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
ROCK1	6093	broad.mit.edu	37	18	18622602	18622602	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:18622602G>A	uc002kte.3	-	6	1685	c.744C>T	c.(742-744)tcC>tcT	p.S248S		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	248	Protein kinase.				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)					CACCACCTTGGGATTTTAATA	0.403000														50			35		0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36965995	36965995	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:36965995G>A	uc002hqu.3	-	5	803	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CWC25_uc010wdv.2_Missense_Mutation_p.S154F|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	217										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						AACAGGGGAGGAATTTGCCAT	0.408000														16			5		0	0	1	0	0
MSH5	4439	broad.mit.edu	37	6	31729911	31729911	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:31729911G>A	uc003nwu.2	+	23	2473	c.2345G>A	c.(2344-2346)gGa>gAa	p.G782E	MSH5_uc003nwx.2_Missense_Mutation_p.G769E|MSH5_uc003nwv.2_Missense_Mutation_p.G781E|MSH5_uc003nww.2_Missense_Mutation_p.G781E|MSH5_uc011dof.1_Missense_Mutation_p.G480E|MSH5_uc003nwy.1_Missense_Mutation_p.G425E|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	781					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						ATCCGCAGTGGAAAACCCATC	0.488000								Direct reversal of damage;Mismatch excision repair (MMR)						38			16		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238245168	238245168	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:238245168G>A	uc002vwl.2	-	39	8860	c.8575C>T	c.(8575-8577)Ccg>Tcg	p.P2859S	COL6A3_uc002vwo.2_Missense_Mutation_p.P2653S|COL6A3_uc010znj.1_Missense_Mutation_p.P2252S|COL6A3_uc002vwj.2_Missense_Mutation_p.P240S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2859	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGTTATTCGGAACATTTCTG	0.393000														50			37		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44128516	44128516	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:44128516G>A	uc002rtr.2	-	31	3570	c.3512C>T	c.(3511-3513)tCc>tTc	p.S1171F	LRPPRC_uc010yob.1_Missense_Mutation_p.S1071F	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1171	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGTCCAATGGAGTCTTCGAG	0.393000														37			22		0	0	1	0	0
NUDT1	4521	broad.mit.edu	37	7	2289596	2289596	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:2289596T>C	uc003slp.1	+	3	428	c.326T>C	c.(325-327)tTc>tCc	p.F109S	NUDT1_uc003slq.1_Missense_Mutation_p.F86S|NUDT1_uc003slr.1_Missense_Mutation_p.F86S|NUDT1_uc003sls.1_Missense_Mutation_p.F109S|NUDT1_uc003slt.1_Missense_Mutation_p.F86S|NUDT1_uc003slu.1_Missense_Mutation_p.F109S|NUDT1_uc003slv.1_Missense_Mutation_p.F86S	NM_198949	NP_945191	P36639	8ODP_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 1 (NUDT1), transcript variant 2B, mRNA.	127	Nudix hydrolase.				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding			large_intestine(3)|lung(8)|urinary_tract(1)	12		Ovarian(82;0.0253)|Melanoma(862;0.155)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)		GTGCATGTCTTCTGCACAGAC	0.642000								Modulation of nucleotide pools						81			54		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171218	207171218	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:207171218C>T	uc002vbp.2	+	4	2216	c.1966C>T	c.(1966-1968)Ctt>Ttt	p.L656F		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	656							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAATGCTGACCTTATGGATAT	0.433000														23			18		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87338524	87338524	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:87338524C>T	uc004aoa.1	+	8	1558	c.620C>T	c.(619-621)aCt>aTt	p.T207I	NTRK2_uc004anv.1_Missense_Mutation_p.T207I|NTRK2_uc004any.1_Missense_Mutation_p.T207I|NTRK2_uc004anz.1_Missense_Mutation_p.T207I|NTRK2_uc004aob.1_Missense_Mutation_p.T207I|NTRK2_uc011lsz.2_Missense_Mutation_p.T207I|NTRK2_uc011lta.2_Missense_Mutation_p.T207I|NTRK2_uc011ltb.1_Missense_Mutation_p.T51I	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	207	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CCTAACCTCACTGTGGAGGAA	0.408000										TSP Lung(25;0.17)				11			29		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307062	14307062	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:14307062A>G	uc021war.1	-	0	1091	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.I364T|FLRT3_uc002wow.2_Missense_Mutation_p.I364T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	364					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)		GGTTATCTGAATGGTGCTTAC	0.488000														60			34		0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75526907	75526907	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:75526907A>C	uc004ajd.3	-	9	1484	c.1167T>G	c.(1165-1167)aaT>aaG	p.N389K	ALDH1A1_uc011lsh.2_Missense_Mutation_p.N310K|ALDH1A1_uc011lsg.2_Missense_Mutation_p.N215K	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	389					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CATCTGTAACATTAGAGAACA	0.453000														13			30		0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66522027	66522027	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:66522027C>T	uc002jhg.3	+	6	862	c.682C>T	c.(682-684)Cga>Tga	p.R228*	PRKAR1A_uc002jhh.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhi.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhj.3_Nonsense_Mutation_p.R228*|PRKAR1A_uc002jhk.3_Nonsense_Mutation_p.R104*|PRKAR1A_uc002jhl.3_Nonsense_Mutation_p.R228*	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	228					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GGGCATCGACCGAGACAGCTA	0.418000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					5			14		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413992	22413992	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:22413992C>T	uc001yuf.3	+	0	531	c.291C>T	c.(289-291)ttC>ttT	p.F97F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGACAACTTCTTCTGTGATG	0.512000														189			33		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650798	93650798	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:93650798G>A	uc004aqz.3	+	13	1928	c.1723_splice	c.e13-1	p.G575_splice	SYK_uc004ara.3_Splice_Site_p.G552_splice|SYK_uc004arb.3_Splice_Site_p.G552_splice|SYK_uc004arc.3_Splice_Site_p.G575_splice|SYK_uc011ltt.2_Splice_Site|SYK_uc011ltr.2_Splice_Site|SYK_uc011lts.2_Splice_Site	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	575	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ATGTTGTAGGGGATGAAAGGA	0.428000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									9			4		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769570	13769570	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:13769570A>G	uc001rbt.2	-	4	1326	c.1147T>C	c.(1147-1149)Tcc>Ccc	p.S383P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	383					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	p.S383F(1)|p.K382N(1)		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)	ATCTGCAGGGACTTGTCTTTC	0.498000														31			15		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162077	142162077	+	Nonsense_Mutation	SNP	A	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:142162077A>T	uc011krx.2	-	1	213	c.198T>A	c.(196-198)taT>taA	p.Y66*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Nonsense_Mutation_p.Y66*					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		CAACTGAATAATAAATCAGCT	0.483000														91			67		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500851	47500851	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:47500851C>T	uc002leb.2	-	9	1479	c.1191G>A	c.(1189-1191)gtG>gtA	p.V397V	MYO5B_uc021ukb.1_Silent_p.V396V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	397	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCGCATTGATCACCTGCTGCA	0.587000														53			24		0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342620	94342620	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:94342620C>T	uc001dqf.3	-	1	929	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Missense_Mutation_p.E86K	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TGTTTTGTTTCTTTAAGAGAT	0.338000														5			13		0	0	1	0	0
ZNF275	10838	broad.mit.edu	37	X	152613170	152613170	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:152613170C>T	uc011myn.2	+	1	1740	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	ZNF275_uc004fhg.2_Intron|ZNF275_uc022cht.1_Missense_Mutation_p.H280Y|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	259						intracellular	nucleic acid binding|zinc ion binding	p.S280C(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGCATCCACAGTGGCGA	0.682000														6			12		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129290468	129290468	+	Silent	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:129290468A>G	uc004evg.3	-	1	447	c.216T>C	c.(214-216)atT>atC	p.I72I	AIFM1_uc011mus.2_Silent_p.I72I|AIFM1_uc004evh.3_Intron|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_Intron	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	72					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						ATAAGCCCACAATAAGGACTA	0.443000														13			60		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150718678	150718678	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:150718678G>A	uc003lty.3	-	4	598	c.468C>T	c.(466-468)atC>atT	p.I156I	SLC36A2_uc003ltz.3_Intron|SLC36A2_uc003lua.3_Intron|SLC36A2_uc010jhv.2_Silent_p.I156I|SLC36A2_uc011dct.1_Silent_p.I156I	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	156				I -> N (in Ref. 1; AAO11788).	cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGTTGGGTGATAATAAGGA	0.398000														16			36		0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	54001462	54001462	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:54001462C>T	uc002rxk.1	+	2	450	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	GPR75-ASB3_uc021vhl.1_Intron|GPR75-ASB3_uc002rxg.2_Intron|GPR75-ASB3_uc002rxh.2_Intron|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 2 (E. coli) (CHAC2), mRNA.	119										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCCTGATTATCTTGGTCCTGC	0.358000														41			22		0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377106	18377106	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:18377106G>A	uc010ebn.2	-	2	1460	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	KIAA1683_uc002nin.2_Missense_Mutation_p.P415L|KIAA1683_uc010xqe.1_Missense_Mutation_p.P369L	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	415	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTCTGCCGTGGGGTGCCAGT	0.602000														38			28		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137243556	137243556	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:137243556T>A	uc003lby.3	+	6	1157	c.1101T>A	c.(1099-1101)taT>taA	p.Y367*	PKD2L2_uc003lbw.1_Nonsense_Mutation_p.Y367*|PKD2L2_uc003lbx.3_Nonsense_Mutation_p.Y367*|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	367						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCACATTTATTACAATAATA	0.259000														2			10		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94883438	94883438	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:94883438G>A	uc002btj.3	+	4	856	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	MCTP2_uc010urg.1_Missense_Mutation_p.R264Q|MCTP2_uc002bti.2_Missense_Mutation_p.R264Q|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R264Q|MCTP2_uc002btg.4_Missense_Mutation_p.R264Q|MCTP2_uc002bth.4_Missense_Mutation_p.R264Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	264	C2 1.				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)			GTATATGATCGAGATTTAACC	0.318000														40			19		0	0	1	0	0
CD34	947	broad.mit.edu	37	1	208062533	208062533	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:208062533C>T	uc001hgw.1	-	5	1038	c.780G>A	c.(778-780)atG>atA	p.M260I	CD34_uc001hgv.1_Missense_Mutation_p.M102I|CD34_uc001hgx.1_Missense_Mutation_p.M260I|CD34_uc010psj.1_Missense_Mutation_p.M125I	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	260					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GGTGCTTTTTCATAAGTTGGA	0.483000														63			36		0	0	1	0	0
IRX4	50805	broad.mit.edu	37	5	1879629	1879629	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:1879629G>A	uc003jcz.2	-	3	844	c.725C>T	c.(724-726)tCc>tTc	p.S242F	IRX4_uc011cmf.1_Missense_Mutation_p.S103F	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	242					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		TGCGTTCTTGGAGCTCTTGAG	0.682000														8			23		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	229890561	229890561	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:229890561G>A	uc002vpr.4	-	2	578	c.540C>T	c.(538-540)ttC>ttT	p.F180F	PID1_uc002vps.4_Silent_p.F178F|PID1_uc002vpt.4_Silent_p.F147F|PID1_uc002vpu.4_Silent_p.F98F	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	180	PID.					cytoplasm		p.F178F(2)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		AGACCCAGGCGAAGATGTTGG	0.602000														39			34		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70853245	70853245	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:70853245G>A	uc003tvy.3	+	2	447	c.447G>A	c.(445-447)aaG>aaA	p.K149K	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	149						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGTACTCCAAGGACCTGCCCC	0.537000														20			16		0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1416798	1416798	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:1416798G>A	uc002fsr.3	-	2	599	c.210C>T	c.(208-210)gaC>gaT	p.D70D	INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_Intron|INPP5K_uc010vqm.2_Silent_p.D70D|INPP5K_uc010cjs.2_Intron	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	70	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TGCTCCACGAGTCATTAAAGG	0.507000														67			40		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95727797	95727797	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:95727797G>A	uc001vmd.4	-	21	2814	c.2695C>T	c.(2695-2697)Cca>Tca	p.P899S	ABCC4_uc010afk.3_Missense_Mutation_p.P852S	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	899	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GAAAACACTGGACTCCGAGCT	0.532000														30			25		0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52836730	52836730	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:52836730G>A	uc003dfv.2	+	12	1653	c.1617G>A	c.(1615-1617)atG>atA	p.M539I	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	539					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGAAGGAGATGGAGAAGGCCC	0.592000														18			22		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66489964	66489964	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:66489964T>G	uc003tvn.3	+	6	1088	c.939T>G	c.(937-939)gaT>gaG	p.D313E	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.	313					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D313N(1)		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)				CCATTGTTGATGTTGAAGATT	0.423000														26			23		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99272209	99272209	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:99272209C>T	uc003urq.3	-	3	268	c.166_splice	c.e3-1	p.G56_splice	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Splice_Site|CYP3A7_uc011kiy.2_Splice_Site_p.G46_splice|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Splice_Site_p.G56_splice	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	56					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TCCAGAGACCCTGGGAGAGGA	0.393000														31			11		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44061091	44061091	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:44061091C>T	uc002ijr.4	+	5	1243	c.921C>T	c.(919-921)atC>atT	p.I307I	MAPT_uc010dau.3_Silent_p.I307I|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.I155I	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	307					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				ACGTGGAAATCACACCCAACG	0.647000														26			17		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133946923	133946923	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:133946923C>T	uc004caa.1	+	17	3220	c.3122C>T	c.(3121-3123)tCc>tTc	p.S1041F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1041	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCCAAGGGTCCGACTGTGGC	0.607000														46			28		0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57206772	57206772	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:57206772C>T	uc021tiy.1	-	2	401	c.142G>A	c.(142-144)Gtt>Att	p.V48I	FAM192A_uc021tiz.1_Missense_Mutation_p.V48I|FAM192A_uc021tja.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	48						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GGGTCATAAACCTCCTCTGGA	0.428000														28			15		0	0	1	0	0
FABP2	2169	broad.mit.edu	37	4	120243228	120243228	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:120243228G>A	uc003icw.3	-	0	89	c.30C>T	c.(28-30)gaC>gaT	p.D10D		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	10							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTTCACTCCGGTCTACCTTCC	0.383000														28			33		0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2432922	2432922	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:2432922G>A	uc010qxl.2	-	16	2559	c.2550C>T	c.(2548-2550)atC>atT	p.I850I	TRPM5_uc001lwm.4_Silent_p.I850I|TRPM5_uc009ydn.3_Silent_p.I852I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	850						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAAAGATATGGATCAGCCGCA	0.642000														14			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9083238	9083238	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:9083238G>A	uc002mkp.3	-	0	8781	c.8577C>T	c.(8575-8577)ctC>ctT	p.L2859L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2859	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						CAGGTGTTAGGAGGCCTGACT	0.527000														4			7		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43748789	43748789	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:43748789G>A	uc001zrs.3	-	11	2150	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	TP53BP1_uc010udp.2_Missense_Mutation_p.P668S|TP53BP1_uc001zrq.4_Missense_Mutation_p.P673S|TP53BP1_uc001zrr.4_Missense_Mutation_p.P673S|TP53BP1_uc010udq.1_Missense_Mutation_p.P673S	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	668					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTCTCAGGGATTTCTTCC	0.458000								Other conserved DNA damage response genes						53			29		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9310436	9310436	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:9310436C>T	uc001qvl.3	-	27	3324	c.3295_splice	c.e27-1	p.G1099_splice	PZP_uc009zgl.3_Splice_Site_p.G885_splice	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCTACACCTCCCTGTGAATA	0.438000														6			5		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516083	140516083	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:140516083C>A	uc003liq.3	+	0	1284	c.1067C>A	c.(1066-1068)cCa>cAa	p.P356Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	356	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCCCTACCCCAGAAAATGCC	0.527000														24			25		7.07758e-08	7.22938e-08	1	1	0
