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
MYOCD	93649	broad.mit.edu	37	17	12656636	12656636	+	Silent	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:12656636C>A	uc002gno.2	+	9	2330	c.2031C>A	c.(2029-2031)ccC>ccA	p.P677P	MYOCD_uc002gnn.2_Silent_p.P677P|MYOCD_uc002gnp.1_Silent_p.P581P|MYOCD_uc002gnq.2_Silent_p.P396P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	647					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)		TCTCCTCGCCCATCAGCAGCC	0.562000														38			5		0.000602214	0.00126166	0.000602	1	0
MYT1L	23040	broad.mit.edu	37	2	1805528	1805528	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:1805528G>A	uc002qxe.3	-	22	4043	c.3216C>T	c.(3214-3216)atC>atT	p.I1072I	MYT1L_uc002qxd.3_Silent_p.I1070I|MYT1L_uc010ewk.3_Silent_p.I68I	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1072					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTAGCTCCTTGATTTCTTCAT	0.313000														110			11		0	0	0.001855	0	0
KCNB1	3745	broad.mit.edu	37	20	47990562	47990562	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:47990562G>A	uc002xur.1	-	1	1701	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L	KCNB1_uc002xus.1_Missense_Mutation_p.P512L	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	512					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.P512T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCTTTTTCAGGGGATCCCTG	0.463000														117			11		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179647623	179647623	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179647623C>T	uc021vsy.1	-	17	3235	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	TTN_uc021vsz.1_Missense_Mutation_p.E958K|TTN_uc021vta.1_Missense_Mutation_p.E958K|TTN_uc021vtb.1_Missense_Mutation_p.E958K|TTN_uc002unb.2_Missense_Mutation_p.E1004K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1004	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAATGCTTCGCGAATCATA	0.502000														26			4		0	0	0.000248	0	0
KIF5A	3798	broad.mit.edu	37	12	57966430	57966430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:57966430G>A	uc001sor.1	+	14	1845	c.1637G>A	c.(1636-1638)cGa>cAa	p.R546Q	KIF5A_uc010srr.1_Missense_Mutation_p.R457Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	546					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAGCGAAAACGAATTGCTGAG	0.572000														57			7		0	0	0.004482	0	0
ZNF683	257101	broad.mit.edu	37	1	26694970	26694970	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:26694970G>A	uc001bmg.1	-	1	211	c.93C>T	c.(91-93)ttC>ttT	p.F31F	ZNF683_uc001bmh.1_Silent_p.F31F|ZNF683_uc009vsj.1_Silent_p.F31F	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGAAGAGCTGGAAGTCCAGGC	0.537000														36			5		0	0	0.001168	0	0
SHROOM2	357	broad.mit.edu	37	X	9863144	9863144	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:9863144C>T	uc004csu.1	+	3	1286	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	399					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P398S(1)|p.P398L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGCTGGCCGCCCTCCAAGGAT	0.672000														10			3		0	0	0.004672	0	0
CD34	947	broad.mit.edu	37	1	208062063	208062063	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:208062063C>T	uc001hgw.1	-	6	1194	c.936G>A	c.(934-936)atG>atA	p.M312I	CD34_uc001hgv.1_Missense_Mutation_p.M154I|CD34_uc001hgx.1_Missense_Mutation_p.M312I|CD34_uc010psj.1_Missense_Mutation_p.M177I	NM_001025109	NP_001020280	P28906	CD34_HUMAN	Homo sapiens CD34 molecule (CD34), transcript variant 1, mRNA.	312					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						TGCGGCGATTCATCAGGAAAT	0.557000														121			10		0	0	0.000978	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366766	69366766	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:69366766C>T	uc009xpn.1	-	2	264	c.141G>A	c.(139-141)agG>agA	p.R47R	CTNNA3_uc001jmw.2_Silent_p.R47R|CTNNA3_uc001jmx.4_Silent_p.R47R|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Silent_p.R59R	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	47					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCCTTTTTTCCTGCTGGAAG	0.418000														37			4		0	0	0.000248	0	0
BTBD7	55727	broad.mit.edu	37	14	93709119	93709119	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:93709119G>A	uc001ybo.3	-	10	3225	c.2899C>T	c.(2899-2901)Cct>Tct	p.P967S	BTBD7_uc010aur.3_Missense_Mutation_p.P492S|BTBD7_uc010two.2_Missense_Mutation_p.P787S|BTBD7_uc001ybp.3_Missense_Mutation_p.P616S	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	967										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CCTTGCGAAGGGGAAGGGGTG	0.493000														65			6		0	0	0.001984	0	0
AKAP9	10142	broad.mit.edu	37	7	91631574	91631574	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:91631574A>G	uc003ulg.3	+	7	2568	c.2343A>G	c.(2341-2343)aaA>aaG	p.K781K	AKAP9_uc003ule.2_Silent_p.K793K|AKAP9_uc003ulf.3_Silent_p.K781K|AKAP9_uc003uli.3_Silent_p.K406K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	793	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATTCTTAAAGATGAAAAGA	0.313000			T	BRAF	papillary thyroid									101			7		0	0	0.004482	0	0
