p.I176I|C14orf166B_uc001xsw.2_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	416										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGAAACTGATCCAGGTGAGCT	0.552000														50			8		0	0	0.006214	0	0
LARP1B	55132	broad.mit.edu	37	4	129035873	129035873	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:129035873T>C	uc003iga.3	+	9	1268	c.1137T>C	c.(1135-1137)caT>caC	p.H379H	LARP1B_uc003ifz.1_Silent_p.H379H|LARP1B_uc003igb.1_Silent_p.H94H	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	379							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAAAAAGACATCAGCCAGCCC	0.413000														47			7		0	0	0.001984	0	0
FSIP2	401024	broad.mit.edu	37	2	186697897	186697897	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:186697897C>T	uc002upl.3	+	22	20935	c.20935C>T	c.(20935-20937)Caa>Taa	p.Q6979*	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GGTGTTTTCTCAATGTAACAC	0.378000														31			4		0	0	0.014758	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54913059	54913059	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:54913059G>A	uc001sgc.4	+	15	1647	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	NCKAP1L_uc010sox.2_Missense_Mutation_p.R65Q|NCKAP1L_uc010soy.2_Missense_Mutation_p.R473Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	523					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTCCACTCCCGAATGCTGGAC	0.468000														59			13		0	0	0.013537	0	0
PLA2R1	22925	broad.mit.edu	37	2	160898553	160898553	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:160898553C>T	uc002ube.2	-	2	862	c.650G>A	c.(649-651)gGa>gAa	p.G217E	PLA2R1_uc010zcp.2_Missense_Mutation_p.G217E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G217E	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	217	Fibronectin type-II.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGGCAAAATCCCCACTTTTC	0.388000														71			17		0	0	0.010504	0	0
PDK4	5166	broad.mit.edu	37	7	95217039	95217039	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:95217039C>T	uc003uoa.3	-	8	1190	c.870_splice	c.e8+1	p.K290_splice	PDK4_uc003unz.3_Splice_Site_p.K78_splice	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	290	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GAATGGTTACCTTAATGGTAA	0.383000														33			4		0	0	0.009096	0	0
ANO4	121601	broad.mit.edu	37	12	101493497	101493497	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:101493497G>A	uc010svm.1	+	22	2721	c.2149_splice	c.e22+1	p.I717_splice	ANO4_uc001thw.2_Splice_Site_p.I682_splice|ANO4_uc001thx.2_Splice_Site_p.I717_splice|ANO4_uc001thy.2_Splice_Site_p.I237_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	717						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACTTAGAAATGAGTATGGAAA	0.348000										HNSCC(74;0.22)				27			6		0	0	0.001168	0	0
STL	7955	broad.mit.edu	37	6	125232112	125232112	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:125232112C>T	uc003pzq.3	-	6		c.2622G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		CGGCAAATTTCGACTGCTCCA	0.308000			T	ETV6	B-ALL									49			7		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768504	140768504	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:140768504C>T	uc003lkc.2	+	0	1053	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	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_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	356	Cadherin 4.				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)			AGTCTCTACCCAACCTAATTA	0.468000														49			10		0	0	0.008291	0	0
OR52B4	143496	broad.mit.edu	37	11	4388791	4388791	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:4388791G>A	uc010qye.2	-	0	826	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAGACATGGGAGCCAAATG	0.453000														63			15		0	0	0.003163	0	0
AKAP11	11215	broad.mit.edu	37	13	42873637	42873637	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:42873637C>T	uc001uys.2	+	7	930	c.755C>T	c.(754-756)tCa>tTa	p.S252L		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	252	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCAACTTCCTCAGTGAATGTC	0.423000														49			17		0	0	0.006122	0	0
OR51D1	390038	broad.mit.edu	37	11	4661144	4661144	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:4661144T>G	uc010qyk.2	+	0	200	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCTGGCTTTCCCACTGTG	0.517000														48			8		0	0	0.003080	0	0
FAM220A	84792	broad.mit.edu	37	7	6370657	6370657	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:6370657T>C	uc003spu.3	-	1	597	c.129A>G	c.(127-129)gcA>gcG	p.A43A	FAM220A_uc021zzf.1_Silent_p.A43A	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	43						nucleus											TCCAGGAGGGTGCATCTGCAG	0.547000														67			13		0	0	0.002450	0	0
NMBR	4829	broad.mit.edu	37	6	142396941	142396941	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:142396941G>A	uc003qiu.3	-	2	1158	c.1017C>T	c.(1015-1017)ctC>ctT	p.L339L		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	339					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCCACAGCAGAGTTGGCTGT	0.478000														74			31		0	0	0.005524	0	0
SP140	11262	broad.mit.edu	37	2	231155266	231155266	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:231155266G>A	uc002vql.3	+	18	1927	c.1812G>A	c.(1810-1812)aaG>aaA	p.K604K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Silent_p.K490K|SP140_uc002vqm.3_Silent_p.K544K|SP140_uc010fxl.3_Silent_p.K577K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	604	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TACATAAGAAGAAATTGCAGC	0.398000														44			8		0	0	0.004482	0	0
LGALS12	85329	broad.mit.edu	37	11	63276341	63276341	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:63276341C>T	uc001nxc.2	+	2	660	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	LGALS12_uc001nxa.2_Missense_Mutation_p.H106Y|LGALS12_uc001nxb.2_Missense_Mutation_p.H106Y|LGALS12_uc001nxd.2_Missense_Mutation_p.H45Y|LGALS12_uc001nxe.2_Missense_Mutation_p.H45Y|LGALS12_uc009yot.2_Missense_Mutation_p.H66Y	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	106	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			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						CACCAAGCCCCATGTCATCTG	0.607000														60			19		0	0	0.006122	0	0
IGDCC4	57722	broad.mit.edu	37	15	65676746	65676747	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:65676746_65676747CC>TT	uc002aou.1	-	19	3563_3564	c.3353_3354GG>AA	c.(3352-3354)agg>aAA	p.R1118K	IGDCC4_uc002aot.1_Missense_Mutation_p.R706K	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1118						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GTGACTTCTTCCTCCCATTGCC	0.515000														133			24		0	0	0.004672	0	0
C3P1	388503	broad.mit.edu	37	19	10157494	10157494	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:10157494C>T	uc010dwx.2	+	8		c.1328C>T								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GGAGGAAGTTCACTCTGCCAA	0.527000														64			17		0	0	0.012319	0	0
ARHGAP25	9938	broad.mit.edu	37	2	68962338	68962338	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:68962338C>T	uc010fdg.3	+	0	426	c.7C>T	c.(7-9)Cta>Tta	p.L3L	ARHGAP25_uc010yqk.2_Intron|ARHGAP25_uc010yql.2_Silent_p.L3L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	3					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAAATGTCCCTAAAATTGCC	0.433000														75			12		0	0	0.010729	0	0
ABCA12	26154	broad.mit.edu	37	2	215854056	215854056	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:215854056G>A	uc002vew.3	-	25	4046	c.3826C>T	c.(3826-3828)Cca>Tca	p.P1276S	ABCA12_uc002vev.3_Missense_Mutation_p.P958S|ABCA12_uc010zjn.2_Missense_Mutation_p.P203S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1276					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCATACCTGGGAAGACATTC	0.348000														24			10		0	0	0.010729	0	0
NYAP2	57624	broad.mit.edu	37	2	226273743	226273743	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:226273743G>A	uc002voe.2	+	1	322	c.147G>A	c.(145-147)ttG>ttA	p.L49L	NYAP2_uc010fxa.1_Silent_p.L44L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	49																	ATGATCGCTTGAGAAATGAAA	0.373000														37			7		0	0	0.001984	0	0
BPTF	2186	broad.mit.edu	37	17	65850295	65850295	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:65850295G>A	uc002jgf.3	+	1	914	c.853G>A	c.(853-855)Gag>Aag	p.E285K	BPTF_uc002jge.3_Missense_Mutation_p.E285K|BPTF_uc010wqm.1_Missense_Mutation_p.E285K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	285	DDT.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACTCATGGCAGAGATGCATGT	0.458000														89			24		0	0	0.014323	0	0
ZPLD1	131368	broad.mit.edu	37	3	102153975	102153975	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:102153975C>T	uc003dvt.1	+	0	117	c.17C>T	c.(16-18)tCc>tTc	p.S6F	ZPLD1_uc003dvs.1_Intron|ZPLD1_uc011bhg.1_5'UTR	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	0						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CTCAGGTTTTCCATGTGCAGG	0.378000														38			8		0	0	0.010729	0	0
MUC16	94025	broad.mit.edu	37	19	9057290	9057290	+	Silent	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9057290T>G	uc002mkp.3	-	2	30360	c.30156A>C	c.(30154-30156)tcA>tcC	p.S10052S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10054	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						GGGTGAGGAGTGAAGTCACAG	0.483000														37			9		0	0	0.006214	0	0
FAM135B	51059	broad.mit.edu	37	8	139164014	139164014	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:139164014C>T	uc003yuy.3	-	12	2875	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	FAM135B_uc003yux.3_Missense_Mutation_p.E803K|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.E464K|FAM135B_uc003yvb.3_Missense_Mutation_p.E464K	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	902										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)			TTTGGGGTTTCCTCAAGTGCT	0.473000										HNSCC(54;0.14)				82			22		0	0	0.003954	0	0
ODZ4	26011	broad.mit.edu	37	11	78413133	78413134	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:78413133_78413134CC>TT	uc001ozl.4	-	27	4987_4988	c.4524_4525GG>AA	c.(4522-4527)ggggcc>ggAAcc	p.A1509T		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1509					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCACTGGGGGCCCCAGCAACGA	0.465000														14			6		0	0	0.004672	0	0
NXF1	10482	broad.mit.edu	37	11	62563933	62563934	+	Splice_Site	DNP	GG	AT	AT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:62563933_62563934GG>AT	uc001nvf.1	-	14	1422	c.1286_splice	c.e14+1	p.R429_splice	NXF1_uc001nvg.1_Splice_Site|NXF1_uc009yog.1_Splice_Site_p.R472_splice	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	429	NTF2.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATACTAACCGGGCAGGGTTCT	0.559000														64			22		0	0	0.004672	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607447	31607447	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:31607447C>T	uc002wyj.3	+	10	1165	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	324						extracellular region	lipid binding										GGTGCCACACCTGTGGCCATG	0.672000														38			16		0	0	0.004990	0	0
JMJD6	23210	broad.mit.edu	37	17	74714855	74714856	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:74714855_74714856AG>CA	uc002jso.3	-	5	1491_1492	c.1167_1168CT>TG	c.(1165-1170)acctcc>acTGcc	p.S390A	JMJD6_uc002jsn.1_Missense_Mutation_p.S390A	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	390					RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCGTCCTGGGAGGTGGTGTCCC	0.629000														63			4		0	0	0.004672	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316491	30316491	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:30316491A>T	uc009xle.2	-	2	2723	c.2586T>A	c.(2584-2586)agT>agA	p.S862R	KIAA1462_uc001iux.3_Missense_Mutation_p.S862R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.S724R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	862	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCTCCGCCTCACTCTCCTCAc	0.567000														66			19		0	0	0.007413	0	0
AP2A2	161	broad.mit.edu	37	11	985475	985475	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:985475C>T	uc001lst.2	+	7	1071	c.858C>T	c.(856-858)acC>acT	p.T286T	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.T285T	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	285					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCTGGAGACCATCCTGAACA	0.602000														81			10		0	0	0.006214	0	0
DENND1A	57706	broad.mit.edu	37	9	126319965	126319965	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:126319965G>A	uc011lzm.1	-	10	995	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Silent_p.L110L|DENND1A_uc004bnz.1_Silent_p.L293L|DENND1A_uc004boa.1_Silent_p.L293L|DENND1A_uc004bob.1_Silent_p.L263L|DENND1A_uc004boc.3_Silent_p.L261L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	293	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGTTCTTCAGGGAAGAGATC	0.537000														22			7		0	0	0.003080	0	0
IZUMO2	126123	broad.mit.edu	37	19	50657857	50657857	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:50657857G>A	uc002prp.1	-	6	710	c.623_splice	c.e6+1	p.S208_splice		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	Homo sapiens IZUMO family member 2 (IZUMO2), mRNA.	208						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GATGACTCACGAGACCACGAT	0.567000														37			7		0	0	0.001984	0	0
GALNT8	26290	broad.mit.edu	37	12	4829912	4829912	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:4829912C>T	uc001qne.1	+	0	161	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	23						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L23F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGTCAATCTCCTTCTGGTAT	0.507000														72			19		0	0	0.010504	0	0
IDO2	169355	broad.mit.edu	37	8	39872851	39872851	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:39872851G>A	uc010lwy.1	+	10	1235	c.993G>A	c.(991-993)agG>agA	p.R331R	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Silent_p.R72R|IDO2_uc003xnp.1_Silent_p.R72R	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	318					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTTCCCTGAGGGACTACATCC	0.498000														36			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179439727	179439727	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179439727A>G	uc021vsy.1	-	274	63653	c.63428T>C	c.(63427-63429)aTt>aCt	p.I21143T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I14838T|TTN_uc021vta.1_Missense_Mutation_p.I14771T|TTN_uc021vtb.1_Missense_Mutation_p.I14646T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22070	Fibronectin type-III 53.						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)			CTCTCCTACAATGTTCCTTGC	0.403000														36			3		0	0	0.004672	0	0
FRAS1	80144	broad.mit.edu	37	4	79236774	79236774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:79236774G>A	uc003hlb.2	+	15	2145	c.1705G>A	c.(1705-1707)Ggc>Agc	p.G569S	FRAS1_uc003hkw.3_Missense_Mutation_p.G569S|FRAS1_uc003hky.1_Missense_Mutation_p.G273S|FRAS1_uc003hkz.3_Missense_Mutation_p.G273S|FRAS1_uc003hla.1_Missense_Mutation_p.G80S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	569					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGACAGTTGTGGCCCCAGTAG	0.488000														114			21		0	0	0.014323	0	0
HYDIN	54768	broad.mit.edu	37	16	71212830	71212830	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:71212830C>T	uc002ezr.3	-	4	532	c.381_splice	c.e4+1	p.K127_splice	HYDIN_uc010cfz.2_Splice_Site|HYDIN_uc021tkq.1_Splice_Site_p.K127_splice|HYDIN_uc010vmc.2_Splice_Site_p.K144_splice|HYDIN_uc010vmd.2_Splice_Site_p.K154_splice|HYDIN_uc002ezw.4_Splice_Site_p.K144_splice	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	127										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AACATACTCACTTTGTCATTG	0.378000														92			26		0	0	0.010818	0	0
PTPRC	5788	broad.mit.edu	37	1	198711437	198711437	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:198711437G>A	uc001gur.1	+	24	2812	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N	PTPRC_uc001gut.1_Missense_Mutation_p.D717N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	878	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACAAAGTGGATGTTTATGG	0.438000														92			23		0	0	0.012319	0	0
KLC2	64837	broad.mit.edu	37	11	66030323	66030323	+	Missense_Mutation	SNP	G	A	A	rs140572929		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:66030323G>A	uc010rov.1	+	4	811	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	KLC2_uc010row.1_Missense_Mutation_p.G190R|KLC2_uc001ohb.2_Missense_Mutation_p.G190R|KLC2_uc010rox.1_Missense_Mutation_p.G113R|KLC2_uc001ohc.2_Missense_Mutation_p.G190R|KLC2_uc001ohd.2_Missense_Mutation_p.G113R|KLC2_uc001ohe.1_Missense_Mutation_p.G51R	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	190					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGTCAGCATGGGGGCTACGA	0.637000														97			15		0	0	0.004990	0	0
CDK14	5218	broad.mit.edu	37	7	90747450	90747450	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:90747450G>A	uc003uky.2	+	13	1587	c.1365G>A	c.(1363-1365)ggG>ggA	p.G455G	CDK14_uc003ukz.1_Silent_p.G437G|CDK14_uc010les.1_Silent_p.G409G|CDK14_uc011khl.1_Silent_p.G326G	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	455					G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GGGCCTTTGGGAAAAACAATA	0.418000														48			5		0	0	0.014758	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112978	39112978	+	Silent	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:39112978C>G	uc003awg.3	+	3	961	c.807C>G	c.(805-807)ggC>ggG	p.G269G		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	269					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GCATGACAGGCCATCTGCCTG	0.537000														54			11		0	0	0.010729	0	0
DHFRL1	200895	broad.mit.edu	37	3	93780104	93780104	+	Silent	SNP	T	A	A	rs148600595		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:93780104T>A	uc003dri.3	-	1	589	c.252A>T	c.(250-252)ccA>ccT	p.P84P	DHFRL1_uc003drj.3_Silent_p.P84P|DHFRL1_uc021xbk.1_Silent_p.P84P|NSUN3_uc003drk.3_5'Flank|NSUN3_uc003drl.1_5'Flank	NM_176815	NP_789785	Q86XF0	DYRL1_HUMAN	Homo sapiens dihydrofolate reductase-like 1 (DHFRL1), transcript variant 2, mRNA.	84	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		NADP binding|dihydrofolate reductase activity	p.P83A(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						GAGCTCCTTGTGGAGGTTCCT	0.393000														74			23		0	0	0.012319	0	0
SLC38A4	55089	broad.mit.edu	37	12	47181792	47181792	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:47181792C>T	uc001rpi.2	-	4	632	c.233G>A	c.(232-234)gGa>gAa	p.G78E	SLC38A4_uc001rpj.2_Missense_Mutation_p.G78E|SLC38A4_uc009zkl.2_Missense_Mutation_p.G78E	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	78					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGAAGACATTCCAAAGGAAGT	0.428000														41			8		0	0	0.006214	0	0
TTC37	9652	broad.mit.edu	37	5	94852915	94852915	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:94852915G>A	uc003klb.3	-	20	2523	c.2226C>T	c.(2224-2226)gtC>gtT	p.V742V		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	742							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						GACCTAGAAGGACTCCTAAAA	0.423000														30			5		0	0	0.001168	0	0