RIMKLA	284716	broad.mit.edu	37	1	42880551	42880551	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:42880551C>T	uc001chi.2	+	4	1220	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	361					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ATCCGGGATTCCTCAGCAAGC	0.512000														22			28		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141819654	141819654	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:141819654C>T	uc002tvj.1	-	7	2174	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	401					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.Q400I(2)		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)		TCTATTTTTTCCTTGATAGTC	0.393000										TSP Lung(27;0.18)				46			35		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242287823	242287823	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:242287823C>T	uc001hzn.2	-	6	1107	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PLD5_uc021pll.1_Missense_Mutation_p.E202K|PLD5_uc001hzl.4_Missense_Mutation_p.E232K|PLD5_uc001hzm.4_Missense_Mutation_p.E86K|PLD5_uc001hzo.2_Missense_Mutation_p.E202K	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	294						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATTTCTTTTCATTGTCATAG	0.378000														20			17		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814028	137814028	+	Nonsense_Mutation	SNP	G	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:137814028G>T	uc002tva.1	+	1	85	c.85G>T	c.(85-87)Gga>Tga	p.G29*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	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)		TGGTCCCGGAGGAGTCCAGAG	0.493000														22			13		3.45872e-05	3.51406e-05	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181690896	181690896	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:181690896C>T	uc009wxt.3	+	15	2154	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	CACNA1E_uc001gow.3_Silent_p.I653I|CACNA1E_uc009wxs.3_Silent_p.I653I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	653					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTTTGTAGATCCTGACGGGTG	0.532000														35			30		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892309	9892309	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:9892309C>T	uc003gmc.3	-	8	1201	c.1140G>A	c.(1138-1140)cgG>cgA	p.R380R	SLC2A9_uc003gmd.3_Silent_p.R351R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	380					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGAGGGGTCTCCGTCCCAGGT	0.522000														4			9		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964176	109964176	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:109964176G>A	uc010ywt.1	+	1	620	c.620G>A	c.(619-621)gGg>gAg	p.G207E		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	207	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						AGCTACGAGGGGAAGGAACCT	0.597000														11			8		0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183622485	183622485	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:183622485G>A	uc002uow.1	+	18	2291	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.E580K|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	626	Thioredoxin 3.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	p.Q625Q(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTGCCCAGGAAAACGTTCA	0.333000														28			18		0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56620078	56620078	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:56620078C>T	uc002iwq.2	-	0	1656	c.1470G>A	c.(1468-1470)gaG>gaA	p.E490E	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	490										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AACTTGGAAACTCCTTTGGTG	0.468000														160			113		0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201186515	201186515	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:201186515C>T	uc001gwc.3	+	16	9826	c.9696C>T	c.(9694-9696)atC>atT	p.I3232I	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						GCGCCCACATCCTGGGCTACC	0.657000														40			27		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49147649	49147649	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:49147649G>A	uc003cwd.2	-	24	4016	c.3697C>T	c.(3697-3699)Cta>Tta	p.L1233L	USP19_uc003cwa.3_Silent_p.L1041L|USP19_uc003cwb.3_3'UTR|USP19_uc003cvz.4_Silent_p.L1336L|USP19_uc011bcg.2_Silent_p.L1324L|USP19_uc003cwc.2_Silent_p.L991L|USP19_uc011bch.2_Silent_p.L1334L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1233					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGGCCTAGGTCTGGGTGG	0.622000														10			37		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967678	161967678	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:161967678C>T	uc010pkq.2	-	5	1838	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	OLFML2B_uc001gbu.3_Missense_Mutation_p.G471R	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	471										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GGGGTTGTTCCCCACCCAGCA	0.567000														115			61		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16263525	16263525	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:16263525G>A	uc002den.4	-	21	3010	c.2973C>T	c.(2971-2973)ttC>ttT	p.F991F	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	991	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CGAGGAGCCCGAAGATCCCGC	0.667000														5			6		0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127228564	127228564	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:127228564C>T	uc003vmb.2	+	0	159	c.12C>T	c.(10-12)acC>acT	p.T4T	GCC1_uc003vma.3_5'Flank|ARF5_uc010llb.2_Silent_p.T4T|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	4					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TGGGCCTCACCGTGTCCGCGC	0.756000														8			6		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187584	123187584	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:123187584G>A	uc001ucx.1	-	0	321	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	83					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	TTGTCCATCAGGAAGGGCAGG	0.522000														33			16		0	0	1	0	0
CCL8	6355	broad.mit.edu	37	17	32647341	32647341	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:32647341C>T	uc002hib.3	+	1	585	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005623	NP_005614	P80075	CCL8_HUMAN	Homo sapiens chemokine (C-C motif) ligand 8 (CCL8), mRNA.	44					calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				TAGGAAAATTCCTATCCAGAG	0.443000														27			12		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15793319	15793319	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:15793319G>A	uc002nbl.3	+	6	766	c.647_splice	c.e6+1	p.E216_splice		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCATTGTCAGGAGTGAGTTCC	0.498000														31			26		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628623	34628623	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:34628623C>T	uc001zhw.3	-	0	423	c.259G>A	c.(259-261)Gat>Aat	p.D87N	SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.D87N|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.D28N|SLC12A6_uc001zib.3_Missense_Mutation_p.D78N|SLC12A6_uc001zic.3_Missense_Mutation_p.D87N|SLC12A6_uc010bau.3_Missense_Mutation_p.D87N|SLC12A6_uc001zid.3_Missense_Mutation_p.D28N	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	87					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E86Q(1)|p.E87K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCGATGACATCCTGGGGGTGA	0.498000														13			12		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206277	49206277	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:49206277G>A	uc002pke.4	+	1	175	c.64G>A	c.(64-66)Gtt>Att	p.V22I	FUT2_uc010emc.3_Missense_Mutation_p.V22I|FUT2_uc021uwx.1_Missense_Mutation_p.V22I	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	22					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TGTCTTTACGGTTTCCACTAT	0.517000														98			52		0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56965488	56965488	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:56965488G>A	uc001sln.2	+	4	590	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	RBMS2_uc010sqp.1_Intron|RBMS2_uc010sqq.1_Missense_Mutation_p.E6K|RBMS2_uc009zou.2_5'UTR	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	131					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						ACAGCAACAGGAACAGGACCC	0.483000														20			24		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56515402	56515402	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:56515402G>A	uc002qmj.3	+	1	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N	NLRP5_uc002qmi.3_Missense_Mutation_p.S128N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	128	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACGTCCATTAGCATCTTTGAA	0.507000														30			15		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167020590	167020590	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:167020590G>A	uc003irh.2	+	19	3465	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	TLL1_uc011cjn.2_Missense_Mutation_p.E963K|TLL1_uc011cjo.2_Missense_Mutation_p.E764K	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	940	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.E939Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAAGTGGAGGAAGAAGCAGA	0.468000														31			41		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	26998033	26998033	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:26998033T>A	uc002rhp.1	+	2	348	c.272T>A	c.(271-273)tTc>tAc	p.F91Y	C2orf18_uc002rhq.1_Intron|C2orf18_uc010eyo.1_Missense_Mutation_p.F38Y|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	91						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCTTCTTTTCCTGCCCCCA	0.592000														32			27		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839084	15839084	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:15839084C>T	uc002nbm.2	+	0	251	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGTGGCCATCATCCCGCGCA	0.622000														36			20		0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	742420	742420	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:742420C>T	uc002wed.4	-	3	1461	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G	SLC52A3_uc002wee.2_Silent_p.G374G	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	374					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGTTGTAGCCCCCAAAGCAGG	0.632000														22			10		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170599	72170599	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:72170599G>A	uc002fcc.4	-	7	1210	c.1038C>T	c.(1036-1038)atC>atT	p.I346I	PMFBP1_uc002fcd.3_Silent_p.I346I|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.I201I	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	346										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)				TACCCTTCATGATGTTTCTCT	0.562000														18			11		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187594	152187594	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:152187594C>G	uc001ezt.1	-	2	6587	c.6511G>C	c.(6511-6513)Ggc>Cgc	p.G2171R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2171					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGCCGTGGCCCGAAGACTGA	0.627000														696			34		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24817049	24817049	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr10:24817049G>A	uc001iru.4	+	14	3485	c.3082_splice	c.e14+1	p.E1028_splice	KIAA1217_uc001irs.3_Splice_Site_p.E948_splice|KIAA1217_uc001irt.4_Splice_Site_p.E993_splice|KIAA1217_uc010qcy.2_Splice_Site_p.D993_splice|KIAA1217_uc010qcz.2_Splice_Site_p.E993_splice|KIAA1217_uc010qda.1_Splice_Site|KIAA1217_uc001irw.3_Splice_Site_p.E711_splice|KIAA1217_uc001irz.3_Splice_Site_p.E711_splice|KIAA1217_uc001irx.3_Splice_Site_p.E711_splice|KIAA1217_uc001iry.3_Splice_Site_p.E711_splice	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1028					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAACTTTCAGGTAAGTTCCGG	0.512000														31			3		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174784	63174784	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:63174784C>T	uc001xfx.3	-	10	2460	c.2409G>A	c.(2407-2409)atG>atA	p.M803I	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	803					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCCATTCTTCATTCTTATTG	0.453000														47			26		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42490372	42490372	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:42490372C>T	uc002osh.3	-	4	521	c.367G>A	c.(367-369)Ggc>Agc	p.G123S	ATP1A3_uc010xwf.2_Missense_Mutation_p.G134S|ATP1A3_uc010xwg.2_Missense_Mutation_p.G93S|ATP1A3_uc002osg.3_Missense_Mutation_p.G123S|ATP1A3_uc010xwh.2_Missense_Mutation_p.G136S			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	123					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCACGATGCCCAGGTACAGC	0.597000														29			12		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110415963	110415963	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:110415963G>A	uc003hzk.3	+	5	1494	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	SEC24B_uc003hzl.3_Missense_Mutation_p.G445E|SEC24B_uc011cfp.2_Missense_Mutation_p.G511E|SEC24B_uc011cfq.2_Missense_Mutation_p.G480E|SEC24B_uc011cfr.2_Missense_Mutation_p.G445E	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	480					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTATTTCTGGAGTACAGCCC	0.418000														14			30		0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898580	6898580	+	Silent	SNP	G	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:6898580G>C	uc010rat.2	+	0	725	c.702G>C	c.(700-702)ggG>ggC	p.G234G		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGCTGAGGGGAAACATCAGG	0.517000														14			24		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847973	47847973	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:47847973C>T	uc003tny.2	-	51	7733	c.7699G>A	c.(7699-7701)Gga>Aga	p.G2567R	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2567					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						AGGCTCACTCCAACCACGGAG	0.517000														20			9		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155883916	155883916	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:155883916G>A	uc001fmi.1	-	13	1865	c.1841C>T	c.(1840-1842)cCc>cTc	p.P614L	RIT1_uc001fmh.1_5'Flank|RIT1_uc010pgr.1_5'Flank|KIAA0907_uc001fmj.1_3'UTR	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	614										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGTTTCCTAGGGAGCCATCCA	0.448000														25			13		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48250034	48250034	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:48250034G>A	uc002eff.1	-	5	1292	c.942C>T	c.(940-942)ttC>ttT	p.F314F	ABCC11_uc002efg.1_Silent_p.F314F|ABCC11_uc002efh.1_Silent_p.F314F|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Silent_p.F314F	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	314	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)				CCGCCAGTGGGAAAACCAGGA	0.473000														65			31		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:106814408G>A	uc003ymd.3	+	7	2121	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E431K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	700					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGCCGGCACGAAACATACAT	0.488000														15			9		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369655	56369655	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:56369655C>T	uc002qmd.4	+	2	1318	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NLRP4_uc002qmf.3_Missense_Mutation_p.P224L|NLRP4_uc010etf.3_Missense_Mutation_p.P130L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	299	NACHT.						ATP binding			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)		ATCTACCAGCCCCGGGGATTC	0.507000														32			19		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62324500	62324500	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:62324500C>T	uc021wge.1	+	28	3026	c.2856C>T	c.(2854-2856)ttC>ttT	p.F952F	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Silent_p.F952F|RTEL1_uc011abd.2_Silent_p.F976F|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Silent_p.F729F|RTEL1_uc002yfx.1_Silent_p.F197F|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	952					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTACAGGCTTCTACCAGTTTG	0.602000														58			44		0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599596	22599596	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr22:22599596G>A	uc002zvx.1	+	1	311	c.285G>A	c.(283-285)agG>agA	p.R95R	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	95	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding	p.A94P(2)		large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		ATGTGGCCAGGAACAGGGGGT	0.582000														25			20		0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140419753	140419753	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:140419753G>A	uc003eto.2	+	4	2315	c.2109G>A	c.(2107-2109)ggG>ggA	p.G703G		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	703						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATGGACATGGGAAGAACCGAG	0.532000														21			15		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984673	72984673	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:72984673G>A	uc002fck.3	-	2	3584	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	ZFHX3_uc002fcl.3_Silent_p.L57L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	971					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCTCCGACAGGCTGCGCTCC	0.602000														18			8		0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7998826	7998826	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:7998826C>T	uc002miz.3	-	5	778	c.606G>A	c.(604-606)cgG>cgA	p.R202R	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	202					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.R202Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GCTGGGGCCTCCGGTAGGGCC	0.622000														30			20		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169648	36169648	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:36169648C>T	uc003zzb.4	+	0	260	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	50	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCTGCTGTCTCCCCACTGGTG	0.532000														10			19		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169838	27169838	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:27169838G>A	uc002rhu.4	+	12	1828	c.1670G>A	c.(1669-1671)gGa>gAa	p.G557E	DPYSL5_uc002rhv.4_Missense_Mutation_p.G557E|DPYSL5_uc021vev.1_Missense_Mutation_p.G557E	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	557					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)					GCTCCTCCCGGAGGCAGGTCG	0.627000														10			11		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413719	26413719	+	Silent	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:26413719C>A	uc003nhv.3	+	9	1709	c.1341C>A	c.(1339-1341)ccC>ccA	p.P447P	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Silent_p.P395P	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	447	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAACTGAGCCCAGAACCAACC	0.478000														68			27		7.92952e-12	8.18739e-12	1	1	0