OR2W5	441932	broad.mit.edu	37	1	247654686	247654686	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:247654686G>A	uc001icz.2	+	0	317	c.257G>A	c.(256-258)gGg>gAg	p.G86E		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G86W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGAACCTGGGGGGTCCAGAG	0.542000														27			5		0	0	0.000602	0	0
SCN5A	6331	broad.mit.edu	37	3	38607966	38607966	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:38607966C>T	uc021wvo.1	-	19	3826	c.3774G>A	c.(3772-3774)tgG>tgA	p.W1258*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1257*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W1204*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1258*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1257*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1258*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W1257*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W1258*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W1258*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W1257*|SCN5A_uc021wvu.1_Nonsense_Mutation_p.W1204*|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W1258*|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W1070*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W1124*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W868*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1258					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)	CGTAGGCCACCCACTTGAGCA	0.532000														43			4		0	0	0.000248	0	0
PDZD2	23037	broad.mit.edu	37	5	32090175	32090176	+	Missense_Mutation	DNP	GG	AA	AA	rs138558075		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32090175_32090176GG>AA	uc003jhl.3	+	19	7009_7010	c.6621_6622GG>AA	c.(6619-6624)tcgggg>tcAAgg	p.G2208R	PDZD2_uc003jhm.3_Missense_Mutation_p.G2208R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2208					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.S2207S(2)|p.G2208V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGCCCCTCGGGGGAGGACCA	0.579000														101			10		0	0	0.004672	0	0
FAM47A	158724	broad.mit.edu	37	X	34149886	34149886	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34149886C>T	uc004ddg.3	-	0	562	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	170										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTTGTCTTCTCCTGGGTCT	0.567000														27			5		0	0	0.000602	0	0
FAM113B	91523	broad.mit.edu	37	12	47629331	47629331	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:47629331G>A	uc001rpq.3	+	1	1010	c.485G>A	c.(484-486)tGg>tAg	p.W162*	FAM113B_uc001rpn.3_Nonsense_Mutation_p.W162*|FAM113B_uc021qxi.1_Nonsense_Mutation_p.W162*	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	162							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					CTCCTGGTGTGGAACACGGCC	0.602000														34			7		0	0	0.003080	0	0
PLCB4	5332	broad.mit.edu	37	20	9449219	9449219	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9449219G>A	uc021wam.1	+	32	3228	c.3213_splice	c.e32-1	p.R1071_splice	PLCB4_uc010gbx.3_Splice_Site_p.R1083_splice|PLCB4_uc021wal.1_Splice_Site_p.R1071_splice|PLCB4_uc002wnh.3_Splice_Site_p.R918_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1071					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATACATAGGGAAAGCAAGGA	0.403000														61			7		0	0	0.003080	0	0
STAU1	6780	broad.mit.edu	37	20	47770587	47770587	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:47770587T>C	uc002xud.3	-	3	638	c.227A>G	c.(226-228)gAa>gGa	p.E76G	STAU1_uc002xua.3_5'UTR|STAU1_uc002xub.3_5'UTR|STAU1_uc002xuc.3_5'UTR|STAU1_uc002xue.3_5'UTR|STAU1_uc002xuf.3_5'UTR|STAU1_uc002xug.3_Missense_Mutation_p.E76G	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	76	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.V75V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGCATTTAGTTCTACAGTAGG	0.373000														64			7		0	0	0.004482	0	0
OR51I1	390063	broad.mit.edu	37	11	5461909	5461909	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:5461909G>A	uc010qze.2	-	0	875	c.836C>T	c.(835-837)tCc>tTc	p.S279F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGACATTGGACATCATGAC	0.458000														28			4		0	0	0.000602	0	0
HARS2	23438	broad.mit.edu	37	5	140076573	140076574	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140076573_140076574CC>TT	uc003lgx.3	+	8	1088_1089	c.872_873CC>TT	c.(871-873)tcc>tTT	p.S291F	HARS2_uc011czr.2_Missense_Mutation_p.S266F|HARS2_uc011czs.2_Missense_Mutation_p.S147F|HARS2_uc011czt.2_Missense_Mutation_p.S119F|HARS2_uc011czu.2_Missense_Mutation_p.S117F	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	291					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACTATCCCAGAACAAGC	0.431000														116			11		0	0	0.004672	0	0