SDAD1	55153	broad.mit.edu	37	4	76879014	76879014	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:76879014C>T	uc003hje.4	-	17	1683	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	SDAD1_uc003hjf.4_Missense_Mutation_p.E425K|SDAD1_uc011cbr.2_Missense_Mutation_p.E485K	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	522					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTTGCTGTTCTTCATCGGAA	0.408000														204			49		0	0	0.014410	0	0
abParts	0	broad.mit.edu	37	2	90199105	90199105	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:90199105C>T	uc010yts.2	+	35		c.4499C>T								Parts of antibodies, mostly variable regions.																		GGCAGTGGATCTGGGACAGAT	0.502000														117			22		0	0	0.005443	0	0
RTTN	25914	broad.mit.edu	37	18	67742728	67742728	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:67742728G>A	uc002lkp.2	-	32	4492	c.4424C>T	c.(4423-4425)cCt>cTt	p.P1475L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Missense_Mutation_p.P563L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1475							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTGAAGGGCAGGTTTTCCAAT	0.408000														67			18		0	0	0.008871	0	0
GALNT8	26290	broad.mit.edu	37	12	4829980	4829980	+	Missense_Mutation	SNP	C	T	T	rs150045663	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:4829980C>T	uc001qne.1	+	0	229	c.137C>T	c.(136-138)cCt>cTt	p.P46L		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	46						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGGGAGCTTCCTTTACATCTG	0.468000														73			20		0	0	0.012319	0	0
NGEF	25791	broad.mit.edu	37	2	233756070	233756070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:233756070G>A	uc002vts.2	-	7	1518	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	NGEF_uc010zmm.1_Nonsense_Mutation_p.Q147*|NGEF_uc010fyg.1_Nonsense_Mutation_p.Q332*	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	424	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGCTGTACCTGGACCAACAGC	0.602000														79			20		0	0	0.014323	0	0
TNXB	7148	broad.mit.edu	37	6	32024618	32024618	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:32024618G>A	uc003nzl.2	-	22	8090	c.7888C>T	c.(7888-7890)Cgc>Tgc	p.R2630C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2690	Fibronectin type-III 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCCCCAGGCGAGGCTTGATG	0.622000														752			146		0	0	0.014410	0	0
GRB14	2888	broad.mit.edu	37	2	165353901	165353901	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:165353901C>T	uc002ucl.3	-	9	1745	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	GRB14_uc010zcv.2_Missense_Mutation_p.E315K	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	402					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GCGAGTCCTTCTTCAACCGCA	0.403000														82			16		0	0	0.007413	0	0
MRO	83876	broad.mit.edu	37	18	48333212	48333212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:48333212C>T	uc010dpa.3	-	2	299	c.150G>A	c.(148-150)tgG>tgA	p.W50*	MRO_uc010xdn.2_Nonsense_Mutation_p.W36*|MRO_uc002lew.4_Nonsense_Mutation_p.W36*|MRO_uc010dpb.3_Nonsense_Mutation_p.W50*|MRO_uc010dpc.3_Nonsense_Mutation_p.W36*|MRO_uc002lex.4_Nonsense_Mutation_p.W36*	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	36						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		ACCTCAGTTTCCAAGAGACCT	0.468000														108			18		0	0	0.008871	0	0
TRHDE	29953	broad.mit.edu	37	12	73012725	73012725	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:73012725G>A	uc001sxa.3	+	12	2271	c.2241G>A	c.(2239-2241)gaG>gaA	p.E747E		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	747					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.E747K(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTGTCTGAGGAGAAGGATT	0.388000														60			12		0	0	0.010729	0	0
DNAH5	1767	broad.mit.edu	37	5	13885104	13885104	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:13885104A>C	uc003jfd.2	-	18	3019	c.2977T>G	c.(2977-2979)Ttc>Gtc	p.F993V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	993	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTACCCCGGAAGTTAATTGTG	0.443000									Kartagener syndrome					66			16		0	0	0.008871	0	0
IL3RA	3563	broad.mit.edu	37	X	1464208	1464208	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:1464208G>A	uc004cps.3	+	3	414	c.65_splice	c.e3-1	p.D22_splice	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	22						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CACCGTTTTAGATCCAAACCC	0.428000														171			47		0	0	0.014410	0	0
C19orf75	284369	broad.mit.edu	37	19	51771825	51771825	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:51771825G>A	uc002pwb.1	+	6	949	c.568_splice	c.e6-1	p.E190_splice	C19orf75_uc010eov.1_Splice_Site|C19orf75_uc010ycw.1_Splice_Site_p.E96_splice	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	190						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						TCGCTTTCAGGAAAAGCAAGA	0.428000														44			7		0	0	0.006214	0	0
OR13C5	138799	broad.mit.edu	37	9	107361077	107361077	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:107361077G>A	uc011lvp.2	-	0	618	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GTGTCAATAGGAACAATGTTG	0.398000														79			15		0	0	0.002450	0	0
DNAH10	196385	broad.mit.edu	37	12	124337761	124337761	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:124337761G>A	uc001uft.4	+	34	5971	c.5946G>A	c.(5944-5946)gcG>gcA	p.A1982A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1982	AAA 1 (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)		AGACTCTGGCGAAAAAGATGA	0.403000														4			5		0	0	0.014758	0	0
NOX3	50508	broad.mit.edu	37	6	155774610	155774610	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:155774610G>A	uc003qqm.3	-	3	371	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	90	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTCCTCCACGGTCCTCTGCAG	0.383000														185			32		0	0	0.005524	0	0
ABCC11	85320	broad.mit.edu	37	16	48248827	48248827	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:48248827G>A	uc002eff.1	-	7	1563	c.1213C>T	c.(1213-1215)Cac>Tac	p.H405Y	ABCC11_uc002efg.1_Missense_Mutation_p.H405Y|ABCC11_uc002efh.1_Missense_Mutation_p.H405Y|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	405	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGATGTGTGGATGAGAACC	0.483000														36			8		0	0	0.004482	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930700	133930700	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:133930700G>A	uc001lkx.4	+	1	255	c.255G>A	c.(253-255)aaG>aaA	p.K85K		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGAAGATGAAGGAGCTACAGG	0.592000														43			8		0	0	0.003080	0	0
ALPK2	115701	broad.mit.edu	37	18	56246599	56246599	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:56246599C>T	uc002lhj.4	-	3	1623	c.1409G>A	c.(1408-1410)aGa>aAa	p.R470K		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	470							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTGGCTGTCTCTGGTTTCTCC	0.473000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			27		0	0	0.004656	0	0
GDPD4	220032	broad.mit.edu	37	11	76982231	76982231	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:76982231A>C	uc001oyf.3	-	5	595	c.344T>G	c.(343-345)gTg>gGg	p.V115G		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	115					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATAACCATCACAGTTATGCT	0.488000														40			14		0	0	0.004007	0	0
VTCN1	79679	broad.mit.edu	37	1	117695729	117695729	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:117695729C>T	uc001ehb.3	-	3	813	c.708G>A	c.(706-708)ggG>ggA	p.G236G	VTCN1_uc021osn.1_Silent_p.G141G|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Silent_p.G141G|VTCN1_uc009whf.2_Silent_p.G120G	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	236	Ig-like V-type 2.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CTTTGATATCCCCTGTTGCTT	0.358000														92			22		0	0	0.016522	0	0
STC1	6781	broad.mit.edu	37	8	23702445	23702445	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:23702445G>A	uc003xdw.1	-	3	866	c.582C>T	c.(580-582)ttC>ttT	p.F194F		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	194					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.L193F(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GCAGGATGTGGAAGAGGCTGG	0.532000														74			14		0	0	0.003163	0	0
COL3A1	1281	broad.mit.edu	37	2	189870087	189870087	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:189870087G>A	uc002uqj.1	+	40	3060	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	981	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G981G(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GTGAAAGTGGGAAACCAGGAG	0.428000														84			20		0	0	0.016522	0	0
DOCK2	1794	broad.mit.edu	37	5	169410162	169410162	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:169410162G>A	uc003maf.3	+	27	2970	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E456K|FAM196B_uc003mag.2_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	964	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCAGCTCTGAACTTGTGGT	0.502000														89			27		0	0	0.006320	0	0
DCTN1	1639	broad.mit.edu	37	2	74593086	74593086	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:74593086G>A	uc002skx.3	-	23	3138	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.G806G|DCTN1_uc002sku.3_Silent_p.G806G|DCTN1_uc002skw.2_Silent_p.G933G|DCTN1_uc010ffd.3_Silent_p.G920G|DCTN1_uc002sky.3_Silent_p.G903G	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	940					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAAACCCAGGCCTTCAGCAT	0.537000														89			25		0	0	0.004656	0	0
SCN10A	6336	broad.mit.edu	37	3	38766673	38766673	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:38766673G>A	uc003ciq.3	-	16	3220	c.3220C>T	c.(3220-3222)Cct>Tct	p.P1074S		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1074					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCTCAGCAGGGACCTGAGGA	0.607000														37			9		0	0	0.010729	0	0
TUBD1	51174	broad.mit.edu	37	17	57955542	57955542	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:57955542G>A	uc002ixw.2	-	4	979	c.691C>T	c.(691-693)Ctc>Ttc	p.L231F	TUBD1_uc010wok.2_Missense_Mutation_p.L231F|TUBD1_uc010ddf.2_Missense_Mutation_p.L231F|TUBD1_uc010wol.2_Missense_Mutation_p.L15F|TUBD1_uc010ddg.2_Missense_Mutation_p.L196F|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_Missense_Mutation_p.L112F|TUBD1_uc002ixx.2_Missense_Mutation_p.L231F	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	231					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TGATGTGCGAGGACTTGATTG	0.423000														39			9		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857498	9857498	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:9857498C>T	uc010uym.2	-	13	4213	c.3903G>A	c.(3901-3903)gaG>gaA	p.E1301E	GRIN2A_uc002czo.4_Silent_p.E1301E|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1301					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAAGGTCTAGCTCCCTAGGTT	0.502000														99			12		0	0	0.001855	0	0
AQP2	359	broad.mit.edu	37	12	50349325	50349325	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:50349325G>A	uc001rvn.3	+	3	840	c.750G>A	c.(748-750)gaG>gaA	p.E250E		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	250					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						AGGAGCGCGAGGTGCGACGGC	0.697000														26			7		0	0	0.001984	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530615	5530615	+	Silent	SNP	G	A	A	rs139187349		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:5530615G>A	uc021qcw.1	-	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Silent_p.P58P	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	58	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGCTGATCGGGGTGGGCCT	0.507000														106			30		0	0	0.012213	0	0
ANKRD22	118932	broad.mit.edu	37	10	90583082	90583082	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:90583082G>A	uc001kfj.4	-	4	821	c.453C>T	c.(451-453)atC>atT	p.I151I		NM_144590	NP_653191	Q5VYY1	ANR22_HUMAN	Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA.	151										NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10		Colorectal(252;0.0163)		Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05)		AGAGCAGAGGGATAAGAGACT	0.488000														109			22		0	0	0.003954	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000														36			3		0	0	0.004672	0	0
MAGI1	9223	broad.mit.edu	37	3	65415693	65415693	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:65415693G>A	uc003dmn.3	-	11	2195	c.1669C>T	c.(1669-1671)Cca>Tca	p.P557S	MAGI1_uc003dmm.3_Missense_Mutation_p.P557S|MAGI1_uc003dmo.3_Missense_Mutation_p.P557S|MAGI1_uc003dmp.3_Missense_Mutation_p.P557S|MAGI1_uc010hny.2_Missense_Mutation_p.P442S	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	557					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGCAATGGATAACCTCGG	0.463000														50			9		0	0	0.006214	0	0
TYW1	55253	broad.mit.edu	37	7	66489949	66489949	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:66489949A>G	uc003tvn.3	+	6	1073	c.924A>G	c.(922-924)ctA>ctG	p.L308L	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	308					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATCAGAGCCTAAATTCCATTG	0.428000														77			20		0	0	0.014323	0	0
ASTN2	23245	broad.mit.edu	37	9	119770528	119770528	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:119770528G>A	uc004bjt.2	-	5	1382	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ASTN2_uc022bml.1_Silent_p.F127F|ASTN2_uc022bmm.1_Silent_p.F127F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	478						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCACGAAGCTGCTTC	0.502000														47			8		0	0	0.006214	0	0
MCTP2	55784	broad.mit.edu	37	15	95013586	95013586	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:95013586C>T	uc002btj.3	+	19	2450	c.2385C>T	c.(2383-2385)ttC>ttT	p.F795F	MCTP2_uc010boj.3_Silent_p.F524F|MCTP2_uc010bok.3_Silent_p.F740F|MCTP2_uc002btl.3_Silent_p.F383F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	795					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CGGTCCCCTTCCTTTCATCTC	0.408000														89			16		0	0	0.004990	0	0
C20orf132	140699	broad.mit.edu	37	20	35738679	35738679	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:35738679C>T	uc010zvu.2	-	22	2985	c.2894G>A	c.(2893-2895)aGa>aAa	p.R965K	C20orf132_uc002xgk.3_Missense_Mutation_p.R597K	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0								p.F965S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				GACTGCTGATCTTCTGATGGG	0.378000														121			54		0	0	0.014410	0	0
PEG3	5178	broad.mit.edu	37	19	57333026	57333026	+	Missense_Mutation	SNP	C	T	T	rs138565582	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:57333026C>T	uc002qnu.2	-	3	1013	c.662G>A	c.(661-663)cGa>cAa	p.R221Q	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.R96Q|PEG3_uc010etp.2_Missense_Mutation_p.R96Q|PEG3_uc010ygs.1_Missense_Mutation_p.R96Q|PEG3_uc002qnq.2_Missense_Mutation_p.R96Q|PEG3_uc002qnt.2_Missense_Mutation_p.R222Q|PEG3_uc002qnv.2_Missense_Mutation_p.R221Q|PEG3_uc002qnw.2_Missense_Mutation_p.R96Q|PEG3_uc002qnx.2_Missense_Mutation_p.R95Q|PEG3_uc010etr.2_Missense_Mutation_p.R221Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	221					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S220F(1)|p.R221R(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACCTGAGATCGGGACTCATA	0.527000														114			26		0	0	0.005443	0	0
C8B	732	broad.mit.edu	37	1	57415272	57415272	+	Nonsense_Mutation	SNP	G	A	A	rs140813121	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:57415272G>A	uc001cyp.3	-	5	887	c.820C>T	c.(820-822)Cga>Tga	p.R274*	C8B_uc010oon.2_Nonsense_Mutation_p.R212*|C8B_uc010ooo.2_Nonsense_Mutation_p.R222*	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	274	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGTTTGCCTCGATCACTTTGA	0.363000														35			6		0	0	0.001168	0	0
SCAND3	114821	broad.mit.edu	37	6	28541016	28541016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:28541016C>T	uc003nlo.3	-	3	3268	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	884					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcttccatatcattagccagt	0.368000														117			10		0	0	0.010729	0	0
NPTXR	23467	broad.mit.edu	37	22	39219206	39219206	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:39219206G>A	uc003awk.3	-	3	1314	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	387	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					ATCCCTTGTGGTCCAGGCGAT	0.647000														47			10		0	0	0.010729	0	0
DTX4	23220	broad.mit.edu	37	11	58962779	58962779	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:58962779C>T	uc001nns.2	+	6	1730	c.1473C>T	c.(1471-1473)tcC>tcT	p.S491S	DTX4_uc001nnr.2_Silent_p.S385S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	491					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				TCCCCCACTCCTTGCCTGGCC	0.562000														34			16		0	0	0.004990	0	0
DIRC1	116093	broad.mit.edu	37	2	189599568	189599568	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:189599568G>A	uc021vtu.1	-	0	80	c.80C>T	c.(79-81)tCc>tTc	p.S27F	DIRC1_uc002uqi.1_Missense_Mutation_p.S27F	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	Homo sapiens disrupted in renal carcinoma 1 (DIRC1), mRNA.	27										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CAAGTAACAGGAAACAGGCTT	0.532000														52			17		0	0	0.004990	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079577	34079577	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:34079577G>A	uc002hjv.2	-	0	321	c.293C>T	c.(292-294)tCc>tTc	p.S98F		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	98	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCCATTGCAGGAGACCCCGAC	0.612000														97			24		0	0	0.003330	0	0
ZBBX	79740	broad.mit.edu	37	3	167083673	167083673	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:167083673C>T	uc011bpc.2	-	6	610	c.273_splice	c.e6+1	p.K91_splice	ZBBX_uc003feq.3_Splice_Site_p.K62_splice|ZBBX_uc003fep.3_Splice_Site_p.K91_splice	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	91						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATCTTCTTACCTTAACAACA	0.303000														26			9		0	0	0.006214	0	0
SLC35B4	84912	broad.mit.edu	37	7	133986839	133986839	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:133986839G>A	uc003vrn.3	-	4	692	c.368C>T	c.(367-369)tCc>tTc	p.S123F	SLC35B4_uc010lmk.3_5'UTR|SLC35B4_uc003vro.4_Missense_Mutation_p.S123F	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	123						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						CAGGGCAATGGAGGTATATTT	0.343000														92			18		0	0	0.007413	0	0
MAP4	4134	broad.mit.edu	37	3	47896788	47896788	+	Missense_Mutation	SNP	C	T	T	rs148356137		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:47896788C>T	uc003csb.2	-	16	3737	c.3211G>A	c.(3211-3213)Gtg>Atg	p.V1071M	MAP4_uc003csc.3_Missense_Mutation_p.V1071M|MAP4_uc003crw.2_Missense_Mutation_p.V150M|MAP4_uc003crx.2_Missense_Mutation_p.V247M|MAP4_uc011bbe.1_Missense_Mutation_p.V784M|MAP4_uc003csa.3_Missense_Mutation_p.V737M|MAP4_uc003crz.4_Non-coding_Transcript	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	1071					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AGGGATCCCACCTTGGCCTGG	0.557000														111			21		0	0	0.004656	0	0