CFTR	1080	broad.mit.edu	37	7	117175335	117175335	+	Missense_Mutation	SNP	C	T	T	rs121908803		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:117175335C>T	uc003vjd.3	+	5	745	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	205	ABC transmembrane type-1 1.		P -> S (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.P205S(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTGGATCGCTCCTTTGCAAGT	0.473000									Cystic Fibrosis					72			48		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41054925	41054925	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:41054925G>A	uc003jmj.4	-	10	1541	c.1051C>T	c.(1051-1053)Cac>Tac	p.H351Y	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	351							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAAATGATGTGATCCCTCAAC	0.373000														6			13		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59514003	59514003	+	Splice_Site	SNP	C	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:59514003C>G	uc011lee.2	-	15	1370	c.1309_splice	c.e15+1	p.A437_splice	NSMAF_uc003xtt.3_Splice_Site_p.A406_splice	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	406	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAGAATCTTACCAATCCTAAC	0.388000														19			13		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153994657	153994658	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:153994657_153994658GG>AA	uc003ezy.4	-	23	2800_2801	c.2719_2720CC>TT	c.(2719-2721)cca>TTa	p.P907L	DHX36_uc010hvq.3_Missense_Mutation_p.P893L|DHX36_uc003ezz.4_Missense_Mutation_p.P878L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	907						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GAGACAGTATGGGGAAACCTCT	0.347000														21			7		0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197866501	197866501	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:197866501G>A	uc021vuj.1	-	21	2604	c.2411C>T	c.(2410-2412)cCc>cTc	p.P804L	ANKRD44_uc002utz.4_Missense_Mutation_p.P511L|ANKRD44_uc021vuk.1_Missense_Mutation_p.P779L	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	804							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGAGTAAAGGGATTACCGAT	0.338000														32			16		0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251968	49251968	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:49251968G>A	uc001rsn.3	-	4	613	c.510C>T	c.(508-510)ttC>ttT	p.F170F		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	170					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TTTCTGAGGTGAAAGCTGAGC	0.552000														38			19		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255619	22255619	+	Silent	SNP	G	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:22255619G>C	uc010ecx.3	+	1	181	c.12G>C	c.(10-12)ctG>ctC	p.L4L	ZNF257_uc010ecy.3_5'UTR	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGACCACTGACAATTAGGG	0.408000														51			32		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103718289	103718289	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:103718289C>T	uc001vpy.4	-	0	908	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	104					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGCAGCATCCTATAATGAG	0.517000														38			33		0	0	1	0	0
SPRR4	163778	broad.mit.edu	37	1	152944394	152944394	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:152944394C>G	uc001fav.1	+	1	91	c.28C>G	c.(28-30)Cag>Gag	p.Q10E	SPRR4_uc021ozm.1_Missense_Mutation_p.Q10E	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	10	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcggcagcagcagcagTG	0.552000														47			27		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103978	53103978	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:53103978G>A	uc003tpz.3	+	0	630	c.614G>A	c.(613-615)gGt>gAt	p.G205D		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	205										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GACAGCAAGGGTGGCAGGCGG	0.667000														45			30		0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41250182	41250182	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:41250182G>A	uc003oqf.2	-	1	421	c.357C>T	c.(355-357)ccC>ccT	p.P119P	TREM1_uc003oqg.2_Silent_p.P119P|TREM1_uc021yzj.1_Silent_p.P119P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	119	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity	p.P118H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	GAGGCTCCTTGGGAGGCTGGT	0.542000														28			12		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533563	55533563	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:55533563C>T	uc003xsd.1	+	1	185	c.37C>T	c.(37-39)Cat>Tat	p.H13Y	RP1_uc011ldy.1_Missense_Mutation_p.H13Y	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	13					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)			TTCCATCATTCATCCTACGTC	0.463000														51			37		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99640534	99640534	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:99640534G>A	uc001tge.2	-	12	2282	c.1865C>T	c.(1864-1866)cCa>cTa	p.P622L	ANKS1B_uc001tgf.2_Missense_Mutation_p.P202L|ANKS1B_uc001tgk.3_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.P588L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	622						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGATGAAATGGATTTTCAGG	0.448000														69			42		0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169102023	169102023	+	Nonstop_Mutation	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:169102023C>A	uc001gfu.3	-	11	1369	c.1131G>T	c.(1129-1131)taG>taT	p.*377Y	NME7_uc001gft.3_Nonstop_Mutation_p.*341Y|NME7_uc010plq.2_Non-coding_Transcript	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	0					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					TTCCACACCACTAATTATCCA	0.363000														25			12		1.52009e-12	1.57379e-12	1	1	0
SEPT3	55964	broad.mit.edu	37	22	42388763	42388763	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr22:42388763C>T	uc003bbr.4	+	7	999	c.861C>T	c.(859-861)atC>atT	p.I287I	SEPT3_uc003bbs.4_Silent_p.I287I|SEPT3_uc011apj.2_Silent_p.I223I|SEPT3_uc010gys.3_Silent_p.I67I	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	287					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GGGGGATCATCGAAGGTAATT	0.483000														2			5		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50400980	50400980	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:50400980G>A	uc002xwh.4	-	3	3087	c.2986C>T	c.(2986-2988)Cct>Tct	p.P996S	SALL4_uc010gii.3_Missense_Mutation_p.P559S|SALL4_uc002xwi.4_Missense_Mutation_p.P219S	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	996					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGAGGGTAGGAACCCCCCCA	0.557000														30			17		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100153353	100153353	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:100153353C>T	uc003uvf.3	+	5	1008	c.872C>T	c.(871-873)cCt>cTt	p.P291L	AGFG2_uc003uvg.1_3'UTR	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	291					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						CAGCCAACTCCTGCAGGTAAA	0.507000														44			30		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436188	5436188	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:5436188C>T	uc002gci.3	-	10	3805	c.3250G>A	c.(3250-3252)Ggg>Agg	p.G1084R	NLRP1_uc002gcg.1_Missense_Mutation_p.G1088R|NLRP1_uc002gch.4_Missense_Mutation_p.G1084R|NLRP1_uc002gck.3_Missense_Mutation_p.G1084R|NLRP1_uc002gcj.3_Missense_Mutation_p.G1054R|NLRP1_uc002gcl.3_Missense_Mutation_p.G1054R|NLRP1_uc010clh.3_Missense_Mutation_p.G1084R	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1084					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCACAGGCCCCGTGGGGCCC	0.607000														18			10		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185976290	185976290	+	Silent	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:185976290A>G	uc001grq.1	+	29	4735	c.4506A>G	c.(4504-4506)gaA>gaG	p.E1502E		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1502	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTAATGTTGAACTTCTAGACA	0.368000														49			21		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061031	6061031	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:6061031G>A	uc001qnn.1	-	49	8384	c.8134C>T	c.(8134-8136)Cca>Tca	p.P2712S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2712					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGTGCCTGGAATTTTCATA	0.443000														44			14		0	0	1	0	0
MS4A15	219995	broad.mit.edu	37	11	60531279	60531280	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:60531279_60531280CC>TT	uc009ynf.1	+	1	293_294	c.73_74CC>TT	c.(73-75)cct>TTt	p.P25F	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Missense_Mutation_p.P25F	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	25						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCTCTGCCCACCTCCGGCCATT	0.599000														63			50		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17111250	17111250	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:17111250C>T	uc002nfb.3	-	9	1014	c.982G>A	c.(982-984)Gga>Aga	p.G328R		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	281						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGGGCGTCCCACCTCGTGG	0.498000														15			11		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699242	43699242	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:43699242G>A	uc002ovy.3	-	3	995	c.893C>T	c.(892-894)cCc>cTc	p.P298L	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.P205L	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	298	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CGTGACATTGGGTAGAATGAG	0.483000														19			75		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35533870	35533870	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:35533870G>A	uc002xgh.2	-	11	1507	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	436					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTTCAATTTGGGATCAGTAGA	0.299000														31			13		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872299	213872299	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:213872299C>T	uc002vem.3	-	7	1535	c.1366G>A	c.(1366-1368)Gac>Aac	p.D456N	IKZF2_uc010fuu.3_Missense_Mutation_p.D311N|IKZF2_uc002vej.3_Missense_Mutation_p.D403N|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Missense_Mutation_p.D382N|IKZF2_uc002vel.3_Missense_Mutation_p.D377N|IKZF2_uc010fuw.3_Missense_Mutation_p.D230N|IKZF2_uc010fux.3_Missense_Mutation_p.D230N|IKZF2_uc010fuy.3_Missense_Mutation_p.D384N|IKZF2_uc002ven.3_Missense_Mutation_p.D430N|IKZF2_uc002vei.3_Missense_Mutation_p.D234N	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D456N(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTGTAGATGTCCTTCAGAGAG	0.473000														85			36		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27509122	27509122	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:27509122G>A	uc002dov.2	-	13	2226	c.2186C>T	c.(2185-2187)cCa>cTa	p.P729L	GTF3C1_uc002dou.3_Missense_Mutation_p.P729L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	729						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTGGGGCACTGGAGGCTGGGA	0.478000														22			18		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2613102	2613102	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:2613102G>A	uc003sml.1	+	5	629	c.445G>A	c.(445-447)Gag>Aag	p.E149K	IQCE_uc010ksm.1_Missense_Mutation_p.E149K|IQCE_uc011jvy.1_Missense_Mutation_p.E133K|IQCE_uc011jvz.1_Missense_Mutation_p.E84K|IQCE_uc003smo.4_Missense_Mutation_p.E149K|IQCE_uc003smk.4_Missense_Mutation_p.E133K|IQCE_uc003smn.4_Missense_Mutation_p.E84K	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	149										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TATGTATGACGAGATTATTGA	0.358000														20			12		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597000														50			4		0	0	1	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43585483	43585483	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:43585483C>T	uc002lbp.4	-	5	465	c.369G>A	c.(367-369)atG>atA	p.M123I	PSTPIP2_uc002lbq.4_Missense_Mutation_p.M123I	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	123						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						GGATAGCATCCATTATGAGCT	0.294000														9			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098343	21098343	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:21098343C>T	uc010vbe.2	-	18	2704	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	902	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCCCTATCTCCTCCGCAATT	0.463000														71			41		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389909	128389909	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:128389909T>C	uc002top.3	+	37	5313	c.5260T>C	c.(5260-5262)Ttt>Ctt	p.F1754L	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1754	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCCAGAAGTTTATAGACAC	0.667000														60			44		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106204124	106204124	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:106204124C>T	uc001yse.3	-	6	1219	c.773G>A	c.(772-774)aGg>aAg	p.R258K	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		GATCATGTTCCTGTAGTCGGG	0.647000														30			28		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119341252	119341252	+	Missense_Mutation	SNP	G	A	A	rs141308759		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:119341252G>A	uc003pyj.3	-	3	1571	c.1223C>T	c.(1222-1224)tCg>tTg	p.S408L	FAM184A_uc003pyk.4_Missense_Mutation_p.S288L|FAM184A_uc003pyl.4_Missense_Mutation_p.S288L	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	408								p.S408L(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTGACTCTCGATTTTTCTGA	0.373000														20			22		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828862	6828862	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:6828862G>A	uc002mfu.1	+	12	1313	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	VAV1_uc010xjh.1_Missense_Mutation_p.D374N|VAV1_uc010dva.1_Missense_Mutation_p.D406N|VAV1_uc002mfv.1_Missense_Mutation_p.D351N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	406	PH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCCAAGATCGACGGGGAACT	0.597000														21			13		0	0	1	0	0
HAUS4	54930	broad.mit.edu	37	14	23416839	23416839	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:23416839G>A	uc001whw.3	-	7	1059	c.810C>T	c.(808-810)gtC>gtT	p.V270V	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Silent_p.V270V|HAUS4_uc001whu.3_Silent_p.V225V|HAUS4_uc001whv.3_Silent_p.V146V|HAUS4_uc001whq.3_Silent_p.V144V	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	270					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CACCGCACTTGACTTCCAGGT	0.517000														25			28		0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27840950	27840950	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:27840950C>T	uc002yme.3	-	3	660	c.338G>A	c.(337-339)gGa>gAa	p.G113E	CYYR1_uc002ymd.3_Splice_Site_p.G112_splice|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	112						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GGGTGGTGGTCCTGCTGAAAA	0.522000														22			19		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411609	51411609	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:51411609G>A	uc001nhi.2	-	0	840	c.787C>T	c.(787-789)Cct>Tct	p.P263S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTATCAGTAGGAAAGTTTGAA	0.383000														24			6		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4907322	4907322	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:4907322C>T	uc002gan.2	+	10	1251	c.894C>T	c.(892-894)atC>atT	p.I298I		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	298					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGATTTTATCCCCTACAGGG	0.522000														63			33		0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73237572	73237572	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:73237572G>A	uc002jni.2	-	9	894	c.855C>T	c.(853-855)aaC>aaT	p.N285N	GGA3_uc002jnk.2_Silent_p.N213N|GGA3_uc002jnj.2_Silent_p.N252N|GGA3_uc010wry.2_Silent_p.N213N|GGA3_uc010wrw.2_Silent_p.N163N|GGA3_uc010wrx.2_Silent_p.N163N	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	285	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCCGGGAGAGGTTGTCACTGG	0.517000														24			55		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429496	135429496	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:135429496G>A	uc004ezu.1	+	5	3922	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N	GPR112_uc010nsb.1_Missense_Mutation_p.D1006N|GPR112_uc010nsc.1_Missense_Mutation_p.D978N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1211					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTGTTGTTGATGAGACCAC	0.473000														16			67		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184049296	184049296	+	Missense_Mutation	SNP	C	T	T	rs147696097		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:184049296C>T	uc003fnp.3	+	29	4568	c.4297C>T	c.(4297-4299)Cct>Tct	p.P1433S	EIF4G1_uc010hxx.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnt.3_Missense_Mutation_p.P1144S|EIF4G1_uc010hxy.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnq.3_Missense_Mutation_p.P1346S|EIF4G1_uc003fnr.3_Missense_Mutation_p.P1269S|EIF4G1_uc003fns.3_Missense_Mutation_p.P1393S|EIF4G1_uc003fnv.4_Missense_Mutation_p.P1434S|EIF4G1_uc003fnw.3_Missense_Mutation_p.P1440S|EIF4G1_uc003fnx.3_Missense_Mutation_p.P1238S	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1433	W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTCGGAAGCCCCTGGCCAGAG	0.572000														97			61		0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58467155	58467155	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:58467155G>A	uc002aez.2	+	3	772	c.415G>A	c.