GPR111	222611	broad.mit.edu	37	6	47649918	47649918	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649918C>T	uc010jzj.1	+	5	1624	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	GPR111_uc003oyy.3_Silent_p.L473L	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	541					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCAAGGCACTCCTTATCCTCT	0.448000														33			7		0	0	0.001984	0	0
FBXO18	84893	broad.mit.edu	37	10	5948022	5948022	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:5948022C>T	uc001iit.3	+	3	437	c.333C>T	c.(331-333)atC>atT	p.I111I	FBXO18_uc001iir.3_5'UTR|FBXO18_uc001iis.3_Silent_p.I60I|FBXO18_uc009xig.3_5'UTR	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	60					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAAGATGCATCCCTGAGTTCT	0.488000														35			4		0	0	0.000602	0	0
P2RX1	5023	broad.mit.edu	37	17	3806913	3806913	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:3806913G>A	uc002fww.3	-	5	978	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	179					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CGGCCTCTCGGAGAAGGGCAG	0.607000														23			5		0	0	0.000602	0	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20043949C>T	uc002dgu.1	-	1	332	c.170G>A	c.(169-171)aGa>aAa	p.R57K	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	57						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CTTCTGTCTTCTTGCCACCAG	0.463000														38			5		0	0	0.001168	0	0
GFRA1	2674	broad.mit.edu	37	10	117849293	117849293	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:117849293C>T	uc001lcj.3	-	8	1854	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	GFRA1_uc001lci.3_Missense_Mutation_p.E381K|GFRA1_uc009xyr.3_Missense_Mutation_p.E381K	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	386					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGGAATTTCATTCTCAGAC	0.577000														41			8		0	0	0.004482	0	0
KLC4	89953	broad.mit.edu	37	6	43034129	43034129	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43034129C>T	uc003otw.1	+	4	1030	c.711C>T	c.(709-711)atC>atT	p.I237I	KLC4_uc003otr.1_Non-coding_Transcript|KLC4_uc003otu.3_Silent_p.I219I|KLC4_uc003otv.1_Silent_p.I219I|KLC4_uc011dvd.1_Silent_p.I142I|KLC4_uc003otx.1_Silent_p.I219I|KLC4_uc003oty.1_Silent_p.I219I|KLC4_uc003otz.1_Silent_p.I219I	NM_201523	NP_958930	Q9NSK0	KLC4_HUMAN	Homo sapiens kinesin light chain 4 (KLC4), transcript variant 3, mRNA.	219						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			ACCTGGTGATCCAGTACGCAG	0.587000														36			5		0	0	0.000602	0	0
COL4A4	1286	broad.mit.edu	37	2	227946859	227946859	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:227946859C>T	uc021vxr.1	-	21	1769	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	COL4A4_uc021vxs.1_Silent_p.K556K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	556	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCATGTCACCCTTCGCCCCTT	0.413000														95			7		0	0	0.004482	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21940145	21940145	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:21940145G>A	uc001bev.3	-	5	468	c.450C>T	c.(448-450)ttC>ttT	p.F150F	RAP1GAP_uc001bew.3_Silent_p.F214F|RAP1GAP_uc001bey.3_Silent_p.F150F|RAP1GAP_uc001bex.3_Silent_p.F150F	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	150					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CAACATTAGGGAACTCGGTGA	0.597000														60			5		0	0	0.001984	0	0
DMBT1	1755	broad.mit.edu	37	10	124358479	124358479	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124358479G>A	uc001lgk.1	+	25	3252	c.3146G>A	c.(3145-3147)gGt>gAt	p.G1049D	DMBT1_uc001lgl.1_Missense_Mutation_p.G1039D|DMBT1_uc001lgm.1_Missense_Mutation_p.G550D|DMBT1_uc021qaf.1_Missense_Mutation_p.G1049D|DMBT1_uc021qag.1_Missense_Mutation_p.G1039D|DMBT1_uc021qah.1_Missense_Mutation_p.G550D|DMBT1_uc009xzz.1_Missense_Mutation_p.G1049D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G10D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1049	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCCGGTTTGGTCAGGGCTCA	0.597000														65			7		0	0	0.001984	0	0
AFF2	2334	broad.mit.edu	37	X	148037322	148037322	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:148037322C>T	uc004fcp.3	+	10	2226	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	AFF2_uc004fcq.3_Missense_Mutation_p.P573S|AFF2_uc004fcr.3_Missense_Mutation_p.P544S|AFF2_uc011mxb.2_Missense_Mutation_p.P548S|AFF2_uc004fcs.3_Missense_Mutation_p.P550S|AFF2_uc011mxc.2_Missense_Mutation_p.P224S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	583					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCTGAACCCAAAGAAAG	0.483000														105			7		0	0	0.003080	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81070838	81070838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:81070838C>T	uc001kaf.2	+	23	3565	c.2993C>T	c.(2992-2994)cCc>cTc	p.P998L	ZMIZ1_uc001kag.2_Missense_Mutation_p.P874L|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	998	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGGCCGCTCCCAGCAGCCAT	0.667000														52			6		0	0	0.000978	0	0
