Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
USP47	55031	broad.mit.edu	37	11	11941997	11941997	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr11:11941997C>T	uc001mjs.3	+	9	1937	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	USP47_uc001mjq.1_Missense_Mutation_p.P412S|USP47_uc001mjr.3_Missense_Mutation_p.P324S	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	412					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AATGACATTTCCCGAGGAACT	0.313000													3	55					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063170	41063170	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:41063170G>A	uc002ony.3	+	25	5617	c.5531G>A	c.(5530-5532)cGa>cAa	p.R1844Q	SPTBN4_uc002onx.3_Missense_Mutation_p.R1844Q|SPTBN4_uc002onz.3_Missense_Mutation_p.R1844Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R587Q|SPTBN4_uc002ooa.3_Missense_Mutation_p.R520Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1844					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A1843S(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTGACGCCCGAGAGCTTCAG	0.662000													4	20					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123845046	123845046	+	Missense_Mutation	SNP	T	T	C	rs150064065	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr10:123845046T>C	uc001lfv.3	+	3	3391	c.3031T>C	c.(3031-3033)Tgt>Cgt	p.C1011R	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.C1011R|TACC2_uc010qtv.2_Missense_Mutation_p.C1011R	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	1011						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGAAGAAGCATGTCAAAGGCA	0.547000													4	84					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187506267	187506267	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:187506267G>A	uc002upq.3	+	11	1387	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	ITGAV_uc010frs.3_Missense_Mutation_p.G335S|ITGAV_uc010zfv.2_Missense_Mutation_p.G325S	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	371					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGCACGGTTTGGCAGTGCCAT	0.498000													3	108					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44778900	44778900	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:44778900G>A	uc001clt.3	-	5	848	c.607_splice	c.e5-1	p.L203_splice	ERI3_uc010okv.2_Splice_Site_p.L26_splice|ERI3_uc010okw.2_Splice_Site_p.L125_splice	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	203	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCCGGTGAGCTGAAAGGAA	0.498000													17	57					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581933	55581933	+	Silent	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr10:55581933G>A	uc010qhy.1	-	34	5969	c.5574C>T	c.(5572-5574)aaC>aaT	p.N1858N	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.N1853N|PCDH15_uc021pqz.1_Silent_p.N1828N|PCDH15_uc010qhv.1_Silent_p.N1848N|PCDH15_uc010qhw.1_Silent_p.N1811N|PCDH15_uc010qhx.1_Silent_p.N1782N|PCDH15_uc010qhz.1_Silent_p.N1853N|PCDH15_uc010qia.1_Silent_p.N1831N|PCDH15_uc001jju.1_Silent_p.N1851N|PCDH15_uc010qib.1_Silent_p.N1828N	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1851					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGCATCAAGTTGGTCGTGC	0.468000										HNSCC(58;0.16)			5	104					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7734797	7734797	+	Silent	SNP	C	C	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr17:7734797C>G	uc002giu.1	+	79	12563	c.12549C>G	c.(12547-12549)tcC>tcG	p.S4183S	DNAH2_uc010cnm.1_Silent_p.S1121S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4183					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGACCCCTCCCCCCTCAATG	0.547000													24	72					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155262969	155262969	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:155262969G>A	uc001fkb.4	-	9	1475	c.1436_splice	c.e9+1	p.R479_splice	PKLR_uc001fka.4_Splice_Site_p.R448_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	479	Allosteric activator binding.		R -> H (in PKRD; Amish; no conformational change).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCCCTCACCGGCCAGTTGTG	0.602000													39	118					0	0	1	0	0