(415-417)Gtg>Atg	p.V139M	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.V74M	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	139					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.V139M(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		ACTGCTGATCGTGGGAGAAAA	0.453000														25			20		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481212	179481212	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:179481212C>T	uc021vsy.1	-	205	40827	c.40602G>A	c.(40600-40602)tgG>tgA	p.W13534*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W7229*|TTN_uc021vta.1_Nonsense_Mutation_p.W7162*|TTN_uc021vtb.1_Nonsense_Mutation_p.W7037*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14461	Ig-like 91.						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)			TCACTTTAGTCCATGTTTTCC	0.438000														52			29		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222846	27222846	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:27222846C>T	uc003nja.3	+	10	1427	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.S214F|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	471					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGCACTGGCTCCCACTGCTTG	0.532000														123			48		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196748942	196748942	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:196748942C>T	uc001gtl.3	+	2	356	c.269C>T	c.(268-270)cCt>cTt	p.P90L	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.P90L|CFHR1_uc010poy.2_Missense_Mutation_p.P90L|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	90	Sushi 2.				complement activation	extracellular space		p.F89L(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGTTATTTTCCTTATTTGGAA	0.303000														10			4		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189313	53189313	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:53189313C>T	uc001say.3	-	0	580	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	172	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	p.E172K(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ATAGTCACTTCCTGAATTCCC	0.597000														26			19		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216108048	216108048	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:216108048G>A	uc001hku.1	-	37	7597	c.7210C>T	c.(7210-7212)Cct>Tct	p.P2404S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2404	Fibronectin type-III 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGGTAAAAGGAACCAGCCCA	0.398000										HNSCC(13;0.011)				56			43		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446859	85446859	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:85446859G>A	uc003pkl.1	-	7	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	456					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CGCCCACATAGGAGGGAGTCC	0.582000														45			31		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092129	147092129	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:147092129A>C	uc001epq.3	+	7	2908	c.2168A>C	c.(2167-2169)aAt>aCt	p.N723T	BCL9_uc010ozr.1_Missense_Mutation_p.N649T	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	723	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GTCAATCTAAATGTCAACATG	0.527000			T	"""IGH@, IGL@"""	B-ALL									21			10		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389950	48389950	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr10:48389950C>T	uc001jez.3	-	0	1042	c.928G>A	c.(928-930)Gag>Aag	p.E310K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	310	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			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)	AGGGCCTGCTCGGCCGGAGTC	0.677000														1			6		0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54956600	54956600	+	Silent	SNP	A	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:54956600A>C	uc002xxe.1	-	6	851	c.594T>G	c.(592-594)ggT>ggG	p.G198G	AURKA_uc002xxf.1_Silent_p.G198G|AURKA_uc002xxg.1_Silent_p.G198G|AURKA_uc002xxh.1_Silent_p.G198G|AURKA_uc002xxi.1_Silent_p.G198G|AURKA_uc002xxj.1_Silent_p.G198G|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Silent_p.G198G	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	198	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CATGGAAATAACCATACAGTC	0.363000														22			19		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33876366	33876366	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:33876366C>T	uc021wck.1	-	2	822	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	FAM83C_uc002xcb.1_Missense_Mutation_p.C59Y	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	235										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)			TGTGTCCCCACACGTGCTCCG	0.602000														23			8		0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74043654	74043654	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:74043654C>T	uc002sjr.1	+	2	2425	c.2304C>T	c.(2302-2304)tcC>tcT	p.S768S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	768										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAATCCATCCCGACCAGCTC	0.557000														29			13		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379575	379575	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:379575G>T	uc001lpb.3	+	14	2371	c.2362G>T	c.(2362-2364)Gat>Tat	p.D788Y		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	788						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCGTAGGGGATGCAGACGG	0.746000														1			6		8.12818e-05	8.19269e-05	1	1	0
SLC9C1	285335	broad.mit.edu	37	3	111899464	111899464	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:111899464C>T	uc003dyu.3	-	21	2917	c.2695G>A	c.(2695-2697)Gaa>Aaa	p.E899K	SLC9C1_uc011bhu.2_Missense_Mutation_p.E162K|SLC9C1_uc010hqc.3_Missense_Mutation_p.E851K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	899					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCACCTTCTTCAAATATATCA	0.323000														21			17		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347696	89347696	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:89347696G>A	uc002fmx.1	-	8	5715	c.5254C>T	c.(5254-5256)Ccc>Tcc	p.P1752S	ANKRD11_uc002fmy.1_Missense_Mutation_p.P1752S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1752S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1709S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1752						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGCTGGTGGGAGCGGTGGGC	0.667000														46			22		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108035942	108035942	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:108035942C>T	uc001tmk.1	+	13	3437	c.2916C>T	c.(2914-2916)atC>atT	p.I972I	BTBD11_uc001tmj.3_Silent_p.I972I|BTBD11_uc001tml.1_Silent_p.I509I|BTBD11_uc001tmm.1_Silent_p.I51I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	972	BTB.					integral to membrane	DNA binding	p.I972S(1)		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						AATACTCCATCTTTCAGGTGA	0.517000														29			25		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573596	142573596	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:142573596G>A	uc003wbx.2	-	6	1053	c.824C>T	c.(823-825)tCg>tTg	p.S275L	TRPV6_uc003wbw.1_Missense_Mutation_p.S61L|TRPV6_uc010lou.1_Missense_Mutation_p.S146L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	275					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.S275L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATAGAGAGTCGAGGTCAGTGG	0.517000														70			39		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335829	57335829	+	Silent	SNP	G	A	A	rs148324200		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:57335829G>A	uc002qnu.2	-	0	546	c.195C>T	c.(193-195)atC>atT	p.I65I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I65I|PEG3_uc002qnv.2_Silent_p.I65I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I65I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	65	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		TTCGGAGTTTGATCAGGGTCT	0.502000														42			28		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741069	53741069	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:53741069G>A	uc002qbg.1	-	4	1062	c.911C>T	c.(910-912)tCg>tTg	p.S304L	ZNF677_uc002qbf.1_Missense_Mutation_p.S304L	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S304S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGTGAGGTTCGAACACTGGTT	0.403000														32			19		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826212	46826212	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:46826212G>A	uc003oyo.3	-	16	3717	c.3428C>T	c.(3427-3429)tCg>tTg	p.S1143L	GPR116_uc011dwj.1_Missense_Mutation_p.S698L|GPR116_uc011dwk.1_Missense_Mutation_p.S572L|GPR116_uc003oyp.3_Missense_Mutation_p.S1001L|GPR116_uc003oyq.3_Missense_Mutation_p.S1143L|GPR116_uc010jzi.1_Missense_Mutation_p.S815L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1143S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CGTGATGACCGAGATGGCAAG	0.552000														17			8		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9768363	9768363	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:9768363C>T	uc021wst.1	+	18	1530	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	CPNE9_uc003bsd.3_Silent_p.P452P	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	453	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCTCATTGCCCATGTCTATCA	0.527000														50			22		0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631888	156631888	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:156631888C>T	uc003iov.3	+	6	1107	c.571C>T	c.(571-573)Cta>Tta	p.L191L	GUCY1A3_uc003iou.2_Silent_p.L191L|GUCY1A3_uc010iqc.2_Silent_p.L191L|GUCY1A3_uc010iqd.3_Silent_p.L190L|GUCY1A3_uc003iow.3_Silent_p.L191L|GUCY1A3_uc003iox.3_Silent_p.L191L|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.L191L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.L191L	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	191					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)		CGCCTCCATTCTATGCCTGGA	0.463000														4			12		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111956585	111956585	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:111956585G>A	uc004bdz.1	-	20	2433	c.2138C>T	c.(2137-2139)tCc>tTc	p.S713F		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	713						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCGGCACGGAGACTTGTGT	0.612000														65			29		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42804856	42804856	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:42804856G>A	uc011cps.2	-	4	624	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	SEPP1_uc011cpt.2_Missense_Mutation_p.H146Y|SEPP1_uc011cpu.2_Missense_Mutation_p.H146Y|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	146					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						AAACCAAGATGATATACAAGA	0.368000														4			22		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780713	37780713	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:37780713C>T	uc003tfm.1	+	0	718	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	240						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTTCCTTCCCTACCAGTT	0.418000														56			24		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70981045	70981045	+	Missense_Mutation	SNP	G	A	A	rs3960114		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:70981045G>A	uc001swb.4	-	6	1429	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PTPRB_uc010sto.2_Missense_Mutation_p.P467S|PTPRB_uc010stp.2_Missense_Mutation_p.P377S|PTPRB_uc001swc.4_Missense_Mutation_p.P685S|PTPRB_uc001swa.4_Missense_Mutation_p.P685S|PTPRB_uc001swd.4_Missense_Mutation_p.P684S|PTPRB_uc009zrr.2_Missense_Mutation_p.P564S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	467	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P467S(3)|p.P685S(1)		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)			ACAGCCAGGGGGACTGAGGAA	0.458000														9			11		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120832525	120832525	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr10:120832525G>A	uc001ldu.3	-	3	564	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	EIF3A_uc010qsu.2_Missense_Mutation_p.R106C	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	140					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTGTCAGTACGATCCTGAGTG	0.388000														10			13		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153655045	153655045	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:153655045C>T	uc001fcs.4	+	4	1664	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	NPR1_uc010pdz.2_Missense_Mutation_p.P161S|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	415					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GGATATGGATCCCGAGAATGG	0.522000														13			7		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61747770	61747770	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:61747770C>T	uc002eog.2	-	9	2584	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	543	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P543P(2)|p.P543L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGTGAAATTCGGATTGTTGA	0.333000														13			8		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852256	31852256	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:31852256G>A	uc003nxz.1	-	20	2694	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	EHMT2_uc003nxx.1_Missense_Mutation_p.S93F|EHMT2_uc003nxy.1_Missense_Mutation_p.S693F|EHMT2_uc011don.1_Missense_Mutation_p.S918F|EHMT2_uc003nya.1_Missense_Mutation_p.S861F	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	895					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCACACGTCGGAGCGCTCGGG	0.612000														145			47		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12661487	12661487	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:12661487C>T	uc002gno.2	+	11	2587	c.2288C>T	c.(2287-2289)tCa>tTa	p.S763L	MYOCD_uc002gnn.2_Missense_Mutation_p.S715L|MYOCD_uc002gnp.1_Missense_Mutation_p.S667L|MYOCD_uc002gnq.2_Intron	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	715					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)		TCAGCAATTTCAGAGGTAACA	0.408000														20			14		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21901480	21901480	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:21901480G>A	uc003svc.3	+	69	11264	c.11233G>A	c.(11233-11235)Gtg>Atg	p.V3745M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3745					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCTTTTAACGTGCTGTTCCA	0.483000									Kartagener syndrome					17			17		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10382201	10382201	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:10382201G>A	uc003bvt.3	-	19	3544	c.3105C>T	c.(3103-3105)atC>atT	p.I1035I	ATP2B2_uc003bvv.3_Silent_p.I990I|ATP2B2_uc003bvw.3_Silent_p.I990I|ATP2B2_uc010hdo.3_Silent_p.I740I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1035					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.Q1034Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCAGCACGATGGTGCAGA	0.627000														46			35		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36155855	36155855	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:36155855T>G	uc001wtj.3	-	17	2843	c.2452A>C	c.(2452-2454)Agc>Cgc	p.S818R	RALGAPA1_uc001wti.3_Missense_Mutation_p.S818R|RALGAPA1_uc010tpv.2_Intron|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S865R|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S716R	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	818					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTTTTGGCTCATGTCCTCT	0.348000														2			8		0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140698781	140698781	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:140698781C>T	uc003ljg.3	-	0	1571	c.831G>A	c.(829-831)ctG>ctA	p.L277L		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	277					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	p.L277L(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCCATAACCAGCTGATTGG	0.443000														15			37		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	T	T	rs144975292		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:104033936C>T	uc001tjw.3	+	8	1128	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	314					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F314F(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGAATTTCGTACCTGGAG	0.448000														40			31		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978950	247978950	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:247978950G>A	uc001idm.1	-	0	82	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I27T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AACAAGAAGAGAATCGAATGC	0.388000														15			9		0	0	1	0	0