CCDC158	339965	broad.mit.edu	37	4	77324294	77324294	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:77324294C>T	uc003hkb.4	-	1	220	c.67G>A	c.(67-69)Gga>Aga	p.G23R	CCDC158_uc003hkd.3_Missense_Mutation_p.G23R	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	23										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						CACATACCTCCATTAGATGTG	0.294000														23			10		0	0	0.008291	0	0
GH2	2689	broad.mit.edu	37	17	61958081	61958081	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:61958081C>T	uc002jcl.1	-	3	569	c.507G>A	c.(505-507)agG>agA	p.R169R	GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron	NM_022557	NP_072051	P01242	SOM2_HUMAN	Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA.	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						CTCCCCAGTCCCTGGAAGCCA	0.577000														89			22		0	0	0.016522	0	0
MGAM	8972	broad.mit.edu	37	7	141752214	141752214	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:141752214G>A	uc003vwy.3	+	24	2980	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	976	P-type 2.				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)	TGCTTCTGCCGAAAACTGCAC	0.453000														31			7		0	0	0.003080	0	0
CDH9	1007	broad.mit.edu	37	5	26881640	26881640	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:26881640A>G	uc003jgs.1	-	11	2144	c.1975T>C	c.(1975-1977)Tac>Cac	p.Y659H	CDH9_uc011cnv.1_Missense_Mutation_p.Y252H	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	659					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T658T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCATCGTTGTAGGTCACAATG	0.423000														130			19		0	0	0.010504	0	0
C3	718	broad.mit.edu	37	19	6685057	6685057	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:6685057C>T	uc002mfm.3	-	29	3973	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1304		Cleavage; by factor I.			G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATCTTGGAGCTGCGGCTGGG	0.582000														31			6		0	0	0.001984	0	0
IFT172	26160	broad.mit.edu	37	2	27676582	27676582	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:27676582G>T	uc002rku.3	-	33	3787	c.3736C>A	c.(3736-3738)Ctg>Atg	p.L1246M	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1246					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGATGCGCAGAGCGTCACTC	0.582000														47			14		3.99206e-14	4.12006e-14	0.007413	1	0
CACNG3	10368	broad.mit.edu	37	16	24373037	24373037	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:24373037C>T	uc002dmf.3	+	3	2003	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	267					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGTTCACCCTCTCCCGGGACC	0.567000														95			19		0	0	0.012319	0	0
CD53	963	broad.mit.edu	37	1	111439353	111439353	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:111439353G>A	uc001dzw.3	+	6	673	c.502G>A	c.(502-504)Gag>Aag	p.E168K	CD53_uc001dzx.3_Missense_Mutation_p.E168K|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	168					signal transduction	integral to membrane|plasma membrane		p.V167E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		TCGAAAAGTGGAGGTAATTTT	0.438000														79			12		0	0	0.010729	0	0
ATP11A	23250	broad.mit.edu	37	13	113516853	113516853	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:113516853C>T	uc001vsj.4	+	24	3043	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F	ATP11A_uc001vsi.4_Silent_p.F985F|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	985					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GTGCTTATTTCGTGTTTGAAA	0.522000														32			16		0	0	0.003163	0	0
OTOF	9381	broad.mit.edu	37	2	26703111	26703111	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	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														82			13		0	0	0.003163	0	0
ADCK4	79934	broad.mit.edu	37	19	41211268	41211268	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:41211268C>T	uc002oor.2	-	5	754	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ADCK4_uc002ooq.2_Intron|ADCK4_uc002oos.2_Missense_Mutation_p.G151E	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	151						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GAGGGCGGCCCCTCGAACTGT	0.612000														49			11		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	106586347	106586347	+	RNA	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:106586347G>A	uc021ser.1	-	1811		c.33949C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TACTGAAGGTGAATCCAGAGG	0.567000														91			19		0	0	0.007413	0	0
ZMYM6	9204	broad.mit.edu	37	1	35476593	35476593	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:35476593G>A	uc001byh.3	-	8	1335	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P	ZMYM6_uc001byf.1_Silent_p.P369P|ZMYM6_uc010oht.2_Silent_p.P272P|ZMYM6_uc009vup.3_Silent_p.P175P|ZMYM6_uc009vuq.1_Silent_p.P369P|ZMYM6_uc009vur.1_Silent_p.P175P	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	369					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCTGAGACAGGGGCACCGCCG	0.473000														48			12		0	0	0.013537	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981989	61981989	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:61981989G>A	uc002yes.2	-	4	952	c.774C>T	c.(772-774)tcC>tcT	p.S258S	CHRNA4_uc002yet.1_Silent_p.S82S|CHRNA4_uc010gke.1_Silent_p.S187S|CHRNA4_uc002yev.1_Silent_p.S82S|CHRNA4_uc010gkf.1_Silent_p.S82S	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	258					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.S258C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGGTGAGGCAGGAGATGAGCA	0.602000														44			27		0	0	0.008361	0	0
PCDH19	57526	broad.mit.edu	37	X	99662260	99662260	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:99662260C>T	uc010nmz.3	-	0	3012	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	PCDH19_uc004efw.4_Missense_Mutation_p.E446K|PCDH19_uc004efx.4_Missense_Mutation_p.E446K	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	446	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTGTCATTTTCGTCAGTGATG	0.572000														47			25		0	0	0.003330	0	0
PIWIL2	55124	broad.mit.edu	37	8	22140749	22140749	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:22140749G>A	uc003xbn.2	+	4	776	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	PIWIL2_uc011kzf.1_Missense_Mutation_p.E210K|PIWIL2_uc010ltv.2_Missense_Mutation_p.E210K	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	210					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GGAACACAAGGAAAAGTAAGT	0.522000														31			7		0	0	0.001984	0	0
LRP1	4035	broad.mit.edu	37	12	57570871	57570871	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:57570871G>A	uc001snd.3	+	24	4505	c.4039G>A	c.(4039-4041)Gag>Aag	p.E1347K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1347					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.E1347K(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCACACCCGAGGGCCTGGC	0.582000														103			25		0	0	0.003954	0	0
TYK2	7297	broad.mit.edu	37	19	10464889	10464889	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:10464889A>G	uc002moc.4	-	19	3115	c.2737T>C	c.(2737-2739)Ttg>Ctg	p.L913L	TYK2_uc010dxe.3_Silent_p.L728L	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	913	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TAGCAGTACAAGCTGACCTTG	0.657000														68			24		0	0	0.003330	0	0
TTLL4	9654	broad.mit.edu	37	2	219617597	219617597	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:219617597C>A	uc002viy.3	+	16	3458	c.3088C>A	c.(3088-3090)Cat>Aat	p.H1030N	TTLL4_uc010zkl.1_Missense_Mutation_p.H865N|TTLL4_uc010fvx.3_Missense_Mutation_p.H966N|TTLL4_uc010zkm.1_Missense_Mutation_p.H233N	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1030					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TTTTCCTTCTCATATCTCCTC	0.448000														107			26		4.7796e-09	4.90338e-09	0.004656	1	0
NEU3	10825	broad.mit.edu	37	11	74717525	74717525	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:74717525C>T	uc001ovw.3	+	2	1530	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	NEU3_uc001ovv.3_Silent_p.F448F|NEU3_uc010rrl.2_Silent_p.F349F|DQ592682_uc001ovx.1_5'Flank	NM_006656	NP_006647	A8K327	A8K327_HUMAN	Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA.	458										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAAGCCAATTCAAAAGCAATT	0.468000														83			20		0	0	0.014323	0	0
RGS18	64407	broad.mit.edu	37	1	192128357	192128357	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:192128357G>A	uc001gsg.3	+	1	303	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	43					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGCTAAGGAAAAAAGAAA	0.393000														20			8		0	0	0.004482	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711814	155711814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:155711814C>T	uc002tyv.1	+	2	1690	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	499					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R499G(2)|p.R499L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GAACTCTGATCGCTTCACATA	0.408000														17			5		0	0	0.014758	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41735146	41735146	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:41735146C>T	uc003azw.3	+	8	983	c.767C>T	c.(766-768)tCa>tTa	p.S256L		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	272					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	p.S256*(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GATGACTTCTCAGACGGGGAT	0.657000														58			11		0	0	0.008291	0	0
CYP2D6	1565	broad.mit.edu	37	22	42523897	42523897	+	Missense_Mutation	SNP	G	A	A	rs1135830		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:42523897G>A	uc003bce.3	-	5	1022	c.932C>T	c.(931-933)tCg>tTg	p.S311L	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.S5L|CYP2D6_uc003bcf.3_Missense_Mutation_p.S260L	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	311							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCGTGGTCGAGGTGGTCAC	0.617000														75			19		0	0	0.008871	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458193	53458193	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:53458193G>A	uc001jjp.3	-	0	1163	c.1117C>T	c.(1117-1119)Cgt>Tgt	p.R373C	PRKG1_uc001jjm.3_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.3_Intron	NM_015235	NP_056050	Q9H0L4	CSTFT_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant (CSTF2T), mRNA.	373	Gly-rich.				mRNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GAAGGGCCACGAGTGTCATGA	0.562000														90			19		0	0	0.010504	0	0
SLC16A9	220963	broad.mit.edu	37	10	61414328	61414328	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:61414328G>A	uc010qig.1	-	4	905	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	152					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCATATATGAAAAGGCCAA	0.408000														64			12		0	0	0.013537	0	0
AKAP9	10142	broad.mit.edu	37	7	91694579	91694579	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:91694579A>G	uc003ulg.3	+	24	6237	c.6012A>G	c.(6010-6012)gaA>gaG	p.E2004E	AKAP9_uc003ulf.3_Silent_p.E2004E|AKAP9_uc003uli.3_Silent_p.E1627E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2016	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATGAAGGAAAAACTAGAAG	0.294000			T	BRAF	papillary thyroid									21			5		0	0	0.001984	0	0
MYH1	4619	broad.mit.edu	37	17	10416982	10416982	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:10416982C>T	uc002gmo.3	-	8	860	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	256	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						CCTGTGGTACCGAAGTGGATC	0.393000														28			4		0	0	0.014758	0	0
HYDIN	54768	broad.mit.edu	37	16	70908731	70908731	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:70908731G>A	uc002ezr.3	-	62	10797	c.10646C>T	c.(10645-10647)cCa>cTa	p.P3549L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3550										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTTACATGTGGTTTATTTTC	0.522000														16			7		0	0	0.003080	0	0
OR13C2	392376	broad.mit.edu	37	9	107367196	107367196	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:107367196G>A	uc011lvq.2	-	0	713	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ACAGGTAGAGGAAGCTTTGCT	0.398000														69			14		0	0	0.004007	0	0
BRWD3	254065	broad.mit.edu	37	X	79980546	79980546	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:79980546G>A	uc004edt.3	-	14	1670	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	BRWD3_uc004edp.3_Silent_p.F298F|BRWD3_uc004edq.3_Silent_p.F65F|BRWD3_uc010nmj.2_Silent_p.F65F|BRWD3_uc004edr.3_Silent_p.F139F|BRWD3_uc004eds.3_Silent_p.F65F|BRWD3_uc004edo.3_Silent_p.F65F|BRWD3_uc004edu.3_Silent_p.F139F|BRWD3_uc004edv.3_Silent_p.F65F|BRWD3_uc004edw.3_Silent_p.F65F|BRWD3_uc004edx.3_Silent_p.F65F|BRWD3_uc004edy.3_Silent_p.F65F|BRWD3_uc004edz.3_Silent_p.F139F|BRWD3_uc004eea.3_Silent_p.F139F|BRWD3_uc004eeb.3_Silent_p.F65F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	469										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTCTAGAACGAATACTTCAT	0.378000														10			8		0	0	0.004482	0	0
PMFBP1	83449	broad.mit.edu	37	16	72158669	72158669	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr16:72158669C>T	uc002fcc.4	-	16	2773	c.2601G>A	c.(2599-2601)aaG>aaA	p.K867K	PMFBP1_uc002fcd.3_Silent_p.K862K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K717K|PMFBP1_uc010cgo.1_Silent_p.K158K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	867										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TGCCCACCTCCTTATCGTCCT	0.577000											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			25		0	0	0.016522	0	0
FAT3	120114	broad.mit.edu	37	11	92616244	92616244	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:92616244C>T	uc001pdj.4	+	22	12639	c.12622C>T	c.(12622-12624)Ccg>Tcg	p.P4208S	FAT3_uc001pdi.4_Missense_Mutation_p.P648S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4208					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAATGGCATCCCGTTCCGGAA	0.652000										TCGA Ovarian(4;0.039)				299			72		0	0	0.014410	0	0
OR4A15	81328	broad.mit.edu	37	11	55136058	55136058	+	Silent	SNP	G	A	A	rs141225150	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:55136058G>A	uc010rif.2	+	0	699	c.699G>A	c.(697-699)gcG>gcA	p.A233A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A233A(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGGAGGAGCGATTTGTGCTG	0.413000														66			11		0	0	0.010729	0	0
C2orf55	343990	broad.mit.edu	37	2	99448932	99448932	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:99448932G>A	uc002szf.1	-	4	713	c.419C>T	c.(418-420)cCa>cTa	p.P140L		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	140										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						AAGCCCCCCTGGAGGAGGTGG	0.507000														48			10		0	0	0.006214	0	0
RASSF1	11186	broad.mit.edu	37	3	50368147	50368147	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:50368147G>A	uc003dad.1	-	5	1031	c.900C>T	c.(898-900)ttC>ttT	p.F300F	TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.F145F|RASSF1_uc003dab.1_Silent_p.F226F|RASSF1_uc003dac.2_Silent_p.F145F|RASSF1_uc003dae.1_Silent_p.F296F|RASSF1_uc003daf.1_Silent_p.F145F|RASSF1_uc010hlk.1_Non-coding_Transcript	NM_170714	NP_733830	Q9NS23	RASF1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 1 (RASSF1), transcript variant D, mRNA.	300	SARAH.				Ras protein signal transduction|cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein N-terminus binding|protein binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGGCATGCTGAAGGCGTCCC	0.572000														57			11		0	0	0.008291	0	0
SCN5A	6331	broad.mit.edu	37	3	38601884	38601884	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:38601884G>A	uc021wvo.1	-	21	4051	c.3999C>T	c.(3997-3999)tcC>tcT	p.S1333S	SCN5A_uc021wvk.1_Silent_p.S1332S|SCN5A_uc021wvl.1_Silent_p.S1279S|SCN5A_uc021wvm.1_Silent_p.S1333S|SCN5A_uc021wvn.1_Silent_p.S1332S|SCN5A_uc021wvp.1_Silent_p.S1333S|SCN5A_uc021wvq.1_Silent_p.S1332S|SCN5A_uc021wvr.1_Silent_p.S1333S|SCN5A_uc021wvs.1_Silent_p.S1333S|SCN5A_uc021wvt.1_Silent_p.S1332S|SCN5A_uc021wvu.1_Silent_p.S1279S|SCN5A_uc021wvv.1_Silent_p.S1333S|SCN5A_uc021wvj.1_Silent_p.S1145S|SCN5A_uc021wvi.1_Silent_p.S1199S|SCN5A_uc021wvw.1_Silent_p.S943S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1333			S -> Y (in LQT3 and SIDS).		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)	CGTTCATGATGGACGGGATGG	0.572000														32			3		0	0	0.004672	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634625	156634625	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:156634625G>A	uc003iov.3	+	7	1998	c.1462G>A	c.(1462-1464)Gtt>Att	p.V488I	GUCY1A3_uc010iqc.2_Missense_Mutation_p.V488I|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V487I|GUCY1A3_uc003iow.3_Missense_Mutation_p.V488I|GUCY1A3_uc003iox.3_Missense_Mutation_p.V488I|GUCY1A3_uc010iqe.3_Missense_Mutation_p.V253I|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V488I|GUCY1A3_uc003ioz.3_Missense_Mutation_p.V253I|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V488I	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	488	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTCAGACATCGTTGGGTTCAC	0.537000														52			11		0	0	0.013537	0	0
HYAL4	23553	broad.mit.edu	37	7	123517036	123517036	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:123517036G>A	uc003vlc.3	+	4	1911	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	425					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATCTGATACAGACCTGGCAGT	0.488000														91			12		0	0	0.013537	0	0
FANCD2	2177	broad.mit.edu	37	3	10130618	10130618	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:10130618T>C	uc003buw.3	+	35	3745	c.3667T>C	c.(3667-3669)Ttc>Ctc	p.F1223L	FANCD2_uc003bux.1_Missense_Mutation_p.F1223L|FANCD2_uc003buy.1_Missense_Mutation_p.F1223L|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1223					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCCTCCACATTCCCTACACT	0.498000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					92			18		0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141777573	141777573	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:141777573C>T	uc002tvj.1	-	11	2860	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	630					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GAAGCTTTTTCCAGCCTGGCC	0.428000										TSP Lung(27;0.18)				74			11		0	0	0.008291	0	0
OR4K17	390436	broad.mit.edu	37	14	20586023	20586023	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:20586023G>A	uc001vwo.1	+	0	458	c.458G>A	c.(457-459)aGa>aAa	p.R153K		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTTTGACAGATATGTGGCC	0.448000														71			11		0	0	0.010729	0	0