TMEM132C	92293	broad.mit.edu	37	12	129180556	129180556	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:129180556G>A	uc021rgn.1	+	6	1837	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	Homo sapiens transmembrane protein 132C (TMEM132C), mRNA.	613						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TCACCTGGTGGCAGACTTCAT	0.612000													26	79					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39479787	39479787	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr22:39479787G>T	uc021wpr.1	+	4	926	c.633G>T	c.(631-633)tgG>tgT	p.W211C	APOBEC3F_uc003awx.3_Missense_Mutation_p.W211C|APOBEC3F_uc003awy.3_Missense_Mutation_p.W144C	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	211					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ATGAACCTTGGGTCAGAGGAC	0.527000													4	108					0.000602214	0.000619421	1	1	0
ASIP	434	broad.mit.edu	37	20	32856797	32856797	+	Splice_Site	SNP	A	A	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr20:32856797A>G	uc002xah.1	+	3	233	c.223_splice	c.e3-1	p.K75_splice		NM_001672	NP_001663	P42127	ASIP_HUMAN	Homo sapiens agouti signaling protein (ASIP), mRNA.	75	Arg/Lys-rich (basic).				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						TCCCACGCAGAAGGAGGCTTC	0.697000													5	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544315	82544315	+	Silent	SNP	A	A	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:82544315A>G	uc003uhx.2	-	6	13276	c.12987T>C	c.(12985-12987)agT>agC	p.S4329S	PCLO_uc003uhv.2_Silent_p.S4329S|PCLO_uc010lec.3_Silent_p.S1294S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4260					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGATGCATGACTAAAGGAAA	0.428000													45	119					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64702014	64702014	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr15:64702014G>C	uc002anm.3	+	6	1090	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	344					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCACTAGCAGAGTATCATAG	0.433000													12	26					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24981475	24981475	+	Silent	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:24981475T>C	uc001bjm.3	+	8	1394	c.1170T>C	c.(1168-1170)ccT>ccC	p.P390P	SRRM1_uc010oel.2_Silent_p.P390P|SRRM1_uc009vrh.1_Silent_p.P351P|SRRM1_uc009vri.1_Silent_p.P307P|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	390	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGTTATCTCCTTCAGCAAGTC	0.552000													18	68					0	0	1	0	0
PIPOX	51268	broad.mit.edu	37	17	27379969	27379969	+	Missense_Mutation	SNP	G	G	C	rs58011977	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr17:27379969G>C	uc002hdr.1	+	2	621	c.295G>C	c.(295-297)Gag>Cag	p.E99Q		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	99					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GGGAATGAAAGAGAATCAAGA	0.448000													20	112					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111878371	111878371	+	Silent	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr10:111878371G>T	uc001kyu.3	+	5	750	c.594G>T	c.(592-594)gtG>gtT	p.V198V	ADD3_uc001kyt.4_Silent_p.V198V|ADD3_uc001kys.4_Silent_p.V198V|ADD3_uc001kyv.3_Silent_p.V198V|ADD3_uc001kyw.3_Silent_p.V198V	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	198						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TAGGAGAAGTGGTTGACCAGG	0.383000													3	104					0.004672	0.0047378	1	1	0
ZFX	7543	broad.mit.edu	37	X	24197627	24197627	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chrX:24197627T>G	uc011mjv.2	+	4	752	c.503T>G	c.(502-504)aTg>aGg	p.M168R	ZFX_uc004dbd.2_Missense_Mutation_p.M129R|ZFX_uc004dbf.3_Missense_Mutation_p.M129R|ZFX_uc004dbe.3_Missense_Mutation_p.M129R|ZFX_uc022bua.1_Missense_Mutation_p.M129R|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Missense_Mutation_p.M129R	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TCAATGTCTATGCCAGAACAC	0.428000													7	373					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281098	158281098	+	Silent	SNP	G	G	A	rs149144627	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr4:158281098G>A	uc003ipm.4	+	12	2553	c.2094G>A	c.(2092-2094)gcG>gcA	p.A698A	GRIA2_uc011cit.2_Silent_p.A651A|GRIA2_uc003ipl.4_Silent_p.A698A|GRIA2_uc003ipk.4_Silent_p.A651A|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Silent_p.A8A|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Silent_p.A8A|GRIA2_uc011ciy.1_Silent_p.A8A|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGCGGAGTGCGGAGCCCTCTG	0.483000													32	116					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs80035763	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr10:43659419G>T	uc001jan.3	+	4	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(10)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000													4	137					0.150653	0.150653	1	1	0