PPM1E	22843	broad.mit.edu	37	17	57058163	57058163	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:57058163G>A	uc002iwx.3	+	6	2166	c.2039G>A	c.(2038-2040)aGa>aAa	p.R680K	PPM1E_uc010ddd.3_Missense_Mutation_p.R443K	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	689					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTGGCACAGATTCAGGTTT	0.438000														56			6		0	0	0.001168	0	0
GP2	2813	broad.mit.edu	37	16	20331078	20331078	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20331078G>A	uc002dgv.3	-	6	963	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	GP2_uc002dgw.3_Missense_Mutation_p.H291Y|GP2_uc002dgx.3_Missense_Mutation_p.H147Y|GP2_uc002dgy.3_Missense_Mutation_p.H144Y	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	294	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TAGATGGCATGGGTTTGATTT	0.393000														73			6		0	0	0.001984	0	0
NLRP4	147945	broad.mit.edu	37	19	56363680	56363680	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56363680G>A	uc002qmd.4	+	1	656	c.234G>A	c.(232-234)aaG>aaA	p.K78K		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	78	DAPIN.						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)		TCTTTCAAAAGATGGATAGAA	0.433000														63			7		0	0	0.001984	0	0
DNAH5	1767	broad.mit.edu	37	5	13786434	13786434	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13786434C>T	uc003jfd.2	-	51	8716	c.8674G>A	c.(8674-8676)Gaa>Aaa	p.E2892K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2892					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTAGGTGTTTCAGCATCAGCC	0.388000									Kartagener syndrome					30			5		0	0	0.001168	0	0
GARNL3	84253	broad.mit.edu	37	9	130075766	130075766	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:130075766C>T	uc011mae.2	+	3	767	c.366C>T	c.(364-366)ttC>ttT	p.F122F	GARNL3_uc011mad.2_Silent_p.F100F	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	122					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCCCTTTCTTCTTGTCCGTGA	0.443000														48			6		0	0	0.001984	0	0
ST18	9705	broad.mit.edu	37	8	53076622	53076622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:53076622C>T	uc003xqz.2	-	7	1480	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	ST18_uc011ldq.1_Missense_Mutation_p.E89K|ST18_uc011ldr.1_Missense_Mutation_p.E407K|ST18_uc011lds.1_Missense_Mutation_p.E347K|ST18_uc003xra.2_Missense_Mutation_p.E442K|ST18_uc003xrb.2_Missense_Mutation_p.E442K	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	442						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A441D(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCAATTTTTCAGCTGCAGCA	0.418000														55			7		0	0	0.003080	0	0
MYO18B	84700	broad.mit.edu	37	22	26239721	26239721	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:26239721C>T	uc003abz.1	+	17	3478	c.3228C>T	c.(3226-3228)acC>acT	p.T1076T	MYO18B_uc003aca.1_Silent_p.T957T|MYO18B_uc010guy.1_Silent_p.T958T|MYO18B_uc010guz.1_Silent_p.T957T|MYO18B_uc011aka.1_Silent_p.T230T|MYO18B_uc011akb.1_Silent_p.T589T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1076	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCTGCGGACCTGTGAGCAGC	0.592000														37			4		0	0	0.000602	0	0
ENAM	10117	broad.mit.edu	37	4	71508794	71508794	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:71508794G>A	uc011caw.1	+	8	1932	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	551					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATACCCTGAGGAAATCCCTTC	0.428000														83			7		0	0	0.000443	0	0
LIPA	3988	broad.mit.edu	37	10	90983485	90983485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:90983485G>A	uc001kgc.4	-	5	1074	c.784C>T	c.(784-786)Ctc>Ttc	p.L262F	LIPA_uc001kgb.4_Missense_Mutation_p.L204F|LIPA_uc010qnf.2_Missense_Mutation_p.L65F|LIPA_uc001kga.4_Missense_Mutation_p.L260F|LIPA_uc009xtq.3_Missense_Mutation_p.L260F|LIPA_uc009xtr.1_Non-coding_Transcript	NM_001127605	NP_001121077	P38571	LICH_HUMAN	Homo sapiens lipase A, lysosomal acid, cholesterol esterase (LIPA), transcript variant 1, mRNA.	260					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		AGAAAACAGAGATTTCCACAG	0.353000														73			10		0	0	0.000673	0	0
IDO1	3620	broad.mit.edu	37	8	39780096	39780096	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:39780096C>T	uc003xnm.3	+	5	577	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	155					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.R155C(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GTTCTCATTTCGTGATGGAGA	0.368000														40			7		0	0	0.000443	0	0