GRID2	2895	broad.mit.edu	37	4	94436427	94436427	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:94436427G>A	uc011cdt.2	+	12	2316	c.2058G>A	c.(2056-2058)gcG>gcA	p.A686A	GRID2_uc011cdu.2_Silent_p.A591A	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	686					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TAGACTCTGCGGTATATGAGC	0.468000														35			7		0	0	0.003080	0	0
ACCSL	390110	broad.mit.edu	37	11	44073250	44073250	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:44073250G>A	uc001mxw.1	+	4	809	c.753G>A	c.(751-753)atG>atA	p.M251I	ACCSL_uc009ykr.2_Missense_Mutation_p.M70I	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	251							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CCCTGGCCATGGTTCTGTGTG	0.502000														180			47		0	0	0.014410	0	0
TRIM60	166655	broad.mit.edu	37	4	165962409	165962409	+	Silent	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:165962409T>G	uc003iqy.1	+	2	1355	c.1185T>G	c.(1183-1185)ggT>ggG	p.G395G	TRIM60_uc010iqx.1_Silent_p.G395G|TRIM60_uc021xty.1_Silent_p.G395G	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	395	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TGAAGAGTGGTTATGTTGCGT	0.453000														84			13		0	0	0.002450	0	0
YLPM1	56252	broad.mit.edu	37	14	75266069	75266069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:75266069C>T	uc001xqj.4	+	4	4193	c.4069C>T	c.(4069-4071)Cga>Tga	p.R1357*	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.R1357*(1)|p.R1162*(1)		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)		AGAAAGAAATCGAGAGCATGG	0.473000														126			33		0	0	0.012213	0	0
CUX1	1523	broad.mit.edu	37	7	101747641	101747641	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:101747641G>A	uc003uys.4	+	5	592	c.465G>A	c.(463-465)gaG>gaA	p.E155E	CUX1_uc003uyw.3_Silent_p.E109E|CUX1_uc003uyv.3_Silent_p.E139E|CUX1_uc003uyt.3_Silent_p.E155E|CUX1_uc003uyu.3_Silent_p.E155E|CUX1_uc011kkn.2_Silent_p.E118E|CUX1_uc003uyx.4_Silent_p.E144E	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	144					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACTTAAAGAGAAAATCCGAG	0.388000														110			18		0	0	0.006122	0	0
PLXDC2	84898	broad.mit.edu	37	10	20506496	20506496	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:20506496C>T	uc001iqg.1	+	10	1901	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	PLXDC2_uc001iqh.1_Missense_Mutation_p.P373S|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	422	Thr-rich.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CACCAGCCTCCCTACAGAAGG	0.428000														22			11		0	0	0.013537	0	0
DYSF	8291	broad.mit.edu	37	2	71780958	71780958	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:71780958C>G	uc010fen.3	+	20	2147	c.2006C>G	c.(2005-2007)cCc>cGc	p.P669R	DYSF_uc010fei.3_Missense_Mutation_p.P668R|DYSF_uc010feh.3_Missense_Mutation_p.P637R|DYSF_uc002sig.4_Missense_Mutation_p.P637R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P682R|DYSF_uc010fee.3_Missense_Mutation_p.P651R|DYSF_uc010fef.3_Missense_Mutation_p.P668R|DYSF_uc002sie.3_Missense_Mutation_p.P651R|DYSF_uc010feo.3_Missense_Mutation_p.P683R|DYSF_uc010fej.3_Missense_Mutation_p.P638R|DYSF_uc010fel.3_Missense_Mutation_p.P638R|DYSF_uc010fem.3_Missense_Mutation_p.P652R|DYSF_uc002sif.3_Missense_Mutation_p.P652R|DYSF_uc010fek.3_Missense_Mutation_p.P669R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	651						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TACTACCTACCCTGGGGTAAC	0.597000														17			3		0	0	0.004672	0	0
OR51V1	283111	broad.mit.edu	37	11	5221006	5221006	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:5221006G>A	uc010qyz.2	-	0	925	c.925C>T	c.(925-927)Cat>Tat	p.H309Y		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTCTGGTATGAATCTGTTGG	0.388000														33			12		0	0	0.001855	0	0
GRIK3	2899	broad.mit.edu	37	1	37270690	37270690	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:37270690G>A	uc001caz.2	-	14	2598	c.2463C>T	c.(2461-2463)atC>atT	p.I821I	GRIK3_uc001cba.1_Silent_p.I821I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	821					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	AGATGCCCCCGATCTTCTGGA	0.597000														82			18		0	0	0.008871	0	0
IFNA21	3452	broad.mit.edu	37	9	21166419	21166419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:21166419C>T	uc003zom.2	-	0	241	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	65					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCATCAAACTCCTCCTGGGGG	0.507000														122			30		0	0	0.010818	0	0
LGALS9	3965	broad.mit.edu	37	17	25969334	25969334	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:25969334C>T	uc002gzp.3	+	3	522	c.404C>T	c.(403-405)tCc>tTc	p.S135F	LGALS9_uc002gzq.3_Missense_Mutation_p.S135F|LGALS9_uc002gzr.3_Missense_Mutation_p.S78F|LGALS9_uc010waa.2_Missense_Mutation_p.S78F	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	135	Galectin 1.			S -> F (in Ref. 1; CAA88922).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GACACCATCTCCGTCAATGGC	0.612000														38			7		0	0	0.002450	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802120	185802120	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:185802120C>T	uc002uph.3	+	3	2591	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	666						intracellular	zinc ion binding	p.S666Y(2)		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						GAATCCATATCCTTAAGTGAC	0.318000														59			9		0	0	0.006214	0	0
C2orf80	389073	broad.mit.edu	37	2	209047720	209047720	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:209047720C>T	uc002vcr.3	-	3	347	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	59										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GTTAAGTCTTCTGAGGGATCC	0.458000														106			34		0	0	0.005524	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500082	90500082	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:90500082C>T	uc004app.4	+	3	715	c.680C>T	c.(679-681)cCc>cTc	p.P227L	FAM75E1_uc004apo.1_Missense_Mutation_p.P39L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	227	Pro-rich.					integral to membrane											CCACCAGAGCCCTTGCTTCCC	0.627000														130			41		0	0	0.011902	0	0
FAM83G	644815	broad.mit.edu	37	17	18882883	18882883	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:18882883C>T	uc002guw.3	-	3	961	c.794G>A	c.(793-795)cGg>cAg	p.R265Q	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	265										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCACACAGCCCGGTCTCCATC	0.582000														43			10		0	0	0.008291	0	0
FYN	2534	broad.mit.edu	37	6	112035566	112035566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:112035566G>A	uc003pvj.3	-	3	668	c.328C>T	c.(328-330)Caa>Taa	p.Q110*	FYN_uc003pvi.3_Nonsense_Mutation_p.Q110*|FYN_uc003pvk.3_Nonsense_Mutation_p.Q110*|FYN_uc003pvh.3_Nonsense_Mutation_p.Q110*	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	110	SH3.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAATATTTGAAATTTTTCT	0.438000														41			8		0	0	0.006214	0	0
SYT1	6857	broad.mit.edu	37	12	79679661	79679661	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:79679661G>A	uc001sys.3	+	5	932	c.261G>A	c.(259-261)aaG>aaA	p.K87K	SYT1_uc001syt.3_Silent_p.K87K|SYT1_uc001syu.3_Silent_p.K87K|SYT1_uc001syv.3_Silent_p.K87K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	87					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGTTCAAAAAGAAAAACAAGA	0.388000														44			4		0	0	0.009096	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530452	5530452	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:5530452T>C	uc021qcw.1	-	0	337	c.337A>G	c.(337-339)Agt>Ggt	p.S113G	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.S113G	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCAGGACTTGGGCCCTGG	0.612000														53			12		0	0	0.001855	0	0
CERS6	253782	broad.mit.edu	37	2	169622848	169622848	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:169622848C>T	uc002uec.1	+	9	1143	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	CERS6_uc002ueb.1_Intron	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	334						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AAGTGGAACCCTTTACATGTA	0.463000														61			10		0	0	0.008291	0	0
LBX1	10660	broad.mit.edu	37	10	102987042	102987042	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:102987042G>A	uc001ksx.3	-	1	976	c.831C>T	c.(829-831)atC>atT	p.I277I	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	277	Asp/Glu-rich (highly acidic).				muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CGTCCACGTCGATCTCTTCGT	0.726000														143			44		0	0	0.014410	0	0
TNXB	7148	broad.mit.edu	37	6	32021267	32021267	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:32021267C>T	uc003nzl.2	-	24	8885	c.8683G>A	c.(8683-8685)Gtc>Atc	p.V2895I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2944	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGATGGTGACCCCGTCCTCG	0.637000														670			103		0	0	0.014410	0	0
CDHR3	222256	broad.mit.edu	37	7	105615411	105615411	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:105615411C>T	uc003vdl.4	+	1	276	c.168C>T	c.(166-168)atC>atT	p.I56I	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Silent_p.I43I|CDHR3_uc011klt.2_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACCTGTGATCCCAGGATTTC	0.458000														131			53		0	0	0.014410	0	0
CASP10	843	broad.mit.edu	37	2	202074214	202074214	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:202074214C>T	uc002uxj.1	+	8	1762	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Silent_p.S381S|CASP10_uc002uxk.1_Silent_p.S405S|CASP10_uc002uxl.2_Silent_p.S448S|CASP10_uc002uxm.2_Silent_p.S405S	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	448					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCTATGTATCCTTTCGGCATG	0.498000														92			23		0	0	0.016522	0	0
CNTN5	53942	broad.mit.edu	37	11	100061868	100061868	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:100061868C>T	uc001pga.3	+	13	2095	c.1591C>T	c.(1591-1593)Ctt>Ttt	p.L531F	CNTN5_uc009ywv.2_Missense_Mutation_p.L531F|CNTN5_uc001pfz.3_Missense_Mutation_p.L531F|CNTN5_uc021qpb.1_Missense_Mutation_p.L531F|CNTN5_uc021qpc.1_Missense_Mutation_p.L457F|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	531	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATAGCTATTCTTCCAGACGG	0.363000														19			9		0	0	0.006214	0	0
SMTNL2	342527	broad.mit.edu	37	17	4498512	4498512	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:4498512G>A	uc002fyf.1	+	4	946	c.879G>A	c.(877-879)caG>caA	p.Q293Q	SMTNL2_uc002fye.2_Silent_p.Q149Q	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	293										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		TCCATCGGCAGGGGGAGCGTC	0.667000														39			21		0	0	0.003330	0	0
MYOCD	93649	broad.mit.edu	37	17	12656366	12656366	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:12656366G>A	uc002gno.2	+	9	2060	c.1761G>A	c.(1759-1761)gtG>gtA	p.V587V	MYOCD_uc002gnn.2_Silent_p.V587V|MYOCD_uc002gnp.1_Silent_p.V491V|MYOCD_uc002gnq.2_Silent_p.V306V	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	587					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AAGTACCTGTGAAAAGACAAA	0.517000														66			11		0	0	0.010729	0	0
GOLGA3	2802	broad.mit.edu	37	12	133385019	133385019	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:133385019G>A	uc001ukz.1	-	4	1195	c.636C>T	c.(634-636)ttC>ttT	p.F212F	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.F212F|GOLGA3_uc001ulb.3_Silent_p.F212F	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	212	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGTGCGCAGGAAGGAATATT	0.507000														274			60		0	0	0.014410	0	0
FCRL4	83417	broad.mit.edu	37	1	157557143	157557143	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:157557143C>T	uc001fqw.3	-	4	906	c.770G>A	c.(769-771)gGa>gAa	p.G257E	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	257	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAATAGGATCCTGAGTTTTC	0.537000														291			73		0	0	0.014410	0	0
OR7G3	390883	broad.mit.edu	37	19	9237276	9237276	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9237276C>T	uc010xkl.2	-	0	351	c.351G>A	c.(349-351)atG>atA	p.M117I		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CATAGGCCATCATGACCAGAA	0.483000														79			25		0	0	0.004656	0	0
LOC440905	440905	broad.mit.edu	37	2	130792830	130792830	+	RNA	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:130792830C>T	uc002tpz.2	-	7		c.2499G>A								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		GAAACCCTTTCCCAGCCTGCA	0.418000														13			5		0	0	0.014758	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55246796	55246796	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:55246796C>T	uc002qgu.1	+	5	1044	c.1026C>T	c.(1024-1026)ctC>ctT	p.L342L		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	342						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCTTCTTTCTCCTTCATCGCT	0.522000														45			14		0	0	0.001855	0	0
IL1B	3553	broad.mit.edu	37	2	113588878	113588878	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:113588878T>C	uc002tii.1	-	5	675	c.588A>G	c.(586-588)ctA>ctG	p.L196L	IL1B_uc002tih.1_Silent_p.L165L	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	196					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CCTCCAGCTGTAGAGTGGGCT	0.493000														175			40		0	0	0.011902	0	0
SLC37A3	84255	broad.mit.edu	37	7	140035266	140035266	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:140035266C>T	uc003vvo.3	-	14	1597	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	SLC37A3_uc003vvp.3_Missense_Mutation_p.E377K|SLC37A3_uc010lnh.3_Silent_p.V461V	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	477					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ATATTTCCCTCACTATTAATG	0.418000														69			10		0	0	0.006214	0	0
STXBP5L	9515	broad.mit.edu	37	3	120973939	120973939	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:120973939G>A	uc003eec.4	+	15	1779	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	STXBP5L_uc011bji.2_Missense_Mutation_p.E547K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	547					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CAGCAGACATGAAATTACAAC	0.308000														24			6		0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	138373870	138373870	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:138373870C>T	uc002tva.1	+	16	3459	c.3459C>T	c.(3457-3459)ttC>ttT	p.F1153F	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.R1153K(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCTTCCAGTTCCAGTACAATC	0.433000														121			22		0	0	0.016522	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68964644	68964644	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:68964644C>T	uc003hdt.1	-	1	173	c.124G>A	c.(124-126)Gga>Aga	p.G42R		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	42					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATTGCAATTCCTATGATTGCT	0.383000														37			11		0	0	0.010729	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51397368	51397368	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:51397368C>T	uc001zyy.3	-	0	106	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	2										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GCCGTGGTTTCCCCATTTGGA	0.517000														57			15		0	0	0.006122	0	0
GON4L	54856	broad.mit.edu	37	1	155753808	155753808	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:155753808G>A	uc001flz.2	-	13	1958	c.1861C>T	c.(1861-1863)Cgt>Tgt	p.R621C	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.R621C|GON4L_uc009wrh.1_Missense_Mutation_p.R621C|GON4L_uc001fma.1_Missense_Mutation_p.R621C|GON4L_uc001fmc.3_Missense_Mutation_p.R621C|GON4L_uc001fmd.4_Missense_Mutation_p.R621C|GON4L_uc009wri.3_Missense_Mutation_p.R207C|GON4L_uc009wrj.2_Missense_Mutation_p.R136C|GON4L_uc001fme.3_Missense_Mutation_p.R449C	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	621					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGTTAGGACGAGGCTCAGCT	0.453000														68			26		0	0	0.010818	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918821	51918821	+	Splice_Site	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:51918821C>T	uc002pwo.3	-	6	1294	c.1072_splice	c.e6+1	p.V358_splice	SIGLEC10_uc002pwp.3_Splice_Site_p.V300_splice|SIGLEC10_uc021uyl.1_Splice_Site_p.V275_splice|SIGLEC10_uc002pwq.3_Splice_Site_p.V300_splice|SIGLEC10_uc010ycz.2_Splice_Site_p.V310_splice|SIGLEC10_uc002pws.2_Splice_Site_p.V210_splice|SIGLEC10_uc002pwr.3_Splice_Site_p.V358_splice|SIGLEC10_uc010ycy.2_Splice_Site_p.V268_splice|SIGLEC10_uc010eow.3_Splice_Site_p.V170_splice|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	358	Ig-like C2-type 3.				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)		CCCTTTCCTACCTGTCCTGTT	0.617000														127			30		0	0	0.013726	0	0
RASGRF2	5924	broad.mit.edu	37	5	80382693	80382693	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:80382693G>A	uc003kha.2	+	8	1361	c.1311G>A	c.(1309-1311)agG>agA	p.R437R	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.R265R	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	437					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAAACATAAGGAAAAACCTTG	0.473000														39			7		0	0	0.001984	0	0
FAM83C	128876	broad.mit.edu	37	20	33874510	33874510	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:33874510C>T	uc021wck.1	-	3	2190	c.2072G>A	c.(2071-2073)gGg>gAg	p.G691E	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.G346E	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	691										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTGCCTGGCCCCGTGCAACTG	0.612000														105			17		0	0	0.004990	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955953	18955953	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:18955953G>A	uc001mpg.3	-	0	597	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	127					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P127A(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TACCAGATGGGCCACAGGACG	0.592000														85			16		0	0	0.006122	0	0
FAM54A	113115	broad.mit.edu	37	6	136552438	136552438	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:136552438G>A	uc010kgp.1	-	7	1523	c.1133C>T	c.(1132-1134)aCa>aTa	p.T378I	FAM54A_uc003qgt.1_Missense_Mutation_p.T378I|FAM54A_uc003qgu.1_Missense_Mutation_p.T335I	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	378										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		TAGAAGGCTTGTGTTGCTGAT	0.363000														21			4		0	0	0.014758	0	0
STYK1	55359	broad.mit.edu	37	12	10777432	10777432	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:10777432G>A	uc001qys.2	-	7	1265	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	248	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CATCCCCATGGAACAAATGCT	0.478000										HNSCC(73;0.22)				103			19		0	0	0.012319	0	0
ALPP	250	broad.mit.edu	37	2	233246055	233246055	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:233246055G>A	uc002vsq.3	+	9	1452	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	429						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCGCCCGGCCGGATGTTACCG	0.697000														63			9		0	0	0.008291	0	0