MTUS2	23281	broad.mit.edu	37	13	29675028	29675028	+	Silent	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr13:29675028C>T	uc001usl.4	+	2	2653	c.2595C>T	c.(2593-2595)gtC>gtT	p.V865V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	855	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTGGCTTTGTCCGGAGCTCCA	0.622000													11	36					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161071428	161071428	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr6:161071428C>T	uc003qtl.3	-	2	271	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2559	Kringle 1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GATGACCAAGCTTGGCAGGTC	0.463000													23	81					0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580595	580595	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr18:580595G>A	uc002kko.1	+	0	227	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	63	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.E63K(2)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCTGGGCTTCGAACCCAGGAA	0.552000													21	48					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663722	53663722	+	Silent	SNP	A	A	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:53663722A>T	uc001sck.2	+	2	1087	c.996A>T	c.(994-996)ccA>ccT	p.P332P	ESPL1_uc001scj.2_Silent_p.P7P	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	332					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCACCCCCACTTCGGGCAT	0.552000													62	173					0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879309	39879309	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr19:39879309T>C	uc002old.3	-	9	923	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.M240V|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	250					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCATCCATCATGCCCCTG	0.532000													42	174					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56918054	56918054	+	Missense_Mutation	SNP	C	C	T	rs121909382		TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr16:56918054C>T	uc002ekd.4	+	13	1792	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A588V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A587V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	588			A -> V (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACCTGGTGGGCGGCCCTCATC	0.607000													5	210					0	0	1	0	0
NDUFB6	4712	broad.mit.edu	37	9	32571048	32571048	+	Silent	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:32571048G>T	uc003zre.2	-	1	307	c.183C>A	c.(181-183)gtC>gtA	p.V61V	NDUFB6_uc003zrf.2_Silent_p.V61V|NDUFB6_uc022bfg.1_Intron	NM_002493	NP_002484	O95139	NDUB6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa (NDUFB6), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	ATACCCCATGGACCTGGGGGG	0.328000													20	82					2.50493e-22	2.69187e-22	1	1	0
KCNN3	3782	broad.mit.edu	37	1	154680665	154680665	+	Silent	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:154680665C>T	uc021pah.1	-	8	2342	c.2028G>A	c.(2026-2028)tcG>tcA	p.S676S	KCNN3_uc001ffo.3_Silent_p.S356S|KCNN3_uc001ffp.3_Silent_p.S661S	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.	666						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)			GCTCCAGCTTCGACTCCAGGC	0.567000													21	62					0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:130952718A>G	uc011mas.2	-	2	431	c.266T>C	c.(265-267)cTc>cCc	p.L89P	CIZ1_uc004btr.3_Missense_Mutation_p.L59P|CIZ1_uc004bts.3_Missense_Mutation_p.L59P|CIZ1_uc011maq.2_Missense_Mutation_p.L59P|CIZ1_uc004btu.3_Missense_Mutation_p.L59P|CIZ1_uc004btt.3_Missense_Mutation_p.L59P|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.L59P|CIZ1_uc004btv.3_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	59						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582000													7	32					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49259443	49259443	+	Silent	SNP	A	A	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:49259443A>G	uc001rsn.3	-	0	211	c.108T>C	c.