TRAF6	7189	broad.mit.edu	37	11	36518747	36518747	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:36518747G>A	uc001mwq.2	-	4	898	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	TRAF6_uc001mws.2_Missense_Mutation_p.H173Y	NM_145803	NP_665802	Q9Y4K3	TRAF6_HUMAN	Homo sapiens TNF receptor-associated factor 6 (TRAF6), transcript variant 1, mRNA.	173	Interaction with TAX1BP1.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of osteoclast differentiation|protein K63-linked ubiquitination|protein autoubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein N-terminus binding|protein kinase B binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ATATTAATATGGAATTTTTGG	0.368000														11			15		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987709	45987709	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:45987709G>A	uc002zfe.1	-	1	329	c.263C>T	c.(262-264)tCc>tTc	p.S88F	TSPEAR_uc010gpv.1_Missense_Mutation_p.S20F	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	88	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TACGACGATGGAAAATTCTTC	0.522000														21			13		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117622181	117622181	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:117622181C>T	uc003pxp.1	-	41	6888	c.6689G>A	c.(6688-6690)aGa>aAa	p.R2230K	ROS1_uc011ebi.1_Non-coding_Transcript|RN7SK_uc021zee.1_5'Flank	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2230					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCTTCATCTCTGGACTTATA	0.363000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									13			18		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635408	42635408	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:42635408C>T	uc010ggo.3	+	2	427	c.387C>T	c.(385-387)caC>caT	p.H129H	TOX2_uc002xle.4_Silent_p.H87H|TOX2_uc010ggp.3_Silent_p.H87H|TOX2_uc002xlf.4_Silent_p.H138H|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGGACAGCCACCTGCTGTCGG	0.617000														15			7		0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122292672	122292672	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:122292672G>A	uc001ubj.3	-	6	391	c.351C>T	c.(349-351)atC>atT	p.I117I	HPD_uc001ubk.3_Silent_p.I78I	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	117					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GCTCCCGCATGATTTTGGCGC	0.597000														60			28		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240374523	240374523	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:240374523G>A	uc010pye.2	+	6	4290	c.4065G>A	c.(4063-4065)acG>acA	p.T1355T	FMN2_uc010pyd.2_Silent_p.T1351T	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1351	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCTCAAAGACGAAGGCTAAAC	0.338000														48			29		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328577	152328577	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:152328577C>T	uc001ezw.4	-	2	1758	c.1685G>A	c.(1684-1686)aGa>aAa	p.R562K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	562	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)			AGATGTCTCTCTAGACCCATA	0.498000														133			78		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265165	52265165	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:52265165C>T	uc002lfq.1	+	2	468	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	141						integral to membrane		p.G140E(1)		endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AACAAAGGATCGGCCAATTCC	0.448000														32			15		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195378	78195378	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:78195378G>A	uc002jyb.2	+	2	325	c.19G>A	c.(19-21)Gcg>Acg	p.A7T	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Missense_Mutation_p.A7T|SLC26A11_uc002jyd.2_Missense_Mutation_p.A7T|SLC26A11_uc010dhv.2_Missense_Mutation_p.A7T	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	7						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTCGGTGACGGCGCTGGGTCA	0.682000														8			13		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22271743	22271743	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:22271743G>A	uc010ecx.3	+	3	1360	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	ZNF257_uc010ecy.3_Silent_p.E365E	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATACTAGAGAGAAGGCCTACA	0.373000														4			5		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110839568	110839568	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:110839568G>A	uc001vqw.4	-	24	1767	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	549	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)			GGCTGTCCTGGAAAGCCTGGG	0.592000														41			34		0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113676334	113676334	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:113676334C>T	uc002tij.3	+	4	647	c.605C>T	c.(604-606)tCa>tTa	p.S202L	IL37_uc002tim.3_Missense_Mutation_p.S141L|IL37_uc002tik.3_Missense_Mutation_p.S181L|IL37_uc002til.3_Missense_Mutation_p.S162L|IL37_uc002tin.3_Missense_Mutation_p.S176L	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA.	202					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						ATTGAATTTTCATTTCAACCA	0.458000														25			16		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27461904	27461904	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:27461904C>T	uc003xfy.2	-	5	1018	c.871G>A	c.(871-873)Gat>Aat	p.D291N	CLU_uc003xfw.2_Missense_Mutation_p.D280N|CLU_uc003xfx.2_Missense_Mutation_p.D280N|CLU_uc003xfz.2_Missense_Mutation_p.D280N	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	280					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GTCCGGTCATCGTCGCCTTCT	0.517000														20			11		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113234603	113234603	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:113234603C>T	uc010mtz.3	-	15	2937	c.2600_splice	c.e15-1	p.G867_splice	SVEP1_uc010mua.1_Splice_Site_p.G867_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	867					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCACCTGGTCCTGGATAGTC	0.483000														22			21		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133152325	133152325	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:133152325G>A	uc003ytj.3	-	10	1791	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	KCNQ3_uc003yti.3_Silent_p.V402V|KCNQ3_uc010mdt.3_Silent_p.V522V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	522					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V522I(1)		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)			GGCATTACCTGACGGCTCGGA	0.592000														39			18		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703679	103703679	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:103703679C>T	uc001vpy.4	-	3	1286	c.689G>A	c.(688-690)gGa>gAa	p.G230E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	230					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAATATTGTTCCTATAATCCA	0.493000														33			22		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237504	9237504	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:9237504C>T	uc010xkl.2	-	0	123	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	41					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						TGAGCAGGTTCCCCAGCATTG	0.542000														26			17		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103593823	103593823	+	Missense_Mutation	SNP	C	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:103593823C>G	uc001ymm.1	+	1	848	c.717C>G	c.(715-717)ttC>ttG	p.F239L	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_5'UTR	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	239					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGCCGCTGTTCCCCGCCGAGT	0.721000														8			10		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578685	44578685	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:44578685G>A	uc003tlb.3	-	1	1367	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NPC1L1_uc011kbw.2_Silent_p.D437D|NPC1L1_uc003tlc.3_Silent_p.D437D|NPC1L1_uc003tld.3_Silent_p.D437D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	437					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCAAGTCCAGGTCCAGGATTC	0.597000														25			15		0	0	1	0	0
TCEAL2	140597	broad.mit.edu	37	X	101381968	101381968	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:101381968G>A	uc022car.1	+	0	166	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	TCEAL2_uc004eip.3_Missense_Mutation_p.E56K	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						GAGAGTTGAGGAACCGTTAAA	0.473000														3			12		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112024188	112024188	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:112024188G>A	uc004epr.3	-	8	2417	c.2399C>T	c.(2398-2400)tCc>tTc	p.S800F	AMOT_uc004eps.3_Missense_Mutation_p.S391F|AMOT_uc011mtc.1_Missense_Mutation_p.S40F|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	800					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGATGAGTGGGAGAGCAAGCC	0.542000														23			59		0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231792	67231792	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:67231792C>T	uc002lkl.3	+	1	333	c.136C>T	c.(136-138)Cca>Tca	p.P46S		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	46	PH.						insulin receptor binding	p.P46S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAAAAATTTCCAGATGAAAA	0.418000														19			11		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905786	132905786	+	RNA	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:132905786C>T	uc002tti.3	-	6		c.1105G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						ATCAGGTGTTCCTTCAGATGT	0.443000														4			4		0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32093518	32093518	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:32093518G>A	uc002rnx.3	-	8	1188	c.806C>T	c.(805-807)tCg>tTg	p.S269L	MEMO1_uc010ymu.2_Missense_Mutation_p.S246L|MEMO1_uc010ezq.3_Missense_Mutation_p.S269L|MEMO1_uc002rny.3_Non-coding_Transcript|MEMO1_uc002rnz.3_Non-coding_Transcript	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	Homo sapiens mediator of cell motility 1 (MEMO1), transcript variant 1, mRNA.	269					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ATTCAAAAACGAAAAACTCAT	0.423000														7			6		0	0	1	0	0
RTN4IP1	84816	broad.mit.edu	37	6	107040048	107040048	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:107040048G>A	uc003prj.3	-	5	1274	c.797C>T	c.(796-798)tCc>tTc	p.S266F	RTN4IP1_uc010kdd.3_Intron|RTN4IP1_uc003prk.3_Missense_Mutation_p.S166F	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Homo sapiens reticulon 4 interacting protein 1 (RTN4IP1), nuclear gene encoding mitochondrial protein, mRNA.	266						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CGGTTTTAAGGATTTCAACTG	0.428000														48			23		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110980759	110980759	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:110980759G>A	uc003ynr.4	-	2	1865	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	KCNV1_uc010mcw.3_Missense_Mutation_p.S354F	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	354						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GATTCCCACGGATAGAAATAG	0.473000														27			12		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34100323	34100323	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:34100323G>A	uc002hjy.1	-	4	722	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	156					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGGCGGCGCGCACGGCGCCC	0.642000														14			17		0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149172180	149172180	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:149172180G>A	uc010lpi.2	-	6	1504	c.1233C>T	c.(1231-1233)gcC>gcT	p.A411A	ZNF746_uc003wfw.2_Silent_p.A410A	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	410					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTCCAAGATGGCCTCTCCGT	0.632000														6			7		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111689212	111689212	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:111689212G>A	uc003puy.4	-	13	6120	c.5779C>T	c.(5779-5781)Ctc>Ttc	p.L1927F	REV3L_uc003pux.4_Missense_Mutation_p.L1849F|REV3L_uc003puz.4_Missense_Mutation_p.L1849F|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1927					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)		TCTACCATGAGGAGCCGTCCA	0.383000								DNA polymerases (catalytic subunits)						13			12		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88125461	88125461	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:88125461G>A	uc003plv.3	+	4	464	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	C6orf165_uc003plu.2_Missense_Mutation_p.R114Q|C6orf165_uc003plw.3_5'UTR|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	114										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCTGTTACCCGAGAAATTACA	0.398000														30			24		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36256065	36256066	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:36256065_36256066CC>TT	uc021usz.1	+	6	830_831	c.757_758CC>TT	c.(757-759)ccc>TTc	p.P253F		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	253										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCCTTGGCCCCAGGGCACCC	0.619000														24			12		0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336383	3336383	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:3336383G>A	uc010vre.2	-	0	753	c.753C>T	c.(751-753)ggC>ggT	p.G251G		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	251					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AGAGGTGGGAGCCACAAGTAG	0.478000														29			9		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113146050	113146050	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:113146050G>A	uc021qqp.1	+	19	2956	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	NCAM1_uc001pnq.3_Missense_Mutation_p.E836K|NCAM1_uc001pnr.3_Missense_Mutation_p.E826K|NCAM1_uc001pns.3_3'UTR|LOC100288346_uc021qqr.1_5'Flank|NCAM1_uc001pnt.3_Missense_Mutation_p.E75K	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	840					axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCGCCAGCCGAAGTCAAGAC	0.522000														12			7		0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40716	40716	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrGL000218.1:40716C>T	uc011mfn.2	-	2	303	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	LOC100233156_uc003jah.2_Missense_Mutation_p.V72M					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCCAGGTTCACGGCGTCACAC	0.672000														12			4		0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219925171	219925171	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:219925171G>A	uc002vjo.2	-	0	68	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	MIR3131_uc021vxa.1_5'Flank	NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	7					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGTCGGGGCCGGAGCCGGGCG	0.781000														10			5		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156500019	156500019	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:156500019G>A	uc001fpf.3	-	33	4357	c.4282C>T	c.(4282-4284)Cac>Tac	p.H1428Y		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1428					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGGGAGTGAGCTGTCAGT	0.652000														15			14		0	0	1	0	0
AQP10	89872	broad.mit.edu	37	1	154296186	154296186	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:154296186C>T	uc001feu.3	+	4	651	c.611C>T	c.(610-612)tCc>tTc	p.S204F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	204					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTCGGGTTATCCATGGGTGCC	0.632000														61			35		0	0	1	0	0
HTR7P1	93164	broad.mit.edu	37	12	13155476	13155476	+	RNA	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:13155476C>T	uc010shq.2	+	0		c.2101C>T			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		GACAGCCAGACCCTTCTGTCT	0.527000														18			12		0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	161052932	161052932	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:161052932C>T	uc002ubh.2	-	3	157	c.142_splice	c.e3-1	p.N48_splice	ITGB6_uc010fow.1_Splice_Site|ITGB6_uc010fou.2_Splice_Site_p.N48_splice|ITGB6_uc010zcq.1_Splice_Site_p.N6_splice|ITGB6_uc010fov.1_Splice_Site_p.N48_splice	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	48					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAGTAAAATTCTAAAAAAGAA	0.338000														44			29		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711345	15711345	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:15711345G>A	uc002ddr.3	-	13	2975	c.2768C>T	c.(2767-2769)aCg>aTg	p.T923M	KIAA0430_uc002ddq.3_Missense_Mutation_p.T757M|KIAA0430_uc010uzv.2_Missense_Mutation_p.T920M|KIAA0430_uc010uzw.2_Missense_Mutation_p.T923M	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	922						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GATTGCGACCGTGTCTGTTAA	0.493000														33			13		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41450722	41450722	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:41450722G>A	uc002yyq.1	-	25	5055	c.4603C>T	c.(4603-4605)Ctg>Ttg	p.L1535L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1535	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGTCATACAGGATGTAGGAC	0.582000														8			9		0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78177213	78177213	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:78177213G>A	uc001vki.3	+	17	1210	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N	SCEL_uc010thx.2_Missense_Mutation_p.S325N|SCEL_uc001vkj.3_Missense_Mutation_p.S327N	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	347	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTTAAAGAAGTGAAGACCTT	0.289000														10			12		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29102112	29102112	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:29102112C>T	uc002kwu.4	+	5	778	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	197	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCGAAAATTTCCTATAGAATC	0.378000														12			16		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690141	33690141	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:33690141C>T	uc002hjg.4	-	1	933	c.686G>A	c.(685-687)aGg>aAg	p.R229K	SLFN11_uc010ctr.3_Missense_Mutation_p.R229K|SLFN11_uc010ctp.3_Missense_Mutation_p.R229K|SLFN11_uc010ctq.3_Missense_Mutation_p.R229K|SLFN11_uc002hjh.4_Missense_Mutation_p.R229K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	229						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAATTGTCCTTTTTACATA	0.388000														43			31		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162523	48162523	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:48162523C>T	uc002efc.1	-	8	1708	c.1362G>A	c.(1360-1362)aaG>aaA	p.K454K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.K454K	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	454						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTGCAATTTCTTTGGGGTAC	0.498000														35			20		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809759	215809759	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:215809759G>T	uc002vew.3	-	48	7529	c.7309C>A	c.(7309-7311)Cag>Aag	p.Q2437K	ABCA12_uc002vev.3_Missense_Mutation_p.Q2119K|ABCA12_uc010zjn.2_Missense_Mutation_p.Q1364K	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2437	ABC transporter 2.				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)		CATTTGTTCTGTACTTCTTCT	0.418000														16			5		1.23904e-05	1.26223e-05	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32130825	32130825	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:32130825C>T	uc001btk.1	-	55	3868	c.3503G>A	c.(3502-3504)gGa>gAa	p.G1168E	COL16A1_uc001btj.1_Missense_Mutation_p.G966E	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1168	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCTGGGAATCCAGGGGGACC	0.567000														12			30		0	0	1	0	0