RGPD3	653489	broad.mit.edu	37	2	107041038	107041038	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:107041038C>T	uc010ywi.1	-	19	3442	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1129	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CACATCCATGCTCTATCTGAT	0.428000														164			39		0	0	0.008740	0	0
COL9A1	1297	broad.mit.edu	37	6	70990730	70990730	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:70990730G>A	uc003pfg.4	-	8	1048	c.889C>T	c.(889-891)Cct>Tct	p.P297S	COL9A1_uc003pfe.4_5'Flank|COL9A1_uc003pff.4_Missense_Mutation_p.P54S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	297	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGCCCTTAGGACCTCGGTCA	0.577000														54			10		0	0	0.010729	0	0
ELFN2	114794	broad.mit.edu	37	22	37770430	37770430	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:37770430G>A	uc003asq.4	-	2	1931	c.1145C>T	c.(1144-1146)cCc>cTc	p.P382L	ELFN2_uc021wph.1_Missense_Mutation_p.P382L	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	382						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCGGGGACGGGGTCCCGCGT	0.637000														60			9		0	0	0.004482	0	0
TRPM3	80036	broad.mit.edu	37	9	73458035	73458035	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:73458035G>A	uc004aid.3	-	4	929	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	TRPM3_uc004ahu.3_Missense_Mutation_p.R59C|TRPM3_uc004ahv.3_Missense_Mutation_p.R59C|TRPM3_uc004ahw.3_Missense_Mutation_p.R76C|TRPM3_uc004ahx.3_Missense_Mutation_p.R76C|TRPM3_uc004ahy.3_Missense_Mutation_p.R76C|TRPM3_uc004ahz.3_Missense_Mutation_p.R76C|TRPM3_uc004aia.3_Missense_Mutation_p.R76C|TRPM3_uc004aib.3_Missense_Mutation_p.R76C|TRPM3_uc004aic.3_Missense_Mutation_p.R229C|TRPM3_uc010mor.3_Missense_Mutation_p.R229C|TRPM3_uc004aie.3_Missense_Mutation_p.R76C|TRPM3_uc004aif.3_Missense_Mutation_p.R76C|TRPM3_uc004aig.3_Missense_Mutation_p.R76C|TRPM3_uc004aii.3_Missense_Mutation_p.R231C	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	229						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCAACATGACGAATAACACCT	0.403000														21			4		0	0	0.014758	0	0
TIAM2	26230	broad.mit.edu	37	6	155561752	155561752	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:155561752C>T	uc003qqb.3	+	17	4530	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L	TIAM2_uc003qqe.3_Missense_Mutation_p.P1086L|TIAM2_uc010kjj.3_Missense_Mutation_p.P619L|TIAM2_uc003qqf.3_Missense_Mutation_p.P462L|TIAM2_uc011efl.1_Missense_Mutation_p.P422L|TIAM2_uc003qqg.3_Missense_Mutation_p.P398L|TIAM2_uc003qqh.3_Missense_Mutation_p.P11L	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1086					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGGATCCTCCTCCGAGGTCT	0.572000														52			16		0	0	0.004007	0	0
ZNF831	128611	broad.mit.edu	37	20	57828183	57828183	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:57828183G>A	uc002yan.3	+	3	4178	c.4178G>A	c.(4177-4179)cGa>cAa	p.R1393Q		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1393						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)					ATGGACAAACGAACTGTGAAG	0.468000														121			20		0	0	0.016522	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570459	61570459	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:61570459G>A	uc010xeu.2	+	8	1501	c.1168G>A	c.(1168-1170)Gca>Aca	p.A390T	SERPINB2_uc002ljo.3_Missense_Mutation_p.A390T|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	390					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)	ACAGTTTGTGGCAGATCATCC	0.468000														80			21		0	0	0.010504	0	0
NFYA	4800	broad.mit.edu	37	6	41059431	41059431	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:41059431A>G	uc003opo.3	+	6	890	c.712A>G	c.(712-714)Atg>Gtg	p.M238V	NFYA_uc003opp.3_Missense_Mutation_p.M209V|NFYA_uc003opq.3_Missense_Mutation_p.M209V	NM_002505	NP_002496	P23511	NFYA_HUMAN	Homo sapiens nuclear transcription factor Y, alpha (NFYA), transcript variant 1, mRNA.	238					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGGATGGTCATGGTAAGAAA	0.423000														101			19		0	0	0.014323	0	0
ATP2B4	493	broad.mit.edu	37	1	203696545	203696545	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:203696545G>A	uc001gzw.3	+	19	4052	c.3155G>A	c.(3154-3156)cGa>cAa	p.R1052Q	ATP2B4_uc001gzv.3_Missense_Mutation_p.R1052Q|ATP2B4_uc009xaq.3_Missense_Mutation_p.R1052Q|ATP2B4_uc001gzx.3_Missense_Mutation_p.R83Q|ATP2B4_uc009xar.3_Missense_Mutation_p.R47Q|ATP2B4_uc010pqj.1_5'Flank|U42379_uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1052					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATACCTACCCGATCCCTGAAG	0.532000														73			19		0	0	0.007413	0	0
POTEE	445582	broad.mit.edu	37	2	132021752	132021752	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:132021752C>T	uc002tsn.2	+	14	2776	c.2724C>T	c.(2722-2724)atC>atT	p.I908I	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.I508I|POTEE_uc002tsl.2_Silent_p.I490I|POTEE_uc010fmy.1_Silent_p.I372I	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	908	Actin-like.						ATP binding										AGCGGGAAATCGTGCGTGACA	0.602000														128			15		0	0	0.014323	0	0
FAM83B	222584	broad.mit.edu	37	6	54806613	54806613	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:54806613G>A	uc003pck.3	+	4	2960	c.2844G>A	c.(2842-2844)caG>caA	p.Q948Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	948										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCTCTATTCAGCCAACAAGCA	0.438000														74			13		0	0	0.001855	0	0
IKZF1	10320	broad.mit.edu	37	7	50468256	50468256	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:50468256C>T	uc003tow.4	+	7	1646	c.1491C>T	c.(1489-1491)taC>taT	p.Y497Y	IKZF1_uc022acq.1_Silent_p.Y354Y|IKZF1_uc003tpa.4_Silent_p.Y262Y|IKZF1_uc022acr.1_Silent_p.Y272Y|IKZF1_uc022acs.1_Silent_p.Y227Y|IKZF1_uc022act.1_Silent_p.Y400Y|IKZF1_uc022acu.1_Silent_p.Y410Y|IKZF1_uc003tox.4_Silent_p.Y455Y|IKZF1_uc022acv.1_Silent_p.Y358Y|IKZF1_uc022acw.1_Silent_p.Y368Y|IKZF1_uc022acx.1_Silent_p.Y410Y|IKZF1_uc022acy.1_Silent_p.Y304Y|IKZF1_uc022acz.1_Silent_p.Y314Y|IKZF1_uc011kck.2_Silent_p.Y410Y|IKZF1_uc003toy.4_Silent_p.Y455Y|IKZF1_uc003toz.4_Silent_p.Y467Y|IKZF1_uc010kyx.3_Silent_p.Y237Y	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	497					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGTGCGGCTACCACAGCCAGG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""									28			5		0	0	0.001168	0	0
MYH7	4625	broad.mit.edu	37	14	23890220	23890220	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:23890220C>T	uc001wjx.3	-	25	3389	c.3283G>A	c.(3283-3285)Gag>Aag	p.E1095K	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1095					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTCATCCTCAATCCTTGCG	0.587000														77			15		0	0	0.007413	0	0
FBN3	84467	broad.mit.edu	37	19	8174261	8174261	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:8174261C>T	uc002mjf.3	-	34	4485	c.4468G>A	c.(4468-4470)Ggg>Agg	p.G1490R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1490	TB 6.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAACAGTTCCCGGCCCGAGTG	0.557000														50			14		0	0	0.003163	0	0
LPAR4	2846	broad.mit.edu	37	X	78010822	78010822	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:78010822G>A	uc022bzj.1	+	0	456	c.456G>A	c.(454-456)agG>agA	p.R152R	LPAR4_uc010nme.3_Silent_p.R152R	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	152						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTAGGACTAGGAGGAATTCTG	0.453000														18			17		0	0	0.004990	0	0
ZAN	7455	broad.mit.edu	37	7	100386863	100386863	+	Silent	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:100386863C>G	uc003uwj.3	+	39	7413	c.7248C>G	c.(7246-7248)gtC>gtG	p.V2416V	ZAN_uc003uwk.3_Silent_p.V2416V|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.V467V	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2417	VWFD 4.				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)			AGATGGCCGTCCCCTACAGGC	0.567000														54			5		0	0	0.001168	0	0
TUT1	64852	broad.mit.edu	37	11	62344694	62344694	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:62344694C>T	uc001nto.2	-	5	1382	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	410					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGAGGGTGTACACGAGGGGCC	0.607000														55			13		0	0	0.002450	0	0
DUOXA1	90527	broad.mit.edu	37	15	45409845	45409845	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:45409845C>T	uc001zup.3	-	10	1720	c.1320G>A	c.(1318-1320)tcG>tcA	p.S440S	DUOXA2_uc001zuo.3_Intron|DUOXA2_uc010beb.3_Intron|DUOXA1_uc010uem.2_Silent_p.S395S|DUOXA1_uc010bec.3_Silent_p.S440S	NM_144565	NP_653166	Q1HG43	DOXA1_HUMAN	Homo sapiens dual oxidase maturation factor 1 (DUOXA1), mRNA.	0					protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686)		ggccagagttcgagaccagcc	0.607000														26			5		0	0	0.014758	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886633	228886633	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:228886633C>T	uc002vpq.2	-	5	538	c.491G>A	c.(490-492)aGa>aAa	p.R164K	SPHKAP_uc002vpp.2_Missense_Mutation_p.R164K|SPHKAP_uc010zlx.1_Missense_Mutation_p.R164K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	164						cytoplasm	protein binding	p.N163N(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTGTTTGGTCTGTTCCCTCT	0.433000														24			7		0	0	0.001984	0	0
OR2M4	26245	broad.mit.edu	37	1	248402677	248402677	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:248402677G>A	uc010pzh.2	+	0	447	c.447G>A	c.(445-447)tgG>tgA	p.W149*		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTGCTTCCTGGACCTTGGGGT	0.463000														80			15		0	0	0.003163	0	0
PTGIS	5740	broad.mit.edu	37	20	48130930	48130930	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:48130930C>T	uc002xut.3	-	6	912	c.858G>A	c.(856-858)ggG>ggA	p.G286G	PTGIS_uc010zyi.2_Silent_p.G147G	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	286					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GACCCATATTCCCCTGCAAGG	0.597000														31			12		0	0	0.010729	0	0
DSG4	147409	broad.mit.edu	37	18	28966764	28966764	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:28966764G>A	uc002kwr.2	+	2	333	c.198G>A	c.(196-198)aaG>aaA	p.K66K	DSG4_uc002kwq.2_Silent_p.K66K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	66	Cadherin 1.				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)			ACAACTCGAAGAGGAACCCCA	0.453000														49			5		0	0	0.014758	0	0
PHF3	23469	broad.mit.edu	37	6	64394342	64394342	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:64394342G>T	uc003pep.1	+	2	744	c.719G>T	c.(718-720)tGt>tTt	p.C240F	PHF3_uc010kaf.1_Missense_Mutation_p.C240F|PHF3_uc003pem.2_Missense_Mutation_p.C193F|PHF3_uc010kag.1_Missense_Mutation_p.C152F|PHF3_uc010kah.1_Missense_Mutation_p.C54F|PHF3_uc003pen.2_Missense_Mutation_p.C152F|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.C240F	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	240					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.C240Y(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGCATAAGTGTAATAATCCG	0.348000														85			18		2.35188e-11	2.42244e-11	0.006122	1	0
KCNN2	3781	broad.mit.edu	37	5	113699644	113699644	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:113699644C>T	uc003kqo.3	+	1	985	c.528C>T	c.(526-528)ctC>ctT	p.L176L		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	176						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTATCAGTCTCTCCACGATCA	0.478000														86			16		0	0	0.010504	0	0
ARSK	153642	broad.mit.edu	37	5	94918630	94918630	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:94918630G>A	uc003kld.3	+	3	585	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ARSK_uc010jbg.3_5'UTR|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	143						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCGTGTGGAAGCGTGGAC	0.383000														95			22		0	0	0.004656	0	0
OR4D10	390197	broad.mit.edu	37	11	59245499	59245499	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:59245499G>A	uc001nnz.1	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACTACTAATGATTTCCAACA	0.463000														61			8		0	0	0.003080	0	0
SRSF7	6432	broad.mit.edu	37	2	38977196	38977196	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:38977196G>A	uc002rqz.3	-	1	407	c.169C>T	c.(169-171)Cct>Tct	p.P57S	SRSF7_uc010ynp.2_Missense_Mutation_p.P57S|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	57	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCATCTCTAGGATCTTCGAAT	0.383000														72			23		0	0	0.004656	0	0
NLRP8	126205	broad.mit.edu	37	19	56466522	56466522	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:56466522C>T	uc002qmh.3	+	2	1169	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	NLRP8_uc010etg.3_Silent_p.F366F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	366	NACHT.					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)		TCAAGTATTTCCAGATGTATT	0.463000														76			10		0	0	0.008291	0	0
OR2B11	127623	broad.mit.edu	37	1	247614409	247614409	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:247614409G>A	uc010pyx.2	-	0	876	c.876C>T	c.(874-876)ttC>ttT	p.F292F		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGGTGTAGGTGAAGGGATTGA	0.483000														178			29		0	0	0.013726	0	0
USP6NL	9712	broad.mit.edu	37	10	11504989	11504989	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:11504989G>A	uc001iks.1	-	13	2032	c.1989C>T	c.(1987-1989)ttC>ttT	p.F663F	USP6NL_uc001ikt.3_Silent_p.F646F	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	646						intracellular	Rab GTPase activator activity	p.H662R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGGCAGTAGGGAAGTGTTTGG	0.547000														26			3		0	0	0.004672	0	0
DKK2	27123	broad.mit.edu	37	4	107845316	107845316	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:107845316C>T	uc003hyi.3	-	3	1280	c.575G>A	c.(574-576)gGg>gAg	p.G192E	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	192	DKK-type Cys-2.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGCAAAACCCTTCAATGCA	0.473000														56			11		0	0	0.008291	0	0
COQ3	51805	broad.mit.edu	37	6	99823983	99823983	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:99823983T>C	uc003ppk.3	-	4	589	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	188					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TCAAATGATTTATGGCATTGT	0.428000														80			12		0	0	0.001855	0	0
SYNRG	11276	broad.mit.edu	37	17	35902537	35902537	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:35902537G>A	uc002hoa.3	-	14	2822	c.2739C>T	c.(2737-2739)ctC>ctT	p.L913L	SYNRG_uc010wde.2_Silent_p.L835L|SYNRG_uc010wdf.2_Silent_p.L835L|SYNRG_uc002hoc.3_Silent_p.L834L|SYNRG_uc002hoe.3_Silent_p.L835L|SYNRG_uc002hod.3_Intron|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Silent_p.L913L|SYNRG_uc002hof.3_Intron	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	913					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTGCTGAGAGGACAAATG	0.458000														95			10		0	0	0.006214	0	0
ZNF846	162993	broad.mit.edu	37	19	9870588	9870588	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:9870588G>A	uc002mmb.1	-	4	791	c.260C>T	c.(259-261)tCc>tTc	p.S87F	ZNF846_uc021uoq.1_Intron|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_Intron	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						CAGCAGTGGGGAGCCTTTGGT	0.398000														42			12		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34080129	34080129	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:34080129C>T	uc001bxm.1	-	39	6285	c.6108G>A	c.(6106-6108)tgG>tgA	p.W2036*	CSMD2_uc001bxn.1_Nonsense_Mutation_p.W1996*|CSMD2_uc001bxo.1_Nonsense_Mutation_p.W909*	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1996	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGCTATTTTCCAGGAGCAGT	0.567000														34			5		0	0	0.014758	0	0
DNAH5	1767	broad.mit.edu	37	5	13721267	13721267	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:13721267G>A	uc003jfd.2	-	70	12163	c.12121C>T	c.(12121-12123)Cca>Tca	p.P4041S	DNAH5_uc003jfc.2_Missense_Mutation_p.P209S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4041	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCGTCCGTGGATCAGATTCC	0.483000									Kartagener syndrome					82			19		0	0	0.012319	0	0
OR2A25	392138	broad.mit.edu	37	7	143771756	143771756	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:143771756G>A	uc011ktx.2	+	0	444	c.444G>A	c.(442-444)tgG>tgA	p.W148*		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W148R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACTTCCTGGATTTTAGGAG	0.458000														142			28		0	0	0.008361	0	0
VWA5A	4013	broad.mit.edu	37	11	124005635	124005635	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:124005635C>T	uc001pzu.3	+	11	1462	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	VWA5A_uc001pzt.3_Missense_Mutation_p.S418L	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	418	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGGTGTTTCTCATTTGGTATT	0.408000														28			5		0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179648473	179648473	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179648473G>A	uc021vsy.1	-	16	3040	c.2815C>T	c.(2815-2817)Cct>Tct	p.P939S	TTN_uc021vsz.1_Missense_Mutation_p.P893S|TTN_uc021vta.1_Missense_Mutation_p.P893S|TTN_uc021vtb.1_Missense_Mutation_p.P893S|TTN_uc002unb.2_Missense_Mutation_p.P939S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	939							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)			GGAGTAACAGGAATTTCAACA	0.348000														50			7		0	0	0.004482	0	0
HDAC9	9734	broad.mit.edu	37	7	18631235	18631235	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:18631235C>T	uc003sui.3	+	3	553	c.512C>T	c.(511-513)tCc>tTc	p.S171F	HDAC9_uc003sue.3_Missense_Mutation_p.S168F|HDAC9_uc011jyd.2_Missense_Mutation_p.S168F|HDAC9_uc003suh.3_Missense_Mutation_p.S168F|HDAC9_uc003suj.3_Missense_Mutation_p.S171F|HDAC9_uc011jya.2_Missense_Mutation_p.S210F|HDAC9_uc003sua.1_Missense_Mutation_p.S190F|HDAC9_uc003sud.2_Missense_Mutation_p.S168F|HDAC9_uc011jyc.2_Missense_Mutation_p.S171F|HDAC9_uc011jyb.2_Missense_Mutation_p.S168F|HDAC9_uc003suf.2_Missense_Mutation_p.S199F|HDAC9_uc010kud.2_Missense_Mutation_p.S171F|HDAC9_uc011jye.2_Missense_Mutation_p.S140F|HDAC9_uc011jyf.2_Missense_Mutation_p.S137F|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	168					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.S171S(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAAAATCATTCCGTGAGCCGC	0.463000														46			21		0	0	0.014323	0	0
CACNA1D	776	broad.mit.edu	37	3	53844086	53844087	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:53844086_53844087CC>TT	uc003dgv.4	+	46	6116_6117	c.5953_5954CC>TT	c.(5953-5955)cca>TTa	p.P1985L	CACNA1D_uc003dgu.4_Missense_Mutation_p.P2005L|CACNA1D_uc003dgy.4_Missense_Mutation_p.P1961L|CACNA1D_uc003dgw.4_Missense_Mutation_p.P1652L|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1985					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGCCACCCCTCCAGCAACCCCT	0.624000														60			12		0	0	0.004672	0	0