MMP3	4314	broad.mit.edu	37	11	102709325	102709325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:102709325C>T	uc001phj.1	-	7	1251	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	396	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TTGTTCTTTTCCTTATCAGAA	0.413000														31			5		0	0	0.001168	0	0
GMIP	51291	broad.mit.edu	37	19	19745511	19745511	+	Splice_Site	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:19745511A>C	uc002nnd.3	-	18	2005	c.1888_splice	c.e18-1	p.L630_splice	GMIP_uc010xrb.2_Splice_Site_p.L604_splice|GMIP_uc010xrc.2_Splice_Site_p.L601_splice	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	630	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGGCTCGGTGAGCTGGGGGTG	0.657000														71			6		0	0	0.003080	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515816	140515816	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140515816G>A	uc003liq.3	+	0	1017	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	267	Cadherin 3.				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)			GTCTCCGCTCGAGATTTAGAT	0.438000														96			13		0	0	0.001855	0	0
SYCP2L	221711	broad.mit.edu	37	6	10926589	10926589	+	Silent	SNP	G	A	A	rs147164289		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:10926589G>A	uc003mzo.3	+	15	1532	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	SYCP2L_uc011din.1_Silent_p.T253T|SYCP2L_uc010jow.3_Silent_p.T32T	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	412						nucleus		p.T412T(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CTGACCAGACGAAAATCTCCT	0.348000														112			12		0	0	0.002450	0	0
DPYD	1806	broad.mit.edu	37	1	98164917	98164917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:98164917C>T	uc001drv.3	-	5	807	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	DPYD_uc010oub.1_Non-coding_Transcript	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	224					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTAAACCACCAACATATTCT	0.353000														34			4		0	0	0.000602	0	0
ZNF777	27153	broad.mit.edu	37	7	149133841	149133841	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:149133841G>A	uc003wfv.3	-	4	1327	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	388	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTCCCATCAGGGGCTCAGGTG	0.597000														35			4		0	0	0.000248	0	0
CDH17	1015	broad.mit.edu	37	8	95143179	95143179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95143179C>T	uc003ygh.2	-	15	2334	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	CDH17_uc011lgo.1_Missense_Mutation_p.E523K|CDH17_uc011lgp.1_Missense_Mutation_p.E737K	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	737	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TACTCCCTCTCCTCAAACTCT	0.473000														28			5		0	0	0.000602	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106117028	106117028	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:106117028C>T	uc004emo.3	+	20	3361	c.3196C>T	c.(3196-3198)Cct>Tct	p.P1066S	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	1066						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAGAAAGATCCTTGTTCCTT	0.458000														66			9		0	0	0.000443	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:19077810C>T	uc001mph.3	-	1	228	c.140G>A	c.(139-141)gGa>gAa	p.G47E	MRGPRX2_uc021qer.1_Missense_Mutation_p.G47E	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	47					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAACCCGTTTCCTACCAGCCC	0.582000														60			7		0	0	0.001984	0	0
LAMA5	3911	broad.mit.edu	37	20	60892524	60892524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:60892524C>T	uc002ycq.3	-	54	7455	c.7388G>A	c.(7387-7389)gGg>gAg	p.G2463E	LAMA5_uc021wfw.1_Missense_Mutation_p.G2463E	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2463	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCGAGCCCCATCCAGGCT	0.682000														13			3		0	0	0.000248	0	0
CSMD2	114784	broad.mit.edu	37	1	34049279	34049279	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34049279G>A	uc001bxm.1	-	46	7380	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L	CSMD2_uc001bxn.1_Silent_p.L2403L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2403	CUB 14.					integral to membrane|plasma membrane	protein binding	p.L2403L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTTCTCGCTGAGGAAGTACT	0.507000														80			7		0	0	0.003080	0	0
RASSF9	9182	broad.mit.edu	37	12	86199395	86199395	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:86199395G>A	uc001taf.1	-	1	732	c.393C>T	c.(391-393)gcC>gcT	p.A131A		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	131					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCACTAATTTGGCTTCAGCTG	0.418000														128			7		0	0	0.001984	0	0
DIRAS2	54769	broad.mit.edu	37	9	93376091	93376091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:93376091C>T	uc022bjs.1	-	0	19	c.19G>A	c.(19-21)Gat>Aat	p.D7N	DIRAS2_uc004aqx.1_Missense_Mutation_p.D7N	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	7					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACCCGGTAATCGTTACTCTGC	0.507000														52			9		0	0	0.000978	0	0