FAM177B	400823	broad.mit.edu	37	1	222919901	222919901	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:222919901G>A	uc001hnt.3	+	2	280	c.14G>A	c.(13-15)gGt>gAt	p.G5D	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	5										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						GAGATTGACGGTTTCCAGCAG	0.383000														23			13		0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143231	41143231	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:41143231C>T	uc002ici.1	+	4	1352	c.1340C>T	c.(1339-1341)cCa>cTa	p.P447L		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	447	RUN.									breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCCTCCTCCCCAGGGATGAGC	0.582000														15			17		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2057191	2057191	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:2057191C>T	uc003wpx.4	+	24	3187	c.3049C>T	c.(3049-3051)Cct>Tct	p.P1017S	MYOM2_uc011kwi.2_Missense_Mutation_p.P442S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1017					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGTAGCAATTCCTCTGAAATC	0.408000														15			11		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70964892	70964892	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:70964892G>A	uc001swb.4	-	10	2660	c.2630C>T	c.(2629-2631)tCc>tTc	p.S877F	PTPRB_uc010sto.2_Missense_Mutation_p.S877F|PTPRB_uc010stp.2_Missense_Mutation_p.S787F|PTPRB_uc001swc.4_Missense_Mutation_p.S1095F|PTPRB_uc001swa.4_Missense_Mutation_p.S1007F|PTPRB_uc001swd.4_Missense_Mutation_p.S1094F|PTPRB_uc009zrr.2_Missense_Mutation_p.S974F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	877	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S877F(2)|p.S1095F(1)		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)			TGGTGTTAGGGAAGTAAATCG	0.448000														25			13		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595774	38595774	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:38595774G>A	uc021wvo.1	-	25	4861	c.4809C>T	c.(4807-4809)atC>atT	p.I1603I	SCN5A_uc021wvk.1_Intron|SCN5A_uc021wvl.1_Silent_p.I1549I|SCN5A_uc021wvm.1_Silent_p.I1585I|SCN5A_uc021wvn.1_Silent_p.I1602I|SCN5A_uc021wvp.1_Silent_p.I1603I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_Intron|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1415I|SCN5A_uc021wvi.1_Silent_p.I1469I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1603					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)	ACCCACCCACGATGGAGAGGA	0.562000														5			20		0	0	1	0	0
LOC341056	341056	broad.mit.edu	37	11	122888990	122888990	+	RNA	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:122888990C>T	uc010rzt.2	+	0		c.717C>T								Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA.																		GTCTTCTGCCCCGTTAAAGAA	0.493000														31			17		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219617604	219617604	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:219617604C>T	uc002viy.3	+	16	3465	c.3095C>T	c.(3094-3096)tCc>tTc	p.S1032F	TTLL4_uc010zkl.1_Missense_Mutation_p.S867F|TTLL4_uc010fvx.3_Missense_Mutation_p.S968F|TTLL4_uc010zkm.1_Missense_Mutation_p.S235F	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	1032					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)		TCTCATATCTCCTCTCGCTAT	0.448000														68			33		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676339	123676339	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:123676339G>A	uc010rzz.2	-	0	719	c.719C>T	c.(718-720)tCt>tTt	p.S240F		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGTGATGTGAGAAGCACAGGT	0.507000														19			7		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57089032	57089032	+	Missense_Mutation	SNP	T	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:57089032T>C	uc002qnl.4	+	5	1911	c.1235T>C	c.(1234-1236)cTt>cCt	p.L412P	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L412L(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418000														29			9		0	0	1	0	0
MIR520G	574484	broad.mit.edu	37	19	54225471	54225471	+	RNA	SNP	A	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:54225471A>T	uc021vaj.1	+	0		c.52A>T								Homo sapiens microRNA 520g (MIR520G), microRNA.																		TGTCTGAGAAAAAACAAAGTG	0.413000														37			20		0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49507628	49507628	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:49507628T>A	uc002plr.1	+	3	231	c.218T>A	c.(217-219)gTc>gAc	p.V73D	RUVBL2_uc010yab.2_Missense_Mutation_p.V73D|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.V28D	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	73					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		GGTCGGGCAGTCCTTATTGCT	0.632000														41			29		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79952424	79952424	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:79952424C>T	uc004akr.3	+	46	6609	c.6349C>T	c.(6349-6351)Ctt>Ttt	p.L2117F	VPS13A_uc004akp.4_Missense_Mutation_p.L2117F|VPS13A_uc004akq.4_Missense_Mutation_p.L2117F|VPS13A_uc004aks.3_Missense_Mutation_p.L2078F|VPS13A_uc004akt.3_Missense_Mutation_p.L457F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2117					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGAAATCTTCTTCCTTACAA	0.328000														15			31		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336291	52336291	+	Splice_Site	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:52336291C>T	uc003xqu.4	-	14	1740	c.1639_splice	c.e14-1	p.E547_splice		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	547	Ig-like C2-type 4.				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)				TGCACACCTTCCTAGGGAGCA	0.398000														10			8		0	0	1	0	0
AKR1B10	57016	broad.mit.edu	37	7	134216685	134216685	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:134216685C>T	uc003vrr.3	+	2	580	c.260C>T	c.(259-261)cCc>cTc	p.P87L		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	87			P -> S (in dbSNP:rs2303312).		cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TTTGAGAGACCCCTTGTGAGG	0.463000														52			23		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51331041	51331041	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:51331041C>T	uc002ptl.3	-	1	105	c.74G>A	c.(73-75)gGt>gAt	p.G25D	KLK15_uc002ptm.3_Missense_Mutation_p.G25D|KLK15_uc002ptn.3_Missense_Mutation_p.G25D|KLK15_uc002pto.3_Missense_Mutation_p.G24D|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.G24D|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	25	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACACTCGTCACCTTCCAGCAA	0.582000														33			10		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:66729162C>T	uc010bhq.3	+	2	845	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S	MAP2K1_uc010ujp.2_Missense_Mutation_p.P102S	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	124	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(12)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000														26			25		0	0	1	0	0
KGFLP2	654466	broad.mit.edu	37	9	41962611	41962611	+	RNA	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:41962611C>T	uc004aca.4	-	2		c.898G>A								Homo sapiens keratinocyte growth factor-like protein 2 (KGFLP2), non-coding RNA.																		TGTTTTTTTTCCTCTTACAGG	0.373000														14			3		0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823866	83823866	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:83823866C>T	uc003uhz.3	-	0	352	c.37G>A	c.(37-39)Gga>Aga	p.G13R		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	13					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGTAATACTCCCCAGAAAAGA	0.418000														83			43		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48604128	48604128	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:48604128G>A	uc003gyh.1	-	12	1549	c.944C>T	c.(943-945)cCa>cTa	p.P315L	FRYL_uc003gyk.3_Missense_Mutation_p.P315L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGTAATTAGTGGATATAAAGC	0.303000														19			15		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686862	112686862	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:112686862G>A	uc002thk.1	+	1	349	c.227G>A	c.(226-228)gGa>gAa	p.G76E	MERTK_uc002thl.1_5'UTR|Metazoa_SRP_uc021vmv.1_5'Flank	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	76					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCACATACAGGAAACGTAGCC	0.507000														24			14		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196796131	196796131	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:196796131C>T	uc001gtn.3	+	2	540	c.426C>T	c.(424-426)tcC>tcT	p.S142S	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	142	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AATGCAGGTCCACTGGTAAGT	0.373000														41			16		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803655	185803655	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:185803655C>T	uc002uph.3	+	3	4126	c.3532C>T	c.(3532-3534)Cat>Tat	p.H1178Y		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1178						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTCCGTTCTTCATCCTAGCCA	0.512000														70			51		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102954	168102954	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:168102954A>C	uc002udx.3	+	8	5141	c.5052A>C	c.(5050-5052)aaA>aaC	p.K1684N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1509N|XIRP2_uc010fpq.3_Missense_Mutation_p.K1462N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1509					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGATGAAAAAGGAGATATTA	0.353000														15			12		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75154313	75154313	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:75154313G>A	uc001owo.4	-	11	1353	c.816C>T	c.(814-816)ttC>ttT	p.F272F	GDPD5_uc001owp.4_Silent_p.F272F|GDPD5_uc001own.4_Silent_p.F27F|GDPD5_uc009yuc.3_Silent_p.F134F|GDPD5_uc009yud.3_Silent_p.F153F|GDPD5_uc009yue.1_Silent_p.F160F	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	272	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CATGCATGAGGAAGGGCACGC	0.657000														10			9		0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46638279	46638279	+	Missense_Mutation	SNP	A	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:46638279A>T	uc002eec.4	-	5	824	c.784T>A	c.(784-786)Tta>Ata	p.L262I		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	262										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTCAGATTTAAAAATTTCCTG	0.383000														47			40		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35965560	35965560	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:35965560G>A	uc003olm.3	-	4	693	c.582C>T	c.(580-582)tcC>tcT	p.S194S	SLC26A8_uc003oll.3_Silent_p.S194S|SLC26A8_uc003oln.3_Silent_p.S194S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	194					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCACACTCAAGGATTTATTAT	0.438000														33			14		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067346	9067346	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:9067346G>A	uc002mkp.3	-	2	20304	c.20100C>T	c.(20098-20100)tcC>tcT	p.S6700S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6702	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						GGCCTGGAATGGATGTTCTTC	0.483000														83			60		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215848503	215848503	+	Missense_Mutation	SNP	C	T	T	rs78964730	byFrequency	TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:215848503C>T	uc002vew.3	-	28	4470	c.4250G>A	c.(4249-4251)cGg>cAg	p.R1417Q	ABCA12_uc002vev.3_Missense_Mutation_p.R1099Q|ABCA12_uc010zjn.2_Missense_Mutation_p.R344Q	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1417	ABC transporter 1.				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)		CATGTTCTTCCGTACCGTGTG	0.453000														53			24		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985038	140985038	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:140985038C>T	uc011mwp.2	+	6	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	MAGEC3_uc004fbs.3_Silent_p.F200F|MAGEC3_uc010nsj.3_Silent_p.F200F|MAGEC3_uc022cfh.1_Silent_p.F200F	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	498	MAGE 2.							p.F498F(2)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423000														14			32		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86934746	86934746	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:86934746G>A	uc001dlt.3	+	0	352	c.92G>A	c.(91-93)gGc>gAc	p.G31D	CLCA1_uc001dls.1_Missense_Mutation_p.G31D	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	31					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AACAACAATGGCTATGAAGGC	0.398000														14			22		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167420120	167420120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:167420120G>A	uc010jjd.3	+	4	1119	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*	ODZ2_uc021yhi.1_Nonsense_Mutation_p.W303*|ODZ2_uc003lzq.2_Nonsense_Mutation_p.W252*|ODZ2_uc003lzr.4_Nonsense_Mutation_p.W182*	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACTGCAGCTGGAAATGTGCTG	0.567000														9			22		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Silent	SNP	T	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:11506602T>C	uc001qzw.1	-	2	472	c.435A>G	c.(433-435)ggA>ggG	p.G145G	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	145	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607000														171			4		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061307	9061307	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:9061307G>A	uc002mkp.3	-	2	26343	c.26139C>T	c.(26137-26139)atC>atT	p.I8713I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8715	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I8713I(3)|p.I4346I(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						GAGAGGTACTGATCTCCCTTA	0.493000														19			12		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108189571	108189571	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:108189571C>T	uc003dxa.1	-	13	1474	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	473	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						CCAGTGATGTCAAGAATGCCA	0.413000														18			15		0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079381	57079381	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:57079381G>A	uc003xsq.4	-	2	1375	c.924C>T	c.(922-924)atC>atT	p.I308I	PLAG1_uc003xsr.4_Silent_p.I308I|PLAG1_uc010lyi.3_Silent_p.I308I|PLAG1_uc010lyj.3_Silent_p.I226I|PLAG1_uc022aur.1_Silent_p.I226I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	308	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTAAAGTTGTGATCATTTGGT	0.428000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									75			50		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41272544	41272544	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:41272544G>A	uc001zni.3	-	35	4761	c.4548C>T	c.(4546-4548)tcC>tcT	p.S1516S	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1516	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCTCAAAGGGGAACTCAAAG	0.557000														27			15		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72889537	72889537	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:72889537G>A	uc003pga.3	+	4	808	c.731G>A	c.(730-732)gGg>gAg	p.G244E	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	244					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)				AGGAGCAAAGGGGCTGAGCCC	0.587000														13			4		0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:56369832G>A	uc002qmd.4	+	2	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	358	NACHT.						ATP binding	p.G358R(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)		ATGCAGAAAGGAAAAGACCTG	0.512000														16			4		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603385	37603385	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:37603385C>T	uc002yvg.3	+	13	2382	c.2303C>T	c.(2302-2304)tCc>tTc	p.S768F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S768F	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	768					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTACCTGTCCGAGGAAGAG	0.612000														50			18		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101802	81101802	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:81101802G>A	uc001szf.2	+	0	395	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	102					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CACCCTGCGCGAAAGGAGGAG	0.607000														36			23		0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168143	64168143	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:64168143G>A	uc003ttd.3	+	6	2247	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	ZNF107_uc003tte.3_Silent_p.K487K	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CTAAACATAAGAGAATTCATA	0.333000														6			4		0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243471382	243471382	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:243471382C>T	uc001hzw.3	+	7	1001	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	SDCCAG8_uc010pyk.2_Missense_Mutation_p.R133C|SDCCAG8_uc010pyl.2_Missense_Mutation_p.R90C|SDCCAG8_uc001hzx.3_Missense_Mutation_p.R90C	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	278	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TACTTGTAACCGTGTTGGTGG	0.378000														56			40		0	0	1	0	0
C19orf29-AS1	404665	broad.mit.edu	37	19	3612182	3612182	+	Missense_Mutation	SNP	G	A	A	rs147636108	by1000genomes	TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:3612182G>A	uc021umw.1	+	2	648	c.391G>A	c.(391-393)Gat>Aat	p.D131N	C19orf29_uc010xho.2_Silent_p.I131I|C19orf29_uc010dtn.3_Silent_p.I520I|C19orf29_uc002lyh.3_Silent_p.I672I|C19orf29_uc002lyi.4_Silent_p.I672I|C19orf29_uc010dto.3_Non-coding_Transcript					Homo sapiens C19orf29 antisense RNA 1 (non-protein coding) (C19orf29-AS1), non-coding RNA.																		ATCCCTGCACGATCTTGGGCG	0.582000														102			76		0	0	1	0	0
LENG1	79165	broad.mit.edu	37	19	54660640	54660641	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:54660640_54660641GG>AA	uc002qdm.3	-	2	448_449	c.435_436CC>TT	c.(433-438)gcccca>gcTTca	p.P146S		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	146										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TTCTCATCTGGGGCTGGGCCGG	0.649000														49			39		0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	T	T	rs143763173		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:43098946C>T	uc002oud.2	-	0	137	c.35G>A	c.(34-36)cGc>cAc	p.R12H	AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA.	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000														135			4		0	0	1	0	0
CCDC54	84692	broad.mit.edu	37	3	107097078	107097078	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:107097078C>T	uc003dwi.1	+	0	891	c.644C>T	c.(643-645)cCc>cTc	p.P215L		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	215								p.P215H(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACAATTTCTCCCCAAATGAAA	0.393000														20			18		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483301	28483301	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:28483301G>A	uc001zbj.3	-	24	3917	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1271	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1271L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ATGGATTCCCGGGTGTCTTCA	0.493000														41			23		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27521556	27521556	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:27521556G>A	uc002rjo.3	+	1	593	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TRIM54_uc002rjn.3_Missense_Mutation_p.R97Q	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	97					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding	p.R81Q(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGCAGCGAAACCTGCTA	0.572000														14			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179623779	179623779	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:179623779C>T	uc021vsy.1	-	43	10460	c.10235G>A	c.(10234-10236)gGa>gAa	p.G3412E	TTN_uc021vsz.1_Missense_Mutation_p.G3366E|TTN_uc021vta.1_Missense_Mutation_p.G3366E|TTN_uc021vtb.1_Missense_Mutation_p.G3366E|TTN_uc002umz.1_Missense_Mutation_p.G73E|TTN_uc002unb.2_Missense_Mutation_p.G3412E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4356	Ig-like 20.						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)			CGTGTAAGTTCCTTCATCTTC	0.398000														32			25		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670725	45670725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:45670725C>A	uc002zeg.1	-	9	1361	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	DNMT3L_uc002zeh.1_Nonsense_Mutation_p.E293*	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	293					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCCAGGTCTTCCTTGTTCAGC	0.642000														70			27		4.72057e-08	4.83478e-08	1	1	0