FGFBP3	143282	broad.mit.edu	37	10	93668130	93668130	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:93668130G>A	uc001khq.4	-	1	779	c.597C>T	c.(595-597)ccC>ccT	p.P199P	FGFBP3_uc021pwg.1_Silent_p.P199P	NM_152429	NP_689642	Q8TAT2	FGFP3_HUMAN	Homo sapiens fibroblast growth factor binding protein 3 (FGFBP3), mRNA.	199					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding	p.P199P(2)		large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				TCCTCTCTGAGGGGTTTTCTT	0.731000														41			8		0	0	0.004482	0	0
IQGAP2	10788	broad.mit.edu	37	5	75757427	75757427	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:75757427G>A	uc003kek.3	+	1	301	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	27					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTCTGCAGAGGAGATGGATGA	0.418000														49			10		0	0	0.008291	0	0
ABCB5	340273	broad.mit.edu	37	7	20762706	20762706	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:20762706C>T	uc010kuh.3	+	20	2726	c.2489C>T	c.(2488-2490)tCc>tTc	p.S830F	ABCB5_uc003suw.4_Missense_Mutation_p.S385F|ABCB5_uc003sux.1_Missense_Mutation_p.S8F	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	385					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTATCATTTCCTTTATATAT	0.413000														58			21		0	0	0.012319	0	0
INHBB	3625	broad.mit.edu	37	2	121106868	121106868	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:121106868G>A	uc002tmn.2	+	1	688	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	214					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GGTGGAACATGGTGGAGAAGA	0.632000														109			23		0	0	0.003954	0	0
MACC1	346389	broad.mit.edu	37	7	20193960	20193960	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:20193960G>A	uc003sus.4	-	5	2511	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	MACC1_uc010kug.3_Silent_p.I734I	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	734					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						CAGCTTCTTGGATGAGACGTG	0.438000														43			4		0	0	0.009096	0	0
CRB1	23418	broad.mit.edu	37	1	197297845	197297845	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:197297845G>A	uc001gtz.3	+	1	573	c.364G>A	c.(364-366)Gga>Aga	p.G122R	CRB1_uc010poz.2_Missense_Mutation_p.G53R|CRB1_uc001gty.2_Missense_Mutation_p.G122R|CRB1_uc009wza.3_Missense_Mutation_p.G122R|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.G122R	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	122	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTGCCAACATGGAGGTATTTG	0.493000														26			5		0	0	0.014758	0	0
CCDC86	79080	broad.mit.edu	37	11	60609774	60609774	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:60609774C>T	uc001nqa.2	+	0	346	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	59	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						TGGGGTCCCCCGAAAGGCCGC	0.692000														46			10		0	0	0.008291	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:37486234C>T	uc021ppc.1	+	27	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_uc001iza.1_Silent_p.F824F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	880						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F824F(2)|p.A823T(1)		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						CATCTGCCTTCGAGGTATTTA	0.328000														101			15		0	0	0.004007	0	0
TSEN34	79042	broad.mit.edu	37	19	54696217	54696217	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:54696217C>T	uc010yeo.2	+	3	827	c.738C>T	c.(736-738)gtC>gtT	p.V246V	MBOAT7_uc002qdq.3_5'Flank|MBOAT7_uc002qdr.3_5'Flank|MBOAT7_uc002qds.3_5'Flank|MBOAT7_uc010yen.2_5'Flank|MBOAT7_uc002qdt.4_5'Flank|TSEN34_uc002qdu.3_Silent_p.V246V|TSEN34_uc002qdv.3_Silent_p.V246V|TSEN34_uc002qdw.3_Silent_p.V246V	NM_024075	NP_076980	Q9BSV6	SEN34_HUMAN	Homo sapiens tRNA splicing endonuclease 34 homolog (S. cerevisiae) (TSEN34), transcript variant 1, mRNA.	246					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACTTCCTGGTCTATCCTGGTG	0.512000														101			22		0	0	0.003954	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6064089	6064089	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:6064089G>T	uc010idb.1	-	9	1996	c.1510C>A	c.(1510-1512)Ctg>Atg	p.L504M	JAKMIP1_uc010idc.1_Missense_Mutation_p.L319M|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Missense_Mutation_p.L504M|JAKMIP1_uc011bwc.2_Missense_Mutation_p.L339M|JAKMIP1_uc003giv.4_Missense_Mutation_p.L504M|JAKMIP1_uc010ide.3_Missense_Mutation_p.L504M	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	504	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCTGGAGCAGGGCGTAGGCG	0.667000														79			11		9.70103e-10	9.97211e-10	0.008291	1	0
PRKCQ	5588	broad.mit.edu	37	10	6553016	6553016	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:6553016C>T	uc001iji.1	-	1	442	c.358G>A	c.(358-360)Gtg>Atg	p.V120M	PRKCQ_uc001ijj.2_Missense_Mutation_p.V87M|PRKCQ_uc009xim.2_Missense_Mutation_p.V87M|PRKCQ_uc009xin.2_Missense_Mutation_p.V51M|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	87	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TAGAGCTCCACGGTGGTTTCA	0.483000														95			16		0	0	0.004007	0	0
KCNQ3	3786	broad.mit.edu	37	8	133175718	133175718	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:133175718G>A	uc003ytj.3	-	8	1484	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F	KCNQ3_uc003yti.3_Missense_Mutation_p.S300F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S420F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	420					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AACTTACCTGGATGCTGCCTC	0.453000														50			7		0	0	0.003080	0	0
OGDHL	55753	broad.mit.edu	37	10	50946248	50946248	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:50946248C>T	uc009xog.3	-	16	2495	c.2461G>A	c.(2461-2463)Gat>Aat	p.D821N	OGDHL_uc001jie.3_Missense_Mutation_p.D794N|OGDHL_uc010qgt.2_Missense_Mutation_p.D737N|OGDHL_uc010qgu.2_Missense_Mutation_p.D585N	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	794					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGGTAGGCATCCGAGTCATCA	0.622000														70			11		0	0	0.010729	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249826	79249826	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:79249826G>A	uc002jzz.1	-	7	1230	c.855C>T	c.(853-855)ttC>ttT	p.F285F	SLC38A10_uc002jzy.1_Silent_p.F203F|SLC38A10_uc002kab.3_Silent_p.F285F	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	285					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCATCATGGGGAAGCCCACAG	0.612000														62			16		0	0	0.004007	0	0
ITIH5	80760	broad.mit.edu	37	10	7615118	7615118	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:7615118G>A	uc021pmv.1	-	10	2125	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ITIH5_uc021pmu.1_Silent_p.I459I|ITIH5_uc001ijr.2_Silent_p.I673I	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	673					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I673N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGTTTTAGAGATTTTAATTC	0.423000														21			7		0	0	0.001984	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64756156	64756156	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:64756156T>C	uc003jtp.3	-	3	1286	c.472A>G	c.(472-474)Att>Gtt	p.I158V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	158					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCTGTAGCAATAACACCATGC	0.299000														68			13		0	0	0.013537	0	0
ORM1	5004	broad.mit.edu	37	9	117086350	117086350	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:117086350G>A	uc004bik.4	+	2	421	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	ORM1_uc011lxo.2_Missense_Mutation_p.G104R	NM_000607	NP_000598	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 1 (ORM1), mRNA.	104					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GCGGGAAAATGGGACCATCTC	0.542000														65			14		0	0	0.003163	0	0
A2ML1	144568	broad.mit.edu	37	12	8998064	8998064	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:8998064G>A	uc001quz.4	+	12	1601	c.1503G>A	c.(1501-1503)atG>atA	p.M501I	A2ML1_uc001qva.1_Missense_Mutation_p.M81I|A2ML1_uc010sgm.2_Missense_Mutation_p.M1I	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	345						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTTTGGTGATGGAGGGGCAGA	0.393000														35			8		0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228509380	228509380	+	Missense_Mutation	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:228509380C>G	uc009xez.1	+	54	14882	c.14838C>G	c.(14836-14838)atC>atG	p.I4946M	OBSCN_uc001hsn.3_Missense_Mutation_p.I4946M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4946	Ig-like 48.				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)				ACCATCACATCGACCAGCTTG	0.622000														42			14		0	0	0.002450	0	0
CFHR1	3078	broad.mit.edu	37	1	196801023	196801023	+	Missense_Mutation	SNP	C	T	T	rs16840561	byFrequency	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:196801023C>T	uc001gtn.3	+	5	1001	c.887C>T	c.(886-888)gCt>gTt	p.A296V	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.A200V	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	296	Sushi 5.		A -> V (in dbSNP:rs16840561).		complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GGTGAATCAGCTGAATTTGTG	0.398000														89			4		0	0	0.004482	0	0
USP15	9958	broad.mit.edu	37	12	62790089	62790089	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:62790089C>T	uc001src.2	+	19	2660	c.2585C>T	c.(2584-2586)tCg>tTg	p.S862L	USP15_uc001srb.2_Missense_Mutation_p.S833L	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	862					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S833L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTGGATATGTCGGAATTCTTA	0.378000														31			6		0	0	0.003080	0	0
GABRB3	2562	broad.mit.edu	37	15	26793211	26793211	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:26793211C>T	uc001zbb.3	-	9	1422	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D	GABRB3_uc021sgg.1_Missense_Mutation_p.G313D|GABRB3_uc021sgh.1_Missense_Mutation_p.G299D|GABRB3_uc001zaz.3_Missense_Mutation_p.G384D|GABRB3_uc001zba.3_Missense_Mutation_p.G384D	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	384					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCGCCAATGCCGCCTGAGAC	0.473000														90			17		0	0	0.007413	0	0
KDM5C	8242	broad.mit.edu	37	X	53250049	53250049	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:53250049G>A	uc004drz.3	-	1	733	c.200C>T	c.(199-201)cCc>cTc	p.P67L	KDM5C_uc022bxe.1_Intron|KDM5C_uc004dsa.3_Missense_Mutation_p.P67L	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	67					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGGATTCGGGGGGTAAACCT	0.507000			"""N, F, S"""		clear cell renal carcinoma									25			7		0	0	0.003080	0	0
FBN3	84467	broad.mit.edu	37	19	8203108	8203108	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:8203108G>A	uc002mjf.3	-	8	1135	c.1118C>T	c.(1117-1119)cCc>cTc	p.P373L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	373						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCAAGAGGGGGACCCATGCC	0.657000														39			12		0	0	0.013537	0	0
CCDC157	550631	broad.mit.edu	37	22	30772336	30772336	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr22:30772336G>A	uc011aku.2	+	11	2606	c.1946_splice	c.e11+1	p.G649_splice	CCDC157_uc011akv.2_Splice_Site_p.G649_splice|Em:AC004997.11_uc003aho.1_5'Flank	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	649										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						ACATCCCCAGGGTGAGTGAGG	0.577000														43			13		0	0	0.002450	0	0
KCNH7	90134	broad.mit.edu	37	2	163291874	163291874	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:163291874C>T	uc002uch.2	-	7	2017	c.1788G>A	c.(1786-1788)ggG>ggA	p.G596G	KCNH7_uc002uci.3_Silent_p.G589G	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	596					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGTAACGTTTCCCAATTTGCT	0.428000														48			13		0	0	0.002450	0	0
ABCC9	10060	broad.mit.edu	37	12	21968825	21968825	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:21968825G>A	uc001rfh.3	-	31	3915	c.3895C>T	c.(3895-3897)Cct>Tct	p.P1299S	ABCC9_uc001rfi.1_Missense_Mutation_p.P1299S	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1299					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D1298Y(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTGAGAAGGATCTGGAGGA	0.353000														34			11		0	0	0.013537	0	0
NRXN1	9378	broad.mit.edu	37	2	51254734	51254734	+	Silent	SNP	C	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:51254734C>G	uc021vhh.1	-	0	1599	c.678G>C	c.(676-678)ggG>ggC	p.G226G	NRXN1_uc021vhg.1_Silent_p.G226G|NRXN1_uc021vhi.1_Silent_p.G226G|NRXN1_uc021vhj.1_Silent_p.G226G|NRXN1_uc021vhk.1_Silent_p.G226G	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	226	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGAGGCACACCCCGCCCTCGC	0.706000														17			9		0	0	0.004482	0	0
ASPM	259266	broad.mit.edu	37	1	197074187	197074187	+	Silent	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:197074187A>G	uc001gtu.3	-	17	4451	c.4194T>C	c.(4192-4194)gtT>gtC	p.V1398V	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1398	IQ 2.				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						TCTGAATTGTAACTGTAGCCC	0.299000														62			17		0	0	0.007413	0	0
CDRT1	374286	broad.mit.edu	37	17	15516116	15516116	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:15516116C>T	uc002gor.1	-	10	2288	c.1951G>A	c.(1951-1953)Gat>Aat	p.D651N	CDRT1_uc002gov.4_Missense_Mutation_p.D341N			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	341										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TAATTAGGATCAATTCCTCTT	0.403000														82			13		0	0	0.013537	0	0
NMD3	51068	broad.mit.edu	37	3	160945082	160945082	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:160945082G>A	uc003feb.1	+	3	346	c.227G>A	c.(226-228)aGg>aAg	p.R76K	NMD3_uc003fec.3_Missense_Mutation_p.R76K|NMD3_uc003fed.1_Missense_Mutation_p.R76K	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	76					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTAGAATCCAGGGAACTTCTT	0.358000														41			7		0	0	0.003080	0	0
BCAN	63827	broad.mit.edu	37	1	156622499	156622499	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:156622499G>A	uc001fpp.3	+	7	2093	c.1757G>A	c.(1756-1758)gGa>gAa	p.G586E	BCAN_uc001fpo.3_Missense_Mutation_p.G586E	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	586					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGAGACAGGAAGCTCCGAG	0.622000														59			17		0	0	0.006122	0	0
AGFG2	3268	broad.mit.edu	37	7	100153358	100153358	+	Splice_Site	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:100153358G>A	uc003uvf.3	+	6	1013	c.877_splice	c.e6+1	p.G293_splice	AGFG2_uc003uvg.1_3'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	293					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTCCTGCAGGTAAACTCTG	0.507000														104			17		0	0	0.006122	0	0
WDFY3	23001	broad.mit.edu	37	4	85752612	85752612	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:85752612G>A	uc003hpd.3	-	7	1131	c.723C>T	c.(721-723)acC>acT	p.T241T	WDFY3_uc003hpf.3_Silent_p.T241T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	241						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)		GACGAGATATGGTCATGAGGA	0.388000														83			19		0	0	0.012319	0	0
H6PD	9563	broad.mit.edu	37	1	9324635	9324635	+	Missense_Mutation	SNP	G	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:9324635G>T	uc001apt.3	+	4	2356	c.2083G>T	c.(2083-2085)Gcc>Tcc	p.A695S		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	695	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GGGCATGGGTGCCGACGGGCA	0.682000														72			17		6.94344e-10	7.1446e-10	0.006122	1	0
PCDH18	54510	broad.mit.edu	37	4	138451643	138451643	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:138451643C>T	uc003ihe.4	-	0	1987	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	PCDH18_uc003ihf.4_Missense_Mutation_p.D527N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D314N|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	534	Cadherin 5.				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)					TCTTCATGATCAAAGATTCTG	0.423000														87			12		0	0	0.002450	0	0
TAAR5	9038	broad.mit.edu	37	6	132910326	132910326	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:132910326G>A	uc003qdk.2	-	0	552	c.500C>T	c.(499-501)tCg>tTg	p.S167L		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	167					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.S167*(2)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GAGGAATAACGAAGTGTATGC	0.547000														69			25		0	0	0.004656	0	0
STARD4	134429	broad.mit.edu	37	5	110836762	110836762	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:110836762G>A	uc003kph.1	-	4	419	c.335C>T	c.(334-336)tCc>tTc	p.S112F	STARD4_uc010jbw.1_Missense_Mutation_p.S14F|STARD4_uc010jbx.1_Missense_Mutation_p.S14F|STARD4_uc003kpi.1_Intron|STARD4_uc003kpj.2_Missense_Mutation_p.S112F	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	112	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TTCTCTTGGGGAAATTATATT	0.353000														107			20		0	0	0.012319	0	0
IL37	27178	broad.mit.edu	37	2	113675263	113675263	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:113675263G>A	uc002tij.3	+	3	359	c.317G>A	c.(316-318)gGa>gAa	p.G106E	IL37_uc002tim.3_Missense_Mutation_p.G45E|IL37_uc002tik.3_Missense_Mutation_p.G85E|IL37_uc002til.3_Missense_Mutation_p.G66E|IL37_uc002tin.3_Missense_Mutation_p.G80E	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	106					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						GCGGAGAAAGGAAGTCCGATT	0.483000														139			34		0	0	0.012213	0	0
POLE	5426	broad.mit.edu	37	12	133212577	133212577	+	Silent	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:133212577T>C	uc001uks.1	-	41	5756	c.5712A>G	c.(5710-5712)acA>acG	p.T1904T	POLE_uc001ukq.1_Silent_p.T114T|POLE_uc001ukr.1_Silent_p.T708T|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1904					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAAAGAAATTGTCAGAGAAT	0.428000								DNA polymerases (catalytic subunits)						45			11		0	0	0.013537	0	0
ZFAT	57623	broad.mit.edu	37	8	135614828	135614828	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:135614828G>A	uc003yup.3	-	5	1320	c.1134C>T	c.(1132-1134)gaC>gaT	p.D378D	ZFAT_uc003yun.3_Silent_p.D366D|ZFAT_uc003yuo.3_Silent_p.D366D|ZFAT_uc010meh.3_Silent_p.D366D|ZFAT_uc010mej.3_Silent_p.D316D|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.D366D|ZFAT_uc003yur.3_Silent_p.D366D	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGTCCTGTGGGTCATGCGCGT	0.557000														61			18		0	0	0.010504	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345724	11345724	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:11345724C>T	uc001asg.3	+	1	887	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	185					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GTACGTGGCTCTGGGAGACCT	0.547000														42			9		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540261	96540261	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:96540261C>T	uc010qnz.2	+	3	487	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S	CYP2C19_uc009xus.1_Missense_Mutation_p.P28S|CYP2C19_uc010qny.2_Missense_Mutation_p.P141S	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	163					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTTAGCTTCACCCTGTGATCC	0.313000														99			19		0	0	0.012319	0	0