MOXD1	26002	broad.mit.edu	37	6	132645130	132645130	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:132645130G>A	uc003qdf.3	-	6	1152	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	MOXD1_uc003qde.3_Silent_p.I283I	NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	351					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCCCTGGAGGGATGGTATGGA	0.493000														24			5		0	0	0.000602	0	0
LYPD4	147719	broad.mit.edu	37	19	42342269	42342269	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:42342269G>A	uc002orp.1	-	3	1262	c.278C>T	c.(277-279)tCc>tTc	p.S93F	LYPD4_uc002orq.1_Missense_Mutation_p.S58F	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	93						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACAAGGTAGGAGATTTGCGC	0.532000														42			5		0	0	0.000602	0	0
CPAMD8	27151	broad.mit.edu	37	19	17007076	17007076	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:17007076C>T	uc002nfb.3	-	40	5510	c.5478G>A	c.(5476-5478)ccG>ccA	p.P1826P	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Silent_p.P291P	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1779						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						GTAAAGGCCCCGGGGCCACAG	0.677000														13			4		0	0	0.000602	0	0
MKX	283078	broad.mit.edu	37	10	27964465	27964465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:27964465G>A	uc001ity.4	-	5	1082	c.857C>T	c.(856-858)tCc>tTc	p.S286F	MKX_uc001itx.4_Missense_Mutation_p.S286F	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	286					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ACCCTTATTGGATCCGTTTTC	0.378000														26			5		0	0	0.000602	0	0
ASCC3	10973	broad.mit.edu	37	6	100957956	100957956	+	Missense_Mutation	SNP	G	A	A	rs141591240		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:100957956G>A	uc003pqk.3	-	40	6642	c.6313C>T	c.(6313-6315)Cct>Tct	p.P2105S		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	2105	SEC63 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGAAATCGAGGAGTAACTGCA	0.363000														157			13		0	0	0.003163	0	0
EPHA6	285220	broad.mit.edu	37	3	96706605	96706605	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:96706605C>T	uc010how.1	+	2	925	c.882C>T	c.(880-882)gtC>gtT	p.V294V	EPHA6_uc003drp.1_Silent_p.V294V	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	199						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGGTTTCAGTCCGTGTTTTCT	0.458000														98			11		0	0	0.001368	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643895	37643895	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:37643895G>A	uc002ofo.1	-	4	1137	c.906C>T	c.(904-906)aaC>aaT	p.N302N	ZNF585A_uc002ofm.1_Silent_p.N247N|ZNF585A_uc002ofn.1_Silent_p.N247N	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTGCCACAGTTACTGCACT	0.428000														114			7		0	0	0.003080	0	0
ZNF558	148156	broad.mit.edu	37	19	8922407	8922407	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8922407G>A	uc002mkn.1	-	5	989	c.759C>T	c.(757-759)agC>agT	p.S253S	ZNF558_uc010xkh.1_Silent_p.S182S|ZNF558_uc010dwg.1_Silent_p.S253S	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCCTCTTGTGGCTTTTGAGGT	0.443000														41			6		0	0	0.001984	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417986	150417986	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150417986G>A	uc003whq.3	+	2	1034	c.894G>A	c.(892-894)gaG>gaA	p.E298E	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGTGGTCGGAGGCCGTTGCGG	0.627000														18			5		0	0	0.001168	0	0
MCM4	4173	broad.mit.edu	37	8	48878868	48878868	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:48878868C>T	uc003xqk.2	+	8	1780	c.954C>T	c.(952-954)gaC>gaT	p.D318D	MCM4_uc003xql.2_Silent_p.D318D|MCM4_uc011ldi.2_Silent_p.D305D	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	318					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				TGGAGATGGACCGCGGCCGCA	0.622000														17			6		0	0	0.001168	0	0
AVPR1B	553	broad.mit.edu	37	1	206224959	206224959	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:206224959C>T	uc001hds.2	+	0	677	c.519C>T	c.(517-519)tcC>tcT	p.S173S		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	173					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCATTTTTTCCCTGCGGGAGG	0.647000														43			7		0	0	0.004482	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42861441	42861441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:42861441C>T	uc010gor.3	-	3	490	c.429G>A	c.(427-429)tgG>tgA	p.W143*	TMPRSS2_uc002yzj.3_Nonsense_Mutation_p.W106*|TMPRSS2_uc010gos.1_Nonsense_Mutation_p.W106*	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	106	LDL-receptor class A.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TACTGAACTTCCAGAGTAGGC	0.592000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									24			4		0	0	0.000602	0	0