CYP3A4	1576	broad.mit.edu	37	7	99375663	99375663	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:99375663C>T	uc003urv.2	-	2	313	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CYP3A4_uc003urw.2_Missense_Mutation_p.G69E|CYP3A4_uc011kiz.2_Missense_Mutation_p.G69E	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	69					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|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|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCACACTTTTCCATACTTTTT	0.388000														36			19		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764978	77764978	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:77764978G>A	uc003yau.2	+	9	6208	c.5821G>A	c.(5821-5823)Gaa>Aaa	p.E1941K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E1896K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1896						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1940G(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)			TGGTGAAGGCGAAAACACTGA	0.383000										HNSCC(33;0.089)				20			8		0	0	1	0	0
GCAT	23464	broad.mit.edu	37	22	38211173	38211173	+	Missense_Mutation	SNP	C	T	T	rs142152598		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr22:38211173C>T	uc003aua.2	+	4	758	c.695C>T	c.(694-696)tCc>tTc	p.S232F	GCAT_uc003atz.3_Missense_Mutation_p.S206F	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	206					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.S206F(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGGGCCTTTTCCATGGATGGC	0.587000														24			15		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20010427	20010427	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr13:20010427C>T	uc001umd.3	-	15	1266	c.1055G>A	c.(1054-1056)gGa>gAa	p.G352E	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G241E|TPTE2_uc001ume.3_Missense_Mutation_p.G275E|TPTE2_uc009zzm.3_Missense_Mutation_p.G23E|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.G23E	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	352	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGCCTTTCTCCAAAATAATA	0.368000														17			9		0	0	1	0	0
ABHD4	63874	broad.mit.edu	37	14	23072966	23072966	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:23072966C>T	uc001wgm.3	+	3	691	c.622C>T	c.(622-624)Cga>Tga	p.R208*	ABHD4_uc010tmz.1_3'UTR|ABHD4_uc010tna.1_Nonsense_Mutation_p.R208*|ABHD4_uc010tnb.2_Intron	NM_022060	NP_071343	Q8TB40	ABHD4_HUMAN	Homo sapiens abhydrolase domain containing 4 (ABHD4), mRNA.	208					lipid catabolic process		hydrolase activity	p.R208Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		GGCTGTTCTTCGAGTAGCTGG	0.532000														24			23		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140434522	140434523	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:140434522_140434523GG>AA	uc003vwc.4	-	17	2236_2237	c.2175_2176CC>TT	c.(2173-2178)caccgc>caTTgc	p.R726C		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	726					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GATGCACTGCGGTGAATTTTTG	0.401000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					81			56		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118320038	118320038	+	Splice_Site	SNP	T	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr10:118320038T>G	uc001lcm.3	+	11	1212	c.1169_splice	c.e11+2	p.K390_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	390	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AATTTTCAAGTGAGTAAAATA	0.393000														4			8		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	109964334	109964334	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:109964334C>T	uc010ywt.1	+	1	778	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	260	SH3 2.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CGCCCCGCCCCAGGGAAAAGC	0.597000														4			5		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39406325	39406325	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:39406325G>A	uc010xup.1	-	16	1644	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L	SARS2_uc002ojz.2_Missense_Mutation_p.P303L|SARS2_uc002oka.2_Missense_Mutation_p.P493L|SARS2_uc010xuq.1_Missense_Mutation_p.P493L	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	493					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACGTGGGTAGGGGCTGTGAT	0.652000														33			23		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651007	121651007	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:121651007C>T	uc003vjy.3	+	11	2302	c.1907C>T	c.(1906-1908)tCa>tTa	p.S636L	PTPRZ1_uc011knt.2_Missense_Mutation_p.S636L|PTPRZ1_uc003vjz.3_Missense_Mutation_p.S636L	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	636					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S636T(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATTCAACTTCATCAGGTTCA	0.418000														18			16		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21216873	21216873	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:21216873C>T	uc003zor.1	-	0	438	c.432G>A	c.(430-432)agG>agA	p.R144R	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	144					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAAAGTATTTCCTCACAGCCA	0.458000														43			68		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20226842	20226842	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:20226842G>A	uc002wru.3	+	18	2256	c.2142G>A	c.(2140-2142)agG>agA	p.R714R	C20orf26_uc010zse.2_Silent_p.R694R|C20orf26_uc002wrw.3_Non-coding_Transcript|C20orf26_uc002wrv.3_Silent_p.R70R	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	714										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTGAACAAAGGAAATTTTTAG	0.343000														31			8		0	0	1	0	0
MINA	84864	broad.mit.edu	37	3	97686114	97686114	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:97686114C>T	uc003drz.1	-	1	830	c.324G>A	c.(322-324)ggG>ggA	p.G108G	MINA_uc003dsa.1_Silent_p.G108G|MINA_uc003dsb.1_Silent_p.G108G|MINA_uc003dsc.1_Silent_p.G108G|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	108					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCTTCTTCTTCCCATTGACAC	0.438000														139			78		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7586024	7586024	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:7586024C>T	uc010sge.2	-	2	417	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CD163L1_uc001qsy.3_Missense_Mutation_p.E131K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	131	SRCR 1.					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						CTTCCCCATTCCCGGTGTTGA	0.438000														48			21		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66359343	66359343	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr11:66359343G>A	uc001oiq.4	-	0	1212	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	382										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAACCCCCAGGAGAGGAGGC	0.592000														36			24		0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112648256	112648256	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:112648256G>A	uc003dzj.1	-	3	534	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	CD200R1_uc003dzk.1_Silent_p.L78L|CD200R1_uc011bhx.1_Silent_p.L56L|CD200R1_uc003dzl.1_Silent_p.L101L|CD200R1_uc003dzm.1_Silent_p.L78L	NM_138806	NP_620161	Q8TD46	MO2R1_HUMAN	Homo sapiens CD200 receptor 1 (CD200R1), transcript variant 1, mRNA.	78	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGCCTCTCAGGATTATTTCC	0.423000														30			16		0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312213	46312213	+	Missense_Mutation	SNP	G	A	A	rs138677063		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:46312213G>A	uc011bzc.1	-	4	783	c.371C>T	c.(370-372)tCa>tTa	p.S124L	GABRA2_uc003gxc.3_Missense_Mutation_p.S179L|GABRA2_uc010igc.2_Missense_Mutation_p.S179L|GABRA2_uc003gxe.3_Missense_Mutation_p.S179L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	179					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.S179L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGAGGACATGAATGAGCATC	0.388000														21			30		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40585785	40585785	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:40585785C>T	uc001zld.3	-	19	2503	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Silent_p.K730K|PLCB2_uc010ucm.2_Silent_p.K734K	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	734	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGGGCTCCTCCTTCCAGACAG	0.527000														54			40		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197659062	197659062	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:197659062G>A	uc003fyo.3	-	4	773	c.627C>T	c.(625-627)ttC>ttT	p.F209F	IQCG_uc003fyn.3_Silent_p.F111F|IQCG_uc003fyp.3_Silent_p.F209F|IQCG_uc003fyq.4_Silent_p.F209F	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	209										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATGTCATAGAAATGCATTT	0.393000														15			28		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53613010	53613010	+	Silent	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:53613010A>G	uc002qax.3	-	6	781	c.432T>C	c.(430-432)ttT>ttC	p.F144F	ZNF415_uc010yds.2_Silent_p.F96F|ZNF415_uc010ydt.2_Silent_p.F96F|ZNF415_uc002qau.3_Silent_p.F83F|ZNF415_uc002qav.3_Silent_p.F108F|ZNF415_uc002qaw.3_Silent_p.F96F|ZNF415_uc002qay.3_Silent_p.F83F|ZNF415_uc002qaz.3_Silent_p.F144F|ZNF415_uc002qba.3_5'UTR			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACTGACAGTCAAAGTCGTGTA	0.398000														40			19		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139180190	139180190	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:139180190C>T	uc003yuy.3	-	11	1377	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	FAM135B_uc003yux.3_Nonsense_Mutation_p.W303*|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	402										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)			GCAGGGTGTTCCAATCGCCGT	0.552000										HNSCC(54;0.14)				58			35		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186938046	186938046	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:186938046C>T	uc003frh.2	-	15	2303	c.1913G>A	c.(1912-1914)gGa>gAa	p.G638E		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	638	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGCGTCCTTTCCCCCTAGGTG	0.537000											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		4			11		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36155840	36155840	+	Missense_Mutation	SNP	G	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:36155840G>C	uc001wtj.3	-	17	2858	c.2467C>G	c.(2467-2469)Cct>Gct	p.P823A	RALGAPA1_uc001wti.3_Missense_Mutation_p.P823A|RALGAPA1_uc010tpv.2_Intron|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P870A|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P721A	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	823					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTATTAAGAGGAGGCAGTTTT	0.353000														3			7		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10091971	10091972	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:10091971_10091972GG>AA	uc002raa.3	+	0	180_181	c.9_10GG>AA	c.(7-12)caggag>caAAag	p.E4K	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	4	Transcription activation.				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGATGACACAGGAGTACGACAA	0.752000														16			8		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983875	97983875	+	Silent	SNP	G	A	A	rs146320551		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:97983875G>A	uc003dsi.1	+	0	747	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G249G(2)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTATCAAAGGGATACGAAAAG	0.388000														22			13		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18875090	18875090	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:18875090G>A	uc003sui.3	+	19	2508	c.2467_splice	c.e19-1	p.D823_splice	HDAC9_uc003sue.3_Splice_Site_p.D820_splice|HDAC9_uc011jyd.2_Splice_Site_p.D820_splice|HDAC9_uc003suh.3_Splice_Site_p.D820_splice|HDAC9_uc003suj.3_Splice_Site_p.D779_splice|HDAC9_uc003suk.3_Splice_Site_p.D68_splice	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	820	Histone deacetylase.				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			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)	TTCCCTGTAGGATGTTCACCA	0.443000														13			5		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784887	82784887	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:82784887C>A	uc003uhx.2	-	1	1359	c.1070G>T	c.(1069-1071)gGg>gTg	p.G357V	PCLO_uc003uhv.2_Missense_Mutation_p.G357V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	323	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G357G(1)		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						CTTTGTTGTCCCTGGTGGCTG	0.602000														26			3		0.004672	0.00469665	1	1	0
LCN2	3934	broad.mit.edu	37	9	130915390	130915390	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:130915390G>A	uc004bto.1	+	5	662	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_005564	NP_005555	P80188	NGAL_HUMAN	Homo sapiens lipocalin 2 (LCN2), mRNA.	197					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCAGTGTATCGACGGCTGAGT	0.607000														78			48		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280832	238280832	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:238280832G>T	uc002vwl.2	-	8	4113	c.3828C>A	c.(3826-3828)ttC>ttA	p.F1276L	COL6A3_uc002vwo.2_Missense_Mutation_p.F1070L|COL6A3_uc010znj.1_Missense_Mutation_p.F669L|COL6A3_uc002vwq.3_Missense_Mutation_p.F1070L|COL6A3_uc002vwr.3_Missense_Mutation_p.F869L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1276	Nonhelical region.|VWFA 7.				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)		GGTCATCGCTGAACTGGATGA	0.617000														18			11		3.86212e-05	3.91348e-05	1	1	0
TBC1D22A	25771	broad.mit.edu	37	22	47189461	47189461	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr22:47189461C>T	uc003bib.3	+	2	349	c.183C>T	c.(181-183)ttC>ttT	p.F61F	TBC1D22A_uc010haf.3_Silent_p.F31F|TBC1D22A_uc003bie.3_Silent_p.F42F|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.F14F	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	61						intracellular	Rab GTPase activator activity|protein homodimerization activity	p.T60S(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TCAGCACCTTCCAGGAGTTTG	0.592000														31			15		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228528583	228528583	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:228528583C>T	uc009xez.1	+	71	17735	c.17691C>T	c.(17689-17691)atC>atT	p.I5897I	OBSCN_uc001hsn.3_Silent_p.I5897I|OBSCN_uc001hsr.1_Silent_p.I526I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5897	PH.				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)				GCGAGCCCATCCGCCAGGTTG	0.672000														5			5		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245862241	245862241	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:245862241G>A	uc001ibf.1	+	13	6520	c.6080G>A	c.(6079-6081)aGg>aAg	p.R2027K		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2027					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGCCAGCAGAGGATCGCCGAG	0.557000														24			13		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121001176	121001176	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr3:121001176C>T	uc003eec.4	+	19	2314	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	STXBP5L_uc011bji.2_Intron	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	725					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)		ATCCGTACTTCCTATCAGAGT	0.393000														18			13		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112815	81112815	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:81112815C>T	uc001szg.2	+	2	888	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	251					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCAGGCTTATCTATCATGTGC	0.483000														23			14		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669384	53669384	+	Missense_Mutation	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:53669384A>G	uc010eqm.1	-	3	459	c.359T>C	c.(358-360)cTc>cCc	p.L120P		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TCTACCAGGGAGATTTTCTTT	0.403000														61			46		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75688769	75688769	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr15:75688769G>A	uc002bai.3	-	12	2182	c.1923C>T	c.(1921-1923)tcC>tcT	p.S641S	SIN3A_uc002baj.3_Silent_p.S641S|SIN3A_uc010uml.2_Silent_p.S641S	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	641	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				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						CAGACAAGCGGGAAAGCTTCT	0.463000														36			18		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48142390	48142390	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:48142390T>A	uc002efc.1	-	16	2678	c.2332A>T	c.(2332-2334)Acc>Tcc	p.T778S	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	778						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTTTTCCAGGTCACGGTTCCT	0.458000														27			16		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107720083	107720083	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:107720083G>A	uc010ljo.1	-	14	1934	c.1850C>T	c.(1849-1851)cCt>cTt	p.P617L	LAMB4_uc003vey.2_Missense_Mutation_p.P617L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	617	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAAGTCCACAGGAAAGGGAAT	0.473000														29			10		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961871	73961871	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chrX:73961871T>A	uc004eby.3	-	2	3138	c.2521A>T	c.