(106-108)gaT>gaC	p.D36D		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	36					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						CTGGATAGCAATCCTTCGCTA	0.637000													5	46					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902757	22902757	+	Silent	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr1:22902757G>A	uc001bfx.1	+	2	332	c.207G>A	c.(205-207)acG>acA	p.T69T	EPHA8_uc001bfw.3_Silent_p.T69T	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.T69M(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCACACGTACCAGGTTT	0.607000													36	142					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9572801	9572801	+	RNA	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:9572801C>T	uc021qut.1	-	11		c.2338G>A			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.A751A(2)									ACCTGGAATACGCCAGCAGCA	0.557000													4	23					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1372211	1372211	+	Silent	SNP	T	T	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:1372211T>A	uc001qjb.2	+	13	2740	c.2499T>A	c.(2497-2499)cgT>cgA	p.R833R	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Silent_p.R805R|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Silent_p.R833R|ERC1_uc010sdv.1_Intron|ERC1_uc001qje.2_Non-coding_Transcript	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	833					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAGTCTCCGTAAGAAGGATG	0.423000													7	31					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123333078	123333078	+	Silent	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr3:123333078G>A	uc003ego.3	-	33	5901	c.5619C>T	c.(5617-5619)tgC>tgT	p.C1873C	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.C113C|MYLK_uc003egm.3_Silent_p.C112C|MYLK_uc010hrr.3_Silent_p.C308C|MYLK_uc011bjv.2_Silent_p.C673C|MYLK_uc011bjw.2_Silent_p.C1872C|MYLK_uc003egp.3_Silent_p.C1804C|MYLK_uc003egq.3_Silent_p.C1822C|MYLK_uc003egr.3_Silent_p.C1753C|MYLK_uc003egs.3_Silent_p.C1697C	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1873	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CGTCATCCCCGCAAACATCAC	0.498000													4	107					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166246020	166246020	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:166246020C>T	uc002udc.3	+	26	5994	c.5704C>T	c.(5704-5706)Cgc>Tgc	p.R1902C	SCN2A_uc002udd.3_Missense_Mutation_p.R1902C|SCN2A_uc002ude.3_Missense_Mutation_p.R1902C|SCN2A_uc021vry.1_Missense_Mutation_p.R402C	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1902			R -> T (associated with autism).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CACGTTGAAACGCAAACAAGA	0.433000													33	133					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179473456	179473456	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:179473456A>T	uc021vsy.1	-	222	44803	c.44578T>A	c.(44578-44580)Tgc>Agc	p.C14860S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.C8555S|TTN_uc021vta.1_Missense_Mutation_p.C8488S|TTN_uc021vtb.1_Missense_Mutation_p.C8363S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15787	Fibronectin type-III 7.						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)			GAATATTTGCAATGTCTAAGT	0.398000													22	62					0	0	1	0	0
PKD1L3	342372	broad.mit.edu	37	16	72020134	72020134	+	Missense_Mutation	SNP	T	T	C	rs12708923	by1000genomes	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr16:72020134T>C	uc010vmm.2	-	4	820	c.820A>G	c.(820-822)Aag>Gag	p.K274E		NM_181536	NP_853514			Homo sapiens polycystic kidney disease 1-like 3 (PKD1L3), mRNA.											autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						CCAGATGCCTTCTGCAATGAC	0.468000													4	224					0	0	1	0	0