CEP350	9857	broad.mit.edu	37	1	179989416	179989416	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:179989416C>T	uc001gnt.3	+	11	2890	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	CEP350_uc009wxl.2_Missense_Mutation_p.S835F|CEP350_uc001gnu.3_Missense_Mutation_p.S670F	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	836						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GCTTCTTTGTCCAGCAGAATT	0.448000														129			12		0	0	0.000978	0	0
CTNND2	1501	broad.mit.edu	37	5	11732292	11732292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:11732292C>T	uc003jfa.1	-	1	275	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	44					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCTGTTTCAGAGCCATCC	0.488000														37			5		0	0	0.000602	0	0
TRIM31	11074	broad.mit.edu	37	6	30075913	30075913	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:30075913G>A	uc003npg.1	-	5	910	c.800C>T	c.(799-801)cCt>cTt	p.P267L	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	267						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CAGAGGAACAGGGGTTGGGTT	0.458000														36			4		0	0	0.000248	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798551	57798551	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:57798551G>A	uc010rjz.2	+	0	127	c.127G>A	c.(127-129)Gag>Aag	p.E43K	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCTTGGTGGAGAATTTGGC	0.478000														91			6		0	0	0.001168	0	0
POTEA	340441	broad.mit.edu	37	8	43173695	43173695	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:43173695G>A	uc003xpz.1	+	8	1160	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I	POTEA_uc003xqa.1_Missense_Mutation_p.V327I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	373										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGTGGATTAGTTCCACAAAG	0.408000														29			5		0	0	0.001168	0	0
CCDC19	25790	broad.mit.edu	37	1	159857657	159857657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159857657C>T	uc001fui.3	-	4	580	c.562G>A	c.(562-564)Gag>Aag	p.E188K	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.E103K|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.E188K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	188						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			AGCTCCTCCTCCTGCTCCATC	0.597000														67			9		0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61832672	61832672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61832672C>T	uc001jky.3	-	36	8305	c.7967G>A	c.(7966-7968)gGa>gAa	p.G2656E	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2656					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAGCCTTGTCCATCAGGGCC	0.557000														27			4		0	0	0.000248	0	0
LBP	3929	broad.mit.edu	37	20	36974948	36974948	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:36974948C>T	uc002xic.1	+	0	64	c.29C>T	c.(28-30)tCc>tTc	p.S10F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	10					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCCCTGCCGTCCATACTGCTG	0.617000														26			5		0	0	0.001984	0	0
NRG1	3084	broad.mit.edu	37	8	32621337	32621337	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:32621337C>T	uc003xiv.2	+	11	1857	c.1340C>T	c.(1339-1341)tCg>tTg	p.S447L	NRG1_uc022ats.1_Missense_Mutation_p.S397L|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.S452L|NRG1_uc003xiw.2_Missense_Mutation_p.S444L|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.S189L|NRG1_uc010lvs.2_Missense_Mutation_p.S189L|NRG1_uc010lvp.2_Missense_Mutation_p.S401L|NRG1_uc010lvq.2_Missense_Mutation_p.S377L|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.S290L|NRG1_uc003xja.2_Missense_Mutation_p.S258L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	447					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCCCCCAAATCGCCCCCTTCG	0.557000														32			6		0	0	0.001168	0	0
UNC5D	137970	broad.mit.edu	37	8	35579780	35579780	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:35579780C>T	uc003xjr.2	+	8	1498	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V	UNC5D_uc003xjs.2_Silent_p.V385V|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Silent_p.V148V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	390					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCTGCCGTCGTGGCCGTTG	0.527000														102			7		0	0	0.003080	0	0
AFF2	2334	broad.mit.edu	37	X	148038102	148038102	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:148038102G>A	uc004fcp.3	+	10	3006	c.2527G>A	c.(2527-2529)Gct>Act	p.A843T	AFF2_uc004fcq.3_Missense_Mutation_p.A833T|AFF2_uc004fcr.3_Missense_Mutation_p.A804T|AFF2_uc011mxb.2_Missense_Mutation_p.A808T|AFF2_uc004fcs.3_Missense_Mutation_p.A810T|AFF2_uc011mxc.2_Missense_Mutation_p.A484T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	843					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTCACAGCTGTGGAGAA	0.532000														32			5		0	0	0.000602	0	0