BCKDHA	593	broad.mit.edu	37	19	41916585	41916585	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:41916585A>T	uc002oqq.3	+	1	191	c.152A>T	c.(151-153)aAg>aTg	p.K51M	BCKDHA_uc002oqm.4_Missense_Mutation_p.K85M|BCKDHA_uc002oqp.2_5'UTR|BCKDHA_uc002oqr.3_Missense_Mutation_p.K51M|BCKDHA_uc010xvz.2_Missense_Mutation_p.K29M	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CTGGATGACAAGCCCCAGTTC	0.577000														64			13		0	0	0.002450	0	0
SIAH3	283514	broad.mit.edu	37	13	46358027	46358027	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:46358027G>A	uc001vap.3	-	1	383	c.301C>T	c.(301-303)Ccg>Tcg	p.P101S		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	101					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GGCGTCACCGGGTTGGCGTGC	0.682000														44			31		0	0	0.009535	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767784	77767784	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:77767784A>G	uc003yau.2	+	9	9014	c.8627A>G	c.(8626-8628)aAt>aGt	p.N2876S	ZFHX4_uc003yaw.1_Missense_Mutation_p.N2831S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2831						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2876L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCCATTTCAATGACAAAGAT	0.512000										HNSCC(33;0.089)				34			9		0	0	0.010729	0	0
ZNF341	84905	broad.mit.edu	37	20	32357965	32357965	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:32357965C>T	uc002wzy.3	+	9	1509	c.1489C>T	c.(1489-1491)Cac>Tac	p.H497Y	ZNF341_uc002wzx.3_Missense_Mutation_p.H490Y|ZNF341_uc010geq.3_Missense_Mutation_p.H407Y|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CATCAAGAGCCACCAGGAGGA	0.597000														31			13		0	0	0.002450	0	0
USP9Y	8287	broad.mit.edu	37	Y	14838532	14838532	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrY:14838532C>T	uc004fst.1	+	6	1408	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	USP9Y_uc010nwu.1_Non-coding_Transcript	NM_004654	NP_004645	O00507	USP9Y_HUMAN	Homo sapiens ubiquitin specific peptidase 9, Y-linked (USP9Y), mRNA.	155					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATACTCATCGCCTAGTGGA	0.348000														21			13		0	0	0.002450	0	0
FER1L6	654463	broad.mit.edu	37	8	125076659	125076659	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:125076659C>T	uc003yqw.3	+	25	3606	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1134						integral to membrane		p.D1133N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCAGCAGATCACATTTATGT	0.572000														125			28		0	0	0.009535	0	0
FAM5C	339479	broad.mit.edu	37	1	190234128	190234128	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:190234128C>T	uc001gse.1	-	3	717	c.485G>A	c.(484-486)gGa>gAa	p.G162E	FAM5C_uc010pot.1_Missense_Mutation_p.G60E	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	162						extracellular region		p.E161*(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGAATCACTTCCTTCAGCTCG	0.428000														32			9		0	0	0.008291	0	0
DNAH9	1770	broad.mit.edu	37	17	11687739	11687739	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:11687739C>T	uc002gne.3	+	40	8012	c.7944C>T	c.(7942-7944)atC>atT	p.I2648I	DNAH9_uc010coo.3_Silent_p.I1942I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2648	AAA 3 (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)		AGAAATCCATCCCCCCACTGA	0.532000														143			30		0	0	0.013726	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957827	120957827	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:120957827C>T	uc003eec.4	+	12	1334	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	STXBP5L_uc011bji.2_Silent_p.I398I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	398					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTTTCCAATCTTTGAAAATC	0.308000														24			4		0	0	0.009096	0	0
RSPH9	221421	broad.mit.edu	37	6	43612929	43612929	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:43612929C>T	uc003ovx.2	+	0	163	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F	RSPH9_uc003ovw.2_Missense_Mutation_p.L32F	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	32					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTCACGTCTCTTATGCTGGT	0.642000									Kartagener syndrome					73			21		0	0	0.016522	0	0
EPPK1	83481	broad.mit.edu	37	8	144940581	144940581	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:144940581G>A	uc003zaa.1	-	0	6854	c.6841C>T	c.(6841-6843)Ctg>Ttg	p.L2281L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2281						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)			TCCACCGACAGCCTCAGGTTG	0.736000														92			9		0	0	0.004482	0	0
HDC	3067	broad.mit.edu	37	15	50535170	50535170	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:50535170C>T	uc001zxz.3	-	11	1618	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	HDC_uc001zxy.3_Missense_Mutation_p.E169K|HDC_uc010uff.2_Missense_Mutation_p.E393K	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	426					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)	TTAGCTATTTCCTTTAACACA	0.473000														50			13		0	0	0.002450	0	0
TLL2	7093	broad.mit.edu	37	10	98154973	98154973	+	Missense_Mutation	SNP	T	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:98154973T>G	uc001kml.2	-	12	1938	c.1697A>C	c.(1696-1698)aAa>aCa	p.K566T	TLL2_uc009xvf.2_Missense_Mutation_p.K544T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	566	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAAGCCCGCTTTATTGATAGA	0.468000														130			27		0	0	0.009535	0	0
ATG5	9474	broad.mit.edu	37	6	106696042	106696042	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:106696042G>A	uc003prf.3	-	5	909	c.556C>T	c.(556-558)Ccc>Tcc	p.P186S	ATG5_uc010kdb.3_Silent_p.S184S|ATG5_uc003prg.3_Missense_Mutation_p.P108S|ATG5_uc010kdc.3_Silent_p.S62S	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	186					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		ATTCTAAAGGGGATATAACGA	0.328000														49			4		0	0	0.009096	0	0
C1S	716	broad.mit.edu	37	12	7177170	7177170	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:7177170C>T	uc001qsj.3	+	14	2001	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S	C1S_uc001qsk.3_Missense_Mutation_p.P428S|C1S_uc001qsl.3_Missense_Mutation_p.P428S|C1S_uc009zfr.3_Missense_Mutation_p.P261S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	428					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGTGGAGTCCCCAGAGAACC	0.458000														67			21		0	0	0.003330	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045748	26045748	+	Missense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:26045748A>T	uc003nfv.3	+	0	110	c.110A>T	c.(109-111)aAg>aTg	p.K37M	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	37					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GGTGGCGTGAAGAAACCTCAT	0.632000														68			14		0	0	0.001855	0	0
FAAH2	158584	broad.mit.edu	37	X	57515352	57515352	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:57515352C>T	uc004dvc.3	+	10	1735	c.1586C>T	c.(1585-1587)cCa>cTa	p.P529L		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	529						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TGGGTCTGTCCAGGAAAGTTT	0.488000										HNSCC(52;0.14)				21			12		0	0	0.013537	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171438	39171438	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr9:39171438G>A	uc004abi.3	-	7	1500	c.1261C>T	c.(1261-1263)Ctc>Ttc	p.L421F	CNTNAP3_uc004abj.3_Missense_Mutation_p.L421F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.L421F|CNTNAP3_uc011lqs.1_Missense_Mutation_p.L421F	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	421	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTAAGAAAGAGGACGAAACTC	0.483000														84			15		0	0	0.002450	0	0
TINAG	27283	broad.mit.edu	37	6	54173382	54173382	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:54173382T>C	uc003pcj.2	+	0	180	c.34T>C	c.(34-36)Tat>Cat	p.Y12H	TINAG_uc003pci.3_Missense_Mutation_p.Y12H|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	12					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AATCTTCTCTTATCTTACTAC	0.413000														48			10		0	0	0.006214	0	0
TCRA	0	broad.mit.edu	37	14	22555063	22555063	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:22555063G>A	uc001wcz.1	+	1	249	c.189G>A	c.(187-189)tgG>tgA	p.W63*	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'UTR					SubName: Full=HADV23S1; Flags: Fragment;																		ACTTTCCATGGTACCAACAAT	0.398000														15			3		0	0	0.004672	0	0
CSMD2	114784	broad.mit.edu	37	1	33998709	33998709	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:33998709G>A	uc001bxm.1	-	63	10289	c.10112C>T	c.(10111-10113)tCc>tTc	p.S3371F	CSMD2_uc001bxn.1_Missense_Mutation_p.S3227F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3227						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGGTGCTCGGAGCCACCCTT	0.667000														24			6		0	0	0.001168	0	0
NAA11	84779	broad.mit.edu	37	4	80246900	80246900	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:80246900G>A	uc003hlt.4	-	0	272	c.132C>T	c.(130-132)atC>atT	p.I44I	NAA11_uc021xpl.1_Silent_p.I44I	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	44	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CATCCTCAGCGATGTAAGAAA	0.488000														91			16		0	0	0.004990	0	0
USP33	23032	broad.mit.edu	37	1	78180395	78180395	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:78180395G>A	uc001dht.3	-	19	2559	c.2212C>T	c.(2212-2214)Ctt>Ttt	p.L738F	USP33_uc001dhs.3_Missense_Mutation_p.L459F|USP33_uc001dhu.3_Missense_Mutation_p.L707F|USP33_uc001dhv.3_Missense_Mutation_p.L543F|USP33_uc001dhw.3_Missense_Mutation_p.L730F	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	738	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAACTGAAGGAGGCTTGGT	0.353000														50			18		0	0	0.006122	0	0
CLSTN1	22883	broad.mit.edu	37	1	9809659	9809659	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:9809659G>A	uc001aqh.3	-	6	1604	c.845C>T	c.(844-846)gCc>gTc	p.A282V	CLSTN1_uc001aqi.3_Missense_Mutation_p.A272V|CLSTN1_uc010oag.2_Missense_Mutation_p.A282V	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	282					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TGGAAAGACGGCCAACGCGCC	0.552000														70			9		0	0	0.004482	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139246	72139246	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:72139246C>T	uc001xms.3	+	8	3372	c.3011C>T	c.(3010-3012)aCt>aTt	p.T1004I	SIPA1L1_uc001xmt.3_Missense_Mutation_p.T1004I|SIPA1L1_uc001xmu.3_Missense_Mutation_p.T1004I|SIPA1L1_uc001xmv.3_Missense_Mutation_p.T1004I|SIPA1L1_uc010ttm.2_Missense_Mutation_p.T479I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1004	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCGGTAGCCACTCTGAGCCAT	0.607000														36			16		0	0	0.003163	0	0
DCDC5	100506627	broad.mit.edu	37	11	30953326	30953326	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:30953326C>T	uc009yjk.1	-	9	1302	c.1233G>A	c.(1231-1233)cgG>cgA	p.R411R	DCDC5_uc021qfk.1_Silent_p.R70R|DCDC5_uc009yjl.1_3'UTR	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	42					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ACTGCGTTTTCCGTCCAGGTG	0.383000														32			6		0	0	0.003080	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514947	233514947	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:233514947C>T	uc001hvt.4	+	8	2456	c.2195C>T	c.(2194-2196)tCg>tTg	p.S732L	KIAA1804_uc001hvu.4_Missense_Mutation_p.S178L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	732					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CTTCTGGCATCGGTGGCTCTG	0.517000														46			13		0	0	0.001855	0	0
TRIM15	89870	broad.mit.edu	37	6	30131610	30131610	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:30131610C>T	uc010jrx.3	+	0	628	c.149C>T	c.(148-150)tCc>tTc	p.S50F	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	50					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGGGCCCAATCCTCGGGCAAG	0.672000														63			6		0	0	0.003080	0	0
ABCG8	64241	broad.mit.edu	37	2	44079912	44079912	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:44079912C>T	uc002rtq.3	+	5	959	c.869C>T	c.(868-870)aCc>aTc	p.T290I	ABCG8_uc010yoa.2_Missense_Mutation_p.T290I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	290	ABC transporter.				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	p.T290N(2)		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)				ACGTCTGGCACCCCCATCTAC	0.582000														393			70		0	0	0.014410	0	0
PKDCC	91461	broad.mit.edu	37	2	42280438	42280439	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:42280438_42280439GG>AA	uc002rsg.3	+	1	878_879	c.699_700GG>AA	c.(697-702)acggag>acAAag	p.E234K		NM_138370	NP_612379	Q504Y2	PKDCC_HUMAN	Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA.	234	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CCACCATCACGGAGCTGGGCGC	0.614000														114			16		0	0	0.004672	0	0
KCNMA1	3778	broad.mit.edu	37	10	78870041	78870041	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:78870041C>T	uc001jxn.3	-	7	1198	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	KCNMA1_uc021ptu.1_Missense_Mutation_p.E287K|KCNMA1_uc001jxj.2_Missense_Mutation_p.E341K|KCNMA1_uc001jxk.1_5'UTR|KCNMA1_uc009xrt.1_Missense_Mutation_p.E161K|KCNMA1_uc001jxl.1_5'UTR|KCNMA1_uc001jxo.3_Missense_Mutation_p.E341K|KCNMA1_uc001jxm.3_Missense_Mutation_p.E341K|KCNMA1_uc001jxq.3_Missense_Mutation_p.E341K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	341					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAGACACATTCCCAGTAGGTG	0.453000														194			28		0	0	0.010818	0	0
MPP7	143098	broad.mit.edu	37	10	28413025	28413025	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:28413025C>T	uc001iua.1	-	9	954	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E184K|MPP7_uc009xla.2_Missense_Mutation_p.E184K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	184	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCCTAAGTTCATCACCAACA	0.358000														87			22		0	0	0.003330	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040755	65040755	+	Missense_Mutation	SNP	C	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr15:65040755C>A	uc002anq.3	-	5	682	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	144							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGAGCAGCCCCCATCAGGTCA	0.587000														63			21		0.000295444	0.000301593	0.014323	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86509800	86509800	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:86509800G>A	uc011kha.2	-	21	3262	c.3077C>T	c.(3076-3078)tCc>tTc	p.S1026F	KIAA1324L_uc003uie.3_Missense_Mutation_p.S859F|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S912F|KIAA1324L_uc003uif.2_Missense_Mutation_p.S778F	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	1026						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATATTTGGGGATCTTGAGGT	0.348000														48			11		0	0	0.010729	0	0
SPDYC	387778	broad.mit.edu	37	11	64940289	64940289	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:64940289C>T	uc010rnz.2	+	5	651	c.651C>T	c.(649-651)tcC>tcT	p.S217S		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	217					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCCACTGTTCCCCCTGTGGTT	0.647000														44			16		0	0	0.003163	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766041	18766041	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:18766041C>T	uc010exr.3	-	3	580	c.468G>A	c.(466-468)gaG>gaA	p.E156E	NT5C1B-RDH14_uc002rcy.3_Silent_p.E214E|NT5C1B-RDH14_uc010yju.2_Silent_p.E154E|NT5C1B-RDH14_uc002rcz.3_Silent_p.E214E|NT5C1B-RDH14_uc010yjw.2_Silent_p.E197E|NT5C1B-RDH14_uc010yjv.2_Silent_p.E231E|NT5C1B-RDH14_uc010exs.3_Silent_p.E216E|NT5C1B-RDH14_uc002rda.3_Silent_p.E154E|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.E6E	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	214	Ser-rich.				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										GGGCCCAGGCCTCCGGATTCT	0.697000														43			6		0	0	0.001984	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335031	42335031	+	Missense_Mutation	SNP	A	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr17:42335031A>C	uc002igf.4	-	11	1576	c.1427T>G	c.(1426-1428)tTc>tGc	p.F476C	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	476	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AACTACCGAGAAGAAGGCTTC	0.612000														20			4		0	0	0.009096	0	0
ADAD1	132612	broad.mit.edu	37	4	123317448	123317448	+	Nonsense_Mutation	SNP	A	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:123317448A>T	uc003ieo.3	+	6	872	c.640A>T	c.(640-642)Aaa>Taa	p.K214*	ADAD1_uc003iep.3_Nonsense_Mutation_p.K214*|ADAD1_uc003ieq.3_Nonsense_Mutation_p.K196*	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	214					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.V213A(1)|p.V213I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACAGATCGTTAAAGAAAGATT	0.308000														23			7		0	0	0.003080	0	0
SYT6	148281	broad.mit.edu	37	1	114646258	114646258	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:114646258C>T	uc021osa.1	-	3	1235	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	SYT6_uc021orz.1_Missense_Mutation_p.R301Q|SYT6_uc001eev.3_Missense_Mutation_p.R301Q	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	386	C2 2.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGAGGTTCCGACACTTAAT	0.537000														69			9		0	0	0.004482	0	0
COCH	1690	broad.mit.edu	37	14	31354664	31354664	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:31354664C>T	uc001wqr.2	+	9	878	c.798C>T	c.(796-798)atC>atT	p.I266I	COCH_uc001wqp.2_Silent_p.I266I|COCH_uc001wqq.4_Silent_p.I266I|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Silent_p.I117I	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	266	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix		p.G265G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GAAAAGGGATCCCCAAAGTGG	0.408000														55			13		0	0	0.001855	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17067464	17067464	+	Nonsense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:17067464C>T	uc003wxe.3	+	8	1151	c.754C>T	c.(754-756)Cga>Tga	p.R252*		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	252						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TCCAGTATTTCGACATGGAAC	0.343000														10			7		0	0	0.003080	0	0
SLC6A16	28968	broad.mit.edu	37	19	49813343	49813343	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:49813343G>A	uc002pmz.3	-	3	888	c.654C>T	c.(652-654)ccC>ccT	p.P218P	SLC6A16_uc002pna.3_Silent_p.P218P|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	218						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCCATGGAACGGGAAACTGGA	0.478000														77			14		0	0	0.004990	0	0