(2521-2523)Aat>Tat	p.N841Y		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	841					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGCCTTCATTTTGCTCTGGA	0.483000														7			26		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834785	125834785	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:125834785G>A	uc001uhe.1	+	1	848	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TMEM132B_uc021rgl.1_Silent_p.E170E	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	280						integral to membrane		p.D279H(1)		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)		GCTTGGACGAGAATGTGGTCA	0.562000														90			53		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130778026	130778026	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:130778026G>A	uc003ysr.3	-	3	1300	c.418C>T	c.(418-420)Cca>Tca	p.P140S		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	140						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GATGGCTCTGGATCCAACAGT	0.507000														20			15		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130774	45130774	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:45130774C>T	uc002xsa.3	-	3	1735	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	ZNF334_uc002xsb.3_Missense_Mutation_p.E364K|ZNF334_uc002xsd.3_Missense_Mutation_p.E364K|ZNF334_uc002xsc.3_Missense_Mutation_p.E402K|ZNF334_uc010ghl.3_Missense_Mutation_p.E401K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R425K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TAGGGTTTTTCCCCTGTGTGA	0.433000														65			36		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2282857	2282857	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:2282857C>T	uc002cpm.3	+	5	879	c.831C>T	c.(829-831)atC>atT	p.I277I	E4F1_uc010bsi.3_Silent_p.I277I|E4F1_uc010bsj.3_Silent_p.I277I	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	277					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGAGAAAATCCGCTTCAGTG	0.612000														29			34		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7416106	7416106	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:7416106C>T	uc002ghf.4	+	27	5006	c.4620C>T	c.(4618-4620)acC>acT	p.T1540T		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1540					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)				GTGGAATGACCCCAGGGGCAG	0.632000														70			36		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113487	145113487	+	Missense_Mutation	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:145113487C>T	uc003zar.3	-	5	777	c.695G>A	c.(694-696)gGg>gAg	p.G232E	OPLAH_uc003zat.1_Missense_Mutation_p.G10E	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	232							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GGCCGTGTGCCCCCGAGGGAC	0.677000														28			14		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055212	167055212	+	Missense_Mutation	SNP	T	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:167055212T>A	uc010fpl.3	-	26	6245	c.5904A>T	c.(5902-5904)aaA>aaT	p.K1968N	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1979						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1967E(1)|p.D1967Y(1)		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)	TGTCTTTCCCTTTGTCTTCCT	0.358000														9			7		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92731648	92731648	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:92731648G>A	uc003umf.3	-	2	4033	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S	SAMD9_uc003umg.3_Missense_Mutation_p.P1255S|SAMD9_uc022ahg.1_Missense_Mutation_p.P1255S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1255						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAATAAGGAATATAGTTT	0.289000														36			21		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898207	75898207	+	Missense_Mutation	SNP	T	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:75898207T>G	uc021zbv.1	-	6	903	c.868A>C	c.(868-870)Aca>Cca	p.T290P	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.T290P|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	290	VWFA 1.				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						AGTGAAGGTGTGGAGGCAATT	0.408000														50			23		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667109	156667109	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:156667109G>A	uc003lwo.1	+	9	971	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	297	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCACATCAAGGAAACAAATGA	0.348000			T	SYK	peripheral T-cell lymphoma									10			15		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71478068	71478068	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:71478068G>A	uc001dfn.3	-	1	1228	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	PTGER3_uc001dfg.1_Missense_Mutation_p.R333C|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Missense_Mutation_p.R333C|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.R333C|PTGER3_uc009wbm.1_Missense_Mutation_p.R333C|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Missense_Mutation_p.R333C|PTGER3_uc009wbo.3_Missense_Mutation_p.R333C|PTGER3_uc001dfo.3_Missense_Mutation_p.R333C|PTGER3_uc001dfp.1_Missense_Mutation_p.R333C|PTGER3_uc001dfq.3_Missense_Mutation_p.R333C	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	333					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	p.R333S(2)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GAAGCCAGGCGAACAGCTATT	0.428000														8			12		0	0	1	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														61			4		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109690823	109690823	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr12:109690823C>T	uc001tob.3	+	42	6024	c.5905C>T	c.(5905-5907)Ctg>Ttg	p.L1969L	ACACB_uc001toc.3_Silent_p.L1969L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L635L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1969	Carboxyltransferase.				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)	AAAGCAGGTCCTGGGAAGAGA	0.512000														58			39		0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901474	40901474	+	Missense_Mutation	SNP	A	C	C			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:40901474A>C	uc002onr.3	-	6	3054	c.2785T>G	c.(2785-2787)Tcc>Gcc	p.S929A	PRX_uc002onq.3_Missense_Mutation_p.S790A|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	929					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGAACTTGGAAGAGGGCTTG	0.547000														68			37		0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101020717	101020717	+	Missense_Mutation	SNP	C	T	T	rs79298856		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr8:101020717C>T	uc003yjb.1	-	14	2442	c.2247G>A	c.(2245-2247)atG>atA	p.M749I	RGS22_uc003yja.1_Missense_Mutation_p.M568I|RGS22_uc003yjc.1_Missense_Mutation_p.M737I|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.M138I	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	749					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GCTGTATTTTCATATAAATTT	0.403000														27			12		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154705564	154705564	+	Missense_Mutation	SNP	G	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:154705564G>T	uc021pah.1	-	4	1864	c.1550C>A	c.(1549-1551)tCc>tAc	p.S517Y	KCNN3_uc001ffo.3_Missense_Mutation_p.S197Y|KCNN3_uc001ffp.3_Missense_Mutation_p.S502Y	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.	507						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)			GAATGTGATGGAGATGAGCCA	0.517000														30			12		4.36969e-10	4.4996e-10	1	1	0
AP3D1	8943	broad.mit.edu	37	19	2118669	2118669	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:2118669G>A	uc002lva.3	-	14	1867	c.1644C>T	c.(1642-1644)gcC>gcT	p.A548A	AP3D1_uc002luy.3_Silent_p.A457A|AP3D1_uc002luz.3_Silent_p.A548A	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	548					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		GCTGGGTGACGGCCTGAGCGC	0.647000														21			18		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43376041	43376041	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:43376041G>A	uc002ovd.1	-	2	725	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S196F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.S196F|PSG3_uc002ovb.3_Missense_Mutation_p.S196F	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	196	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTTGGTTTCGGACAGCTTCAA	0.522000														169			103		0	0	1	0	0
PLA2G2C	391013	broad.mit.edu	37	1	20501688	20501688	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:20501688G>A	uc009vpq.1	-	1	1	c.1_splice	c.e1-1	p.M1_splice		NM_001105572	NP_001099042			Homo sapiens phospholipase A2, group IIC (PLA2G2C), mRNA.											NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)	7		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.14e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.000528)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAATGAGCATGATGCTGCCTT	0.517000														6			11		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707241	242707241	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:242707241G>A	uc002wce.1	+	9	1596	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	D2HGDH_uc010fzq.1_Missense_Mutation_p.E341K|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.E174K	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	475					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CGTCAGCGCGGAGCACGGAGT	0.692000														15			13		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882633	47882633	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr7:47882633G>A	uc003tny.2	-	33	5406	c.5372C>T	c.(5371-5373)tCc>tTc	p.S1791F		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1791					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						GCCCGGCAGGGAAGCTTCTTG	0.473000														18			8		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205964	36205964	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:36205964G>A	uc002oay.3	+	1	646	c.436G>A	c.(436-438)Gga>Aga	p.G146R	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	146					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGACCCTGGAGAGAAGCA	0.547000														18			13		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823280	38823280	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr22:38823280G>A	uc003avs.1	-	1	955	c.858C>T	c.(856-858)atC>atT	p.I286I	KCNJ4_uc003avt.1_Silent_p.I286I|KCNJ4_uc021wpp.1_Silent_p.I286I	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	286					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGATGACCACGATCTCAAAGT	0.622000														19			13		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771695	46771695	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:46771695G>A	uc002eei.4	-	2	1045	c.929C>T	c.(928-930)cCt>cTt	p.P310L	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	310					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TGGGCACTGAGGGCCAGGCCC	0.652000														43			32		0	0	1	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2286876	2286876	+	Missense_Mutation	SNP	C	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:2286876C>A	uc002cpo.3	+	0	453	c.59C>A	c.(58-60)gCc>gAc	p.A20D	DNASE1L2_uc002cpn.3_Missense_Mutation_p.A20D|DNASE1L2_uc002cpp.3_Missense_Mutation_p.A20D|DNASE1L2_uc002cpq.3_Missense_Mutation_p.A20D	NM_001374	NP_001365	Q92874	DNSL2_HUMAN	Homo sapiens deoxyribonuclease I-like 2 (DNASE1L2), mRNA.	20					DNA catabolic process	extracellular region	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						GCCGGGACCGCCGCGCTTCGC	0.711000														12			7		8.12818e-05	8.19269e-05	1	1	0
SULT2B1	6820	broad.mit.edu	37	19	49079341	49079341	+	Splice_Site	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr19:49079341G>A	uc002pjl.3	+	2	295	c.214_splice	c.e2+1	p.G72_splice	SULT2B1_uc002pjm.3_Splice_Site_p.G57_splice	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	72					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCCAAGTCAGGTACCTGCCGG	0.622000														42			32		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370128	126370128	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr4:126370128G>A	uc003ifj.4	+	8	7957	c.7957G>A	c.(7957-7959)Gag>Aag	p.E2653K	FAT4_uc011cgp.2_Missense_Mutation_p.E951K|FAT4_uc003ifi.1_Missense_Mutation_p.E131K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2653	Cadherin 25.				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						ctCCTCTTACGAGAAACTTGA	0.373000														11			16		0	0	1	0	0
ARID3C	138715	broad.mit.edu	37	9	34622353	34622353	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr9:34622353G>A	uc011lon.2	-	4	1039	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	347	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CCCCTCAGGGGAACCTTGCCA	0.622000														12			11		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261910	125261910	+	Silent	SNP	C	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:125261910C>T	uc010flu.3	+	7	1468	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	CNTNAP5_uc002tno.3_Silent_p.P367P	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	367	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P367Q(2)|p.P367P(2)|p.P367H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGATTGTGCCCATCACATTTG	0.463000														38			29		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921025	247921025	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr1:247921025G>A	uc010pza.2	-	0	684	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGTAGAGGTGATCTTCAGAA	0.493000														11			13		0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629108	19629108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:19629108G>A	uc002ykv.3	+	1	753	c.362G>A	c.(361-363)tGg>tAg	p.W121*	CHODL_uc002ykr.3_Nonsense_Mutation_p.W80*|CHODL_uc002yks.3_Nonsense_Mutation_p.W80*|CHODL_uc021whr.1_Nonsense_Mutation_p.W80*|CHODL_uc002ykt.3_Nonsense_Mutation_p.W80*|CHODL_uc002yku.3_Nonsense_Mutation_p.W80*|CHODL_uc021whs.1_Nonsense_Mutation_p.W102*	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	121	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		CTCTACCAGTGGTCTGATGGA	0.517000														34			40		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791862	8791862	+	Silent	SNP	G	A	A	rs139885994		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr17:8791862G>A	uc002glt.3	-	9	1309	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	PIK3R5_uc010vuz.2_Silent_p.H414H|PIK3R5_uc021tqc.1_Silent_p.H28H|PIK3R5_uc010cob.2_Silent_p.H28H|PIK3R5_uc010coa.2_Silent_p.H28H|PIK3R5_uc002glu.4_Silent_p.H28H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	414					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CAGGCCTGCGGTGGCCTCGGC	0.637000														5			7		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566166	155566166	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:155566166G>A	uc002tyv.1	+	1	949	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Missense_Mutation_p.D252N	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	252					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			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)	ACTTGAACTGGATGTAGGTTT	0.463000														40			23		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991184	28991185	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr18:28991184_28991185CC>TT	uc002kwr.2	+	13	2320_2321	c.2185_2186CC>TT	c.(2185-2187)ccc>TTc	p.P729F	DSG4_uc002kwq.2_Intron	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	710					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)			CCAACATCCTCCCTTTTCAGAA	0.609000														31			15		0	0	1	0	0
MYLK3	91807	broad.mit.edu	37	16	46771693	46771693	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr16:46771693G>A	uc002eei.4	-	2	1047	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	MYLK3_uc010vge.2_Intron|MYLK3_uc002eej.1_5'UTR	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	311					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTGGGCACTGAGGGCCAGGC	0.657000														42			31		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219028978	219028978	+	Silent	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:219028978G>A	uc021vwq.1	-	0	957	c.957C>T	c.(955-957)atC>atT	p.I319I	CXCR1_uc002vhc.3_Silent_p.I319I|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	319					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GCATAGCCAGGATCTTGAGGA	0.502000														37			25		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493232	20493232	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr20:20493232G>A	uc002wrz.3	-	31	4924	c.4781C>T	c.(4780-4782)cCa>cTa	p.P1594L	RALGAPA2_uc002wry.3_Missense_Mutation_p.P1209L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.P1042L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.P366L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1594					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GGGCTCCACTGGGGAGGGCTG	0.473000														17			6		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27706215	27706215	+	Missense_Mutation	SNP	G	A	A			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr2:27706215G>A	uc002rku.3	-	6	562	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	IFT172_uc002rkv.3_Missense_Mutation_p.H171Y|IFT172_uc010yls.2_Missense_Mutation_p.H150Y|IFT172_uc010ezc.3_Missense_Mutation_p.H171Y	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	171					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)					CCATCTGCATGACCAGAGAGA	0.423000														21			14		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112151249	112151252	+	Frame_Shift_Del	DEL	CACT	-	-	rs143341972		TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr5:112151249_112151252delCACT	uc003kpz.4	+	9	1085_1088	c.892_895delCACT	c.(892-897)cactctfs	p.H298fs	APC_uc011cvt.2_Frame_Shift_Del_p.H280fs|APC_uc003kpy.4_Frame_Shift_Del_p.H298fs|APC_uc010jbz.3_Frame_Shift_Del_p.H15fs	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	298	Leu-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.H298fs*28(2)|p.S299fs*27(2)		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)		TAGTAGCACACACTCTGCACCTCG	0.407		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)			---	9	---	---	14	---					
OR12D2	26529	broad.mit.edu	37	6	29364925	29364926	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr6:29364925_29364926insT	uc003nmf.4	+	0	510_511	c.449_450insT	c.(448-450)ggtfs	p.G150fs		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCATG	0.470													---	52	---	---	61	---					
KCNJ15	3772	broad.mit.edu	37	21	39672237	39672239	+	In_Frame_Del	DEL	GAG	-	-			TCGA-D9-A4Z6-01A-12D-A25O-08	TCGA-D9-A4Z6-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C277BDF0-AADC-41EE-B795-494857E3074A	673FC797-CDFC-4057-B767-5CF96672A66B	g.chr21:39672237_39672239delGAG	uc021wjc.1	+	0	1054_1056	c.1054_1056delGAG	c.(1054-1056)gagdel	p.E353del	KCNJ15_uc002ywv.3_In_Frame_Del_p.E353del|KCNJ15_uc002yww.3_In_Frame_Del_p.E353del|KCNJ15_uc002ywx.3_In_Frame_Del_p.E353del	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	353					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						ACAGCAACTCGAGGAGAAGTACA	0.443													---	29	---	---	25	---					