SNX3	8724	broad.mit.edu	37	6	108533371	108533371	+	Silent	SNP	A	A	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr6:108533371A>C	uc003psh.3	-	3	810	c.471T>G	c.(469-471)tcT>tcG	p.S157S	SNX3_uc003psi.3_Silent_p.S125S|SNX3_uc010kdi.3_Non-coding_Transcript	NM_003795	NP_003786	O60493	SNX3_HUMAN	Homo sapiens sorting nexin 3 (SNX3), transcript variant 1, mRNA.	157					cell communication|endocytosis|protein transport	early endosome|endosome membrane	phosphatidylinositol-3-phosphate binding|protein phosphatase binding			large_intestine(1)	1		all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938)		BRCA - Breast invasive adenocarcinoma(108;0.0136)|Epithelial(106;0.0564)|OV - Ovarian serous cystadenocarcinoma(136;0.0717)|all cancers(137;0.0743)		GTCTTATTTTAGATGGAGTAT	0.373000													16	68					0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176831349	176831349	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr5:176831349T>C	uc003mgo.4	-	8	915	c.866A>G	c.(865-867)tAc>tGc	p.Y289C		NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	289	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGTCGCAGTACTCCCAGCT	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2645529	2645529	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:2645529T>C	uc003sml.1	+	19	1947	c.1763T>C	c.(1762-1764)gTt>gCt	p.V588A	IQCE_uc011jvy.1_Missense_Mutation_p.V572A|IQCE_uc011jvz.1_Missense_Mutation_p.V523A|IQCE_uc003smo.4_Missense_Mutation_p.V588A|IQCE_uc003smk.4_Missense_Mutation_p.V572A|IQCE_uc003smn.4_Missense_Mutation_p.V523A	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	588								p.R587C(1)		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)		GTGCCCCGCGTTCCGAGCCCC	0.697000													6	33					0	0	1	0	0
MAGEB2	4113	broad.mit.edu	37	X	30237276	30237276	+	Silent	SNP	C	C	G			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chrX:30237276C>G	uc022buf.1	+	0	579	c.579C>G	c.(577-579)ctC>ctG	p.L193L	MAGEB2_uc004dbz.3_Silent_p.L193L	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	193	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AATCCCTGCTCAGTTCCTGGG	0.493000													15	52					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003429	170003429	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:170003429C>T	uc002ues.3	-	68	12844	c.12631G>A	c.(12631-12633)Gag>Aag	p.E4211K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4211					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGGCAGACTCGATTTTAGGT	0.458000													31	119					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964729	91964729	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:91964729G>A	uc004aqj.1	+	12	1857	c.1777G>A	c.(1777-1779)Gtt>Att	p.V593I	SECISBP2_uc010mqo.1_Missense_Mutation_p.V298I|SECISBP2_uc004aqk.1_Missense_Mutation_p.V520I|SECISBP2_uc011ltk.1_Missense_Mutation_p.V592I|SECISBP2_uc011ltl.1_Missense_Mutation_p.V525I	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	593					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CACTCCTTCGGTTGAGGACAA	0.562000													25	123					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													3	38					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38781879	38781879	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr6:38781879G>A	uc021yzh.1	+	24	3416	c.3307G>A	c.(3307-3309)Gaa>Aaa	p.E1103K	DNAH8_uc003ooe.2_Missense_Mutation_p.E886K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATAAAAAGTGAAGTACATCT	0.323000													3	84					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131073210	131073210	+	Missense_Mutation	SNP	G	G	C	rs2231637	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr9:131073210G>C	uc004buq.1	-	6	636	c.626C>G	c.(625-627)aCt>aGt	p.T209S		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	209			T -> S (in dbSNP:rs2231637).		pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						TCGGATGCCAGTTATCAGCAT	0.557000													3	116					0	0	1	0	0
TTI2	80185	broad.mit.edu	37	8	33369822	33369822	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr8:33369822C>T	uc003xjl.4	-	0	835	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TTI2_uc003xjm.4_Missense_Mutation_p.D104N|TTI2_uc003xjn.1_Missense_Mutation_p.D104N	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	Homo sapiens TELO2 interacting protein 2 (TTI2), transcript variant 2, mRNA.	104							binding										GAGTGCCCATCACCTCCACCT	0.577000													3	73					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51757995	51757995	+	Missense_Mutation	SNP	C	C	G	rs138580901	byFrequency	TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:51757995C>G	uc001ryk.2	-	4	1184	c.959G>C	c.(958-960)cGa>cCa	p.R320P	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R320P	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	320					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAAGTTGCCTCGGCTATGGAC	0.552000													43	144					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72412500	72412500	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:72412500A>C	uc003twk.2	+	10	1968	c.1968A>C	c.(1966-1968)aaA>aaC	p.K656N	POM121_uc003twj.3_Missense_Mutation_p.K391N|POM121_uc010lam.1_Missense_Mutation_p.K391N	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	656	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTGACTCCAAACCCCCGACCA	0.622000													3	126					0	0	1	0	0