PROSC	11212	broad.mit.edu	37	8	37633494	37633494	+	Missense_Mutation	SNP	T	C	C			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:37633494T>C	uc003xkh.3	+	6	733	c.656T>C	c.(655-657)gTt>gCt	p.V219A		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	219							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GCTGACCAGGTTGAGCTGAGC	0.567000														121			22		0	0	0.003330	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955419	18955419	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr11:18955419C>T	uc001mpg.3	-	0	1131	c.913G>A	c.(913-915)Gga>Aga	p.G305R		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	305					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTGCCCTCCACCTTCATCC	0.552000														80			13		0	0	0.001855	0	0
RUFY4	285180	broad.mit.edu	37	2	218940409	218940409	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:218940409C>T	uc010fvl.2	+	8	1712	c.1194C>T	c.(1192-1194)acC>acT	p.T398T	RUFY4_uc002vgw.3_Silent_p.T225T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	398							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CAGAAGTGACCCTTGTGGCCA	0.572000														79			16		0	0	0.008871	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948278	119948278	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:119948278C>T	uc010inb.3	+	2	950	c.754C>T	c.(754-756)Cct>Tct	p.P252S	SYNPO2_uc010ina.3_Missense_Mutation_p.P252S|SYNPO2_uc003icm.4_Missense_Mutation_p.P252S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P180S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	252						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAAGCAGACCCTTTCCTGAG	0.507000														44			4		0	0	0.009096	0	0
CELSR3	1951	broad.mit.edu	37	3	48677785	48677785	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:48677785C>T	uc003cuf.1	-	35	9527	c.9527G>A	c.(9526-9528)cGg>cAg	p.R3176Q	CELSR3_uc010hkf.3_Missense_Mutation_p.R368Q|CELSR3_uc010hkg.3_Missense_Mutation_p.R1061Q|CELSR3_uc003cul.3_Missense_Mutation_p.R3078Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3078					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTCAGTTGCCGCCGGAGGAG	0.647000														127			20		0	0	0.007413	0	0
GFRA3	2676	broad.mit.edu	37	5	137600092	137600092	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:137600092C>T	uc003lcn.3	-	1	377	c.237G>A	c.(235-237)gaG>gaA	p.E79E	GFRA3_uc003lco.3_Silent_p.E79E	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	79					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGACCGAAGGCTCCTCTGAGG	0.607000														24			18		0	0	0.008871	0	0
PTPRB	5787	broad.mit.edu	37	12	70960386	70960386	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:70960386C>T	uc001swb.4	-	12	3109	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	PTPRB_uc010sto.2_Intron|PTPRB_uc010stp.2_Missense_Mutation_p.D937N|PTPRB_uc001swc.4_Missense_Mutation_p.D1245N|PTPRB_uc001swa.4_Missense_Mutation_p.D1157N|PTPRB_uc001swd.4_Missense_Mutation_p.D1244N|PTPRB_uc009zrr.2_Missense_Mutation_p.D1124N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1027	Fibronectin type-III 12.				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)			AGCAGGATATCATATCTTTCT	0.423000														70			19		0	0	0.007413	0	0
MUC13	56667	broad.mit.edu	37	3	124642407	124642407	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:124642407C>T	uc003ehq.2	-	2	640	c.601G>A	c.(601-603)Ggg>Agg	p.G201R		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	201	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TAGTAATACCCTTCTAAACAC	0.418000														57			8		0	0	0.003080	0	0
COL6A3	1293	broad.mit.edu	37	2	238275864	238275864	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:238275864G>A	uc002vwl.2	-	10	5251	c.4966C>T	c.(4966-4968)Cag>Tag	p.Q1656*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.Q1450*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Q1049*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1656	Nonhelical region.|VWFA 9.				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)		AGCACTTCCTGGAAACTGTCC	0.438000														33			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179486223	179486223	+	Missense_Mutation	SNP	C	T	T	rs17354992	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:179486223C>T	uc021vsy.1	-	193	37849	c.37624G>A	c.(37624-37626)Gat>Aat	p.D12542N	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D6237N|TTN_uc021vta.1_Missense_Mutation_p.D6170N|TTN_uc021vtb.1_Missense_Mutation_p.D6045N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13469	Ig-like 83.						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)			ACTTTGCCATCGGTTCGAGAG	0.398000														54			13		0	0	0.003163	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793136	217793136	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:217793136G>A	uc001hlf.1	-	1	858	c.762C>T	c.(760-762)ctC>ctT	p.L254L	GPATCH2_uc001hlg.4_Silent_p.L254L	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	254						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTTCACTCATGAGCTCATCTG	0.294000														34			4		0	0	0.009096	0	0
BMP15	9210	broad.mit.edu	37	X	50659565	50659565	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:50659565G>A	uc011mnw.2	+	1	1186	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	379					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TTTTGTACAAGGAGTATGAGG	0.458000														30			9		0	0	0.008291	0	0
MDN1	23195	broad.mit.edu	37	6	90397082	90397082	+	Missense_Mutation	SNP	A	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:90397082A>G	uc003pnn.1	-	67	11547	c.11431T>C	c.(11431-11433)Tgg>Cgg	p.W3811R		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3811					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTTACGCCACCGAATGATC	0.378000														47			6		0	0	0.001984	0	0
CXXC11	285093	broad.mit.edu	37	2	242814358	242814358	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:242814358C>T	uc010fzu.1	+	1	674	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	217						integral to membrane											ACCAGGTGCCCATCGCTGAGG	0.672000														51			15		0	0	0.004007	0	0
NR1H4	9971	broad.mit.edu	37	12	100904774	100904774	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:100904774G>A	uc001tht.2	+	1	356	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	NR1H4_uc001thq.2_Missense_Mutation_p.E100K|NR1H4_uc001thp.2_Missense_Mutation_p.E100K|NR1H4_uc001thr.2_Missense_Mutation_p.E100K|NR1H4_uc010svk.2_Missense_Mutation_p.E100K|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.E110K	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	110					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTACCAGGGAGAAACTGAGGT	0.527000														71			9		0	0	0.008291	0	0
ICAM5	7087	broad.mit.edu	37	19	10403726	10403726	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:10403726G>A	uc002mnu.4	+	5	1334	c.1269G>A	c.(1267-1269)gaG>gaA	p.E423E	ICAM5_uc002mnv.4_Silent_p.E298E	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	423	Ig-like C2-type 5.				cell-cell adhesion	integral to plasma membrane		p.E423K(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGTGGCCCGAGGGCCCAGAGC	0.692000														66			16		0	0	0.004007	0	0
ENOX1	55068	broad.mit.edu	37	13	43935540	43935540	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:43935540C>T	uc001uza.4	-	5	557	c.257G>A	c.(256-258)gGa>gAa	p.G86E	ENOX1_uc001uzc.4_Missense_Mutation_p.G86E|ENOX1_uc001uzb.4_Missense_Mutation_p.G86E|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	86					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGGGGTGATTCCAGTCATCAT	0.433000														70			9		0	0	0.010729	0	0
PRSS37	136242	broad.mit.edu	37	7	141536960	141536960	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:141536960C>T	uc003vws.2	-	3	891	c.519G>A	c.(517-519)agG>agA	p.R173R	PRSS37_uc011krl.2_Silent_p.R172R|PRSS37_uc011krk.2_Silent_p.R160R|PRSS37_uc003vwt.2_Silent_p.R160R	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	173	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						ATAAGGAATTCCTGTGGCTTT	0.453000														56			6		0	0	0.001168	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146345	70146345	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:70146345C>T	uc003hej.3	+	0	129	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	UGT2B28_uc010ihr.3_Silent_p.L43L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	43					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAAGACAATCCTGAAAGAGCT	0.448000														57			24		0	0	0.003954	0	0
NLRP2	55655	broad.mit.edu	37	19	55496462	55496462	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:55496462C>T	uc021vbq.1	+	6	2189	c.2078C>T	c.(2077-2079)tCc>tTc	p.S693F	NLRP2_uc010yfp.2_Missense_Mutation_p.S670F|NLRP2_uc002qij.3_Missense_Mutation_p.S693F|NLRP2_uc010esp.3_Missense_Mutation_p.S671F|NLRP2_uc010esn.3_Missense_Mutation_p.S669F|NLRP2_uc010eso.3_Missense_Mutation_p.S690F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	693					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)		GACCTTTGTTCCATATTTGGA	0.448000														90			20		0	0	0.008871	0	0
CD109	135228	broad.mit.edu	37	6	74407162	74407162	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr6:74407162C>T	uc003php.3	+	1	545	c.114C>T	c.(112-114)ccC>ccT	p.P38P	CD109_uc003phq.3_Silent_p.P38P|CD109_uc010kba.3_Silent_p.P38P|AK124950_uc003pho.1_5'Flank	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	38						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCATCAGGCCCGGAGGAAATG	0.502000														106			41		0	0	0.010771	0	0
RFC1	5981	broad.mit.edu	37	4	39304170	39304170	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr4:39304170G>A	uc003gty.2	-	17	2529	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	RFC1_uc003gtx.2_Missense_Mutation_p.P796S	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	797					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATAGCTGGAGGGGGAATCTTT	0.318000														33			7		0	0	0.004482	0	0
CA1	759	broad.mit.edu	37	8	86250493	86250493	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:86250493C>T	uc022axc.1	-	1	302	c.223G>A	c.(223-225)Gat>Aat	p.D75N	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.D75N|CA1_uc022axd.1_Missense_Mutation_p.D75N|CA1_uc010mae.2_Missense_Mutation_p.D75N|CA1_uc003ydi.3_Missense_Mutation_p.D75N	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	75				DN -> ND (in Ref. 4; AA sequence and 5; AA sequence).	one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GATCGGTTATCGTTGTCCTCA	0.398000														153			31		0	0	0.010818	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004814	75004814	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:75004814C>T	uc004ecj.2	-	0	266	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	25										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTTGTATTTCACCTCTGCCG	0.577000														17			10		0	0	0.006214	0	0
CCNB3	85417	broad.mit.edu	37	X	50094333	50094333	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chrX:50094333G>A	uc004dox.4	+	11	4352	c.4054G>A	c.(4054-4056)Gat>Aat	p.D1352N	CCNB3_uc004doy.3_Missense_Mutation_p.D1352N|CCNB3_uc004doz.3_Missense_Mutation_p.D248N|CCNB3_uc010njq.3_Missense_Mutation_p.D244N|CCNB3_uc004dpa.3_Missense_Mutation_p.D191N	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1352					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.Y1351H(1)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGTTCTTACGATAGTCTCAA	0.453000														61			36		0	0	0.003755	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr12:126138387G>A	uc001uhe.1	+	8	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E302K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	790						integral to membrane		p.E790K(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423000														49			16		0	0	0.006122	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832359	47832359	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr7:47832359C>T	uc003tny.2	-	55	8426	c.8392G>A	c.(8392-8394)Gaa>Aaa	p.E2798K	C7orf69_uc003tnz.4_5'Flank|C7orf69_uc003toa.1_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2798					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCAGAAGTTCGTCTAACAGA	0.403000														36			10		0	0	0.010729	0	0
PSG7	5676	broad.mit.edu	37	19	43439767	43439767	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr19:43439767C>T	uc002ovl.4	-	1	321	c.219G>A	c.(217-219)agG>agA	p.R73R	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	73	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				GGTAGAGGTCCCTGATTTGTC	0.428000														165			41		0	0	0.006999	0	0
CCDC147	159686	broad.mit.edu	37	10	106207461	106207461	+	Silent	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:106207461G>A	uc001kyh.3	+	15	2396	c.2262G>A	c.(2260-2262)aaG>aaA	p.K754K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	754										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAGGAAAAGGAGAAACTCT	0.542000														82			15		0	0	0.002450	0	0
NBEA	26960	broad.mit.edu	37	13	35758160	35758160	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr13:35758160C>T	uc021rid.1	+	29	5413	c.4879C>T	c.(4879-4881)Ctt>Ttt	p.L1627F	NBEA_uc021ric.1_Missense_Mutation_p.L1624F|NBEA_uc010abi.3_Intron	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1627						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCATGGATTCCTTGCCAAGTT	0.413000														41			7		0	0	0.004482	0	0
RNF152	220441	broad.mit.edu	37	18	59483693	59483693	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:59483693C>T	uc002lih.1	-	1	416	c.4G>A	c.(4-6)Gag>Aag	p.E2K	RNF152_uc021ula.1_Missense_Mutation_p.E2K	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	2					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				GACAGCGTCTCCATGGTGGAC	0.587000														85			15		0	0	0.004990	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430661	37430661	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:37430661G>A	uc021ppc.1	+	6	767	c.668G>A	c.(667-669)gGa>gAa	p.G223E	ANKRD30A_uc001iza.1_Missense_Mutation_p.G223E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	279						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						ACATCTGCAGGAACACCTGAT	0.463000														28			8		0	0	0.003080	0	0
WDR96	80217	broad.mit.edu	37	10	105893391	105893391	+	Missense_Mutation	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:105893391C>T	uc001kxw.3	-	34	4699	c.4583G>A	c.(4582-4584)aGa>aAa	p.R1528K	WDR96_uc009xxq.3_Missense_Mutation_p.R807K	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1528										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGACGATCTCTTGAAAAAAA	0.328000														34			5		0	0	0.001168	0	0
GHR	2690	broad.mit.edu	37	5	42719299	42719299	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr5:42719299G>A	uc021xxv.1	+	9	1848	c.1711G>A	c.(1711-1713)Gac>Aac	p.D571N	GHR_uc003jmt.3_Missense_Mutation_p.D564N|GHR_uc003jmu.3_Missense_Mutation_p.D564N|GHR_uc003jmv.2_Missense_Mutation_p.D564N|GHR_uc021xxw.1_Missense_Mutation_p.D564N|GHR_uc021xxx.1_Missense_Mutation_p.D564N|GHR_uc021xxy.1_Missense_Mutation_p.D564N|GHR_uc021xxz.1_Missense_Mutation_p.D564N|GHR_uc021xya.1_Missense_Mutation_p.D564N|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.D377N|GHR_uc021xyd.1_Missense_Mutation_p.D542N	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	564					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAACCAAGAGGACATTTACAT	0.502000														19			3		0	0	0.004672	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	G	G	rs12107841	by1000genomes	TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000														45			4		0	0	0.009096	0	0
C1orf158	93190	broad.mit.edu	37	1	12820745	12820745	+	Missense_Mutation	SNP	G	A	A			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr1:12820745G>A	uc001auh.3	+	3	662	c.446G>A	c.(445-447)aGa>aAa	p.R149K		NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	149										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCAAGCAGAGACAGCTCACA	0.542000														49			6		0	0	0.001168	0	0
C18orf1	753	broad.mit.edu	37	18	13438253	13438253	+	Silent	SNP	C	T	T			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr18:13438253C>T	uc002ksa.2	+	3	719	c.51C>T	c.(49-51)ttC>ttT	p.F17F	C18orf1_uc002ksb.2_Silent_p.F17F	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	17	LDL-receptor class A.					integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		AGTGCAAATTCACCTGCACCA	0.458000														53			12		0	0	0.010729	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454244	48454245	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:48454244_48454245CC>TT	uc003csw.2	-	24	5030_5031	c.4760_4761GG>AA	c.(4759-4761)cgg>cAA	p.R1587Q	PLXNB1_uc003cst.2_Missense_Mutation_p.R37Q|PLXNB1_uc003csu.2_Missense_Mutation_p.R1404Q|PLXNB1_uc003csx.2_Missense_Mutation_p.R1587Q	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1587					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCCAGGTCCCGGTGCAAGGG	0.629000														39			7		0	0	0.004672	0	0
MIR663B	100313824	broad.mit.edu	37	2	133014651	133014652	+	Splice_Site	INS	-	C	C	rs150907057		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr2:133014651_133014652insC	uc021vpu.1	-	1		c.1_splice	c.e1-1		ANKRD30BL_uc002ttj.3_Intron					Homo sapiens microRNA 663b (MIR663B), microRNA.																		GGCCCTCGGCACCACCGAGACC	0.678													---	13	---	---	11	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	-	-			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr3:49723322_49723327delGCGCTG	uc003cxg.3	-	9	1288_1293	c.1216_1221delCAGCGC	c.(1216-1221)cagcgcdel	p.QR406del	MST1_uc011bcs.1_In_Frame_Del_p.444_446ASA>A	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													---	194	---	---	8	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	-	-	rs11270020		TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.3	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zci.3_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA.	423						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													---	5	---	---	3	---					
PRLHR	2834	broad.mit.edu	37	10	120353838	120353839	+	Frame_Shift_Ins	INS	-	G	G			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr10:120353838_120353839insG	uc001ldp.1	-	1	1057_1058	c.918_919insC	c.(916-921)cacgccfs	p.H306fs	PRLHR_uc021pzm.1_Frame_Shift_Ins_p.H306fs	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	306					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	p.A307P(2)|p.H306H(2)|p.A307V(1)		large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGGTCGATGGCGTGGGGGTCGA	0.649													---	67	---	---	14	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	3	---	---	3	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GN-A269-01A-11D-A19A-08	TCGA-GN-A269-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b8e00a4-a509-48ef-bc77-34845b51bb9d	b21836b0-f16e-4eec-a83c-fb42f836194a	g.chr20:56099187delT	uc010giw.1	-	1	186	c.75delA	c.(73-75)aaafs	p.K25fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.K25fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Intron|CTCFL_uc010gjh.2_Frame_Shift_Del_p.K25fs|CTCFL_uc010gji.2_Intron|CTCFL_uc010gjj.2_Frame_Shift_Del_p.K25fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.K25fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.K25fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.K25fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	25					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)			CCTTCAGGCCTTTTTCCGGCA	0.502													---	576	---	---	7	---