WDFY4	57705	broad.mit.edu	37	10	49998834	49998834	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr10:49998834A>C	uc001jha.4	+	22	4206	c.4129A>C	c.(4129-4131)Atc>Ctc	p.I1377L		NM_020945	NP_065996	Q6ZS81	WDFY4_HUMAN	Homo sapiens WDFY family member 4 (WDFY4), mRNA.	1377						integral to membrane	binding			NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CGGGCCTGCCATCCTCCTGGG	0.547000													8	171					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75050987	75050987	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:75050987C>A	uc003udk.4	-	12	3433	c.2548G>T	c.(2548-2550)Ggg>Tgg	p.G850W		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1092	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						ACGTTGATCCCAAAGCTCCCA	0.652000													14	79					5.26018e-13	5.5696e-13	1	1	0
KIAA0146	23514	broad.mit.edu	37	8	48626065	48626065	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr8:48626065G>A	uc003xqd.3	+	15	2265	c.2203G>A	c.(2203-2205)Gct>Act	p.A735T	KIAA0146_uc011ldc.2_Missense_Mutation_p.A665T|KIAA0146_uc011ldd.2_Missense_Mutation_p.A675T|KIAA0146_uc003xqe.3_Missense_Mutation_p.A210T|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc010lxt.3_Missense_Mutation_p.A424T|KIAA0146_uc011ldf.2_Missense_Mutation_p.A240T|KIAA0146_uc011ldg.2_Missense_Mutation_p.A225T|KIAA0146_uc003xqg.1_Non-coding_Transcript	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	735										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				GATTGTTTGTGCTGAACGAAC	0.522000													3	108					0	0	1	0	0
NSUN3	63899	broad.mit.edu	37	3	93845254	93845254	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr3:93845254G>T	uc003drl.1	+	5	1059	c.943G>T	c.(943-945)Gtg>Ttg	p.V315L		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	315							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TGGGCTCTTAGTGATTCCAGA	0.463000													17	111					6.94344e-10	7.24533e-10	1	1	0
C12orf51	283450	broad.mit.edu	37	12	112605266	112605266	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr12:112605266C>T	uc021reb.1	-	71	12383	c.11987G>A	c.(11986-11988)gGg>gAg	p.G3996E		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AATTGCAATCCCCAGCAGCTG	0.647000													19	58					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	109003803	109003804	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr2:109003803_109003804insCA	uc002tea.1	+	6	1197_1198	c.824_825insCA	c.(823-825)ttcfs	p.F275fs	SULT1C4_uc002teb.1_Frame_Shift_Ins_p.F200fs	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	275					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						AAGAAACACTTCACCGTGGCTC	0.431													25	98	---	---	---	---					
C7orf26	79034	broad.mit.edu	37	7	6630101	6630101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr7:6630101delC	uc003sqo.1	+	0	187	c.187delC	c.(187-189)cccfs	p.P63fs	DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Frame_Shift_Del_p.P63fs	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	63										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CAGCGCGCAGCCCAAGGTGCG	0.736													2	4	---	---	---	---					
PGR	5241	broad.mit.edu	37	11	100999350	100999350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47O-01A-11D-A25F-10	TCGA-B1-A47O-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2b9fe2-97e0-4d4f-afd7-a5acf638800f	c023a62c-e498-4e1e-be91-99cf6d7b0708	g.chr11:100999350delG	uc001pgh.2	-	0	1195	c.452delC	c.(451-453)ccafs	p.P151fs	PGR_uc001pgi.2_Frame_Shift_Del_p.P151fs|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	151	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGCAGCCGGTGGATCTTCGGG	0.682													2	4	---	---	---	---					