SPEN	23013	broad.mit.edu	37	1	16255609	16255609	+	Silent	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:16255609T>C	uc001axk.1	+	10	3078	c.2874T>C	c.(2872-2874)ctT>ctC	p.L958L	SPEN_uc010obp.1_Silent_p.L917L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	958					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.L958F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCAGGCTTAAAGCCAGGA	0.488000														70			6		0	0	0.001984	0	0
RBBP7	5931	broad.mit.edu	37	X	16870694	16870694	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:16870694G>A	uc004cxt.3	-	7	1301	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	RBBP7_uc004cxs.2_Missense_Mutation_p.H359Y|RBBP7_uc010nez.3_3'UTR	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	315					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TCATCTTTATGAGATTCGAAG	0.358000														51			7		0	0	0.003080	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456309	5456309	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:5456309C>T	uc002mca.4	+	0	884	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	269						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TATCAGCCTTCTTTGTCCTGA	0.662000														37			4		0	0	0.000248	0	0
VPS13C	54832	broad.mit.edu	37	15	62239485	62239485	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:62239485C>T	uc002agz.3	-	42	4874	c.4783G>A	c.(4783-4785)Gat>Aat	p.D1595N	VPS13C_uc002aha.3_Missense_Mutation_p.D1552N|VPS13C_uc002ahb.2_Missense_Mutation_p.D1595N|VPS13C_uc002ahc.2_Missense_Mutation_p.D1552N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1595					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAAACACATCCTTTTGGGAA	0.313000														57			7		0	0	0.001984	0	0
MRPS2	51116	broad.mit.edu	37	9	138395412	138395412	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:138395412G>A	uc004cfv.4	+	3	398	c.324G>A	c.(322-324)ggG>ggA	p.G108G	BC015688_uc004cfy.3_Non-coding_Transcript	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	108					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACATCTTTGGGAGCCGCCTGG	0.602000														31			5		0	0	0.000602	0	0
SMYD5	10322	broad.mit.edu	37	2	73441397	73441397	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:73441397G>A	uc002siw.2	+	0	32	c.3G>A	c.(1-3)atG>atA	p.M1I	SMYD5_uc010yre.1_5'UTR	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	1							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CGCCCAAGATGGCGGCCTCCA	0.692000														95			7		0	0	0.004482	0	0
MACF1	23499	broad.mit.edu	37	1	39951278	39951278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:39951278C>T	uc021olw.1	+	63	17629	c.17629C>T	c.(17629-17631)Cgg>Tgg	p.R5877W	MACF1_uc021ols.1_Missense_Mutation_p.R5366W|MACF1_uc021olt.1_Missense_Mutation_p.R5369W|MACF1_uc001cde.2_Missense_Mutation_p.R283W|MACF1_uc001cdg.3_3'UTR|MACF1_uc001cdh.3_3'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7327					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			agcCAGCAGCCGGCGAGGAAG	0.562000														28			4		0	0	0.000248	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617227	77617227	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:77617227C>T	uc003yau.2	+	1	1291	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	ZFHX4_uc003yat.1_Missense_Mutation_p.R302W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R302W	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			GCATGATCATCGGATGACCCT	0.423000										HNSCC(33;0.089)				60			5		0	0	0.000602	0	0
ELFN2	114794	broad.mit.edu	37	22	37769893	37769893	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:37769893G>A	uc003asq.4	-	2	2468	c.1682C>T	c.(1681-1683)tCt>tTt	p.S561F	ELFN2_uc021wph.1_Missense_Mutation_p.S561F	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	561						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TCCCAGAAAAGAGGCCGAGTC	0.632000														25			9		0	0	0.004482	0	0
LTA	4049	broad.mit.edu	37	6	31541101	31541101	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31541101G>A	uc011dnu.1	+	3	462	c.249G>A	c.(247-249)acG>acA	p.T83T	LTA_uc003nue.1_Silent_p.T83T|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Silent_p.T30T|LTA_uc003nug.3_Silent_p.T30T|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	83					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	p.T83M(1)		endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	GAGCAAACACGGACCGTGCCT	0.567000														29			6		0	0	0.001168	0	0
FLG	2312	broad.mit.edu	37	1	152281618	152281618	+	Missense_Mutation	SNP	C	T	T	rs145528116		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152281618C>T	uc001ezu.1	-	2	5780	c.5744G>A	c.(5743-5745)gGa>gAa	p.G1915E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1915	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACACTGGATCCCTGGTTCCT	0.582000									Ichthyosis					147			12		0	0	0.002450	0	0
SPAG17	200162	broad.mit.edu	37	1	118629342	118629342	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:118629342G>A	uc001ehk.2	-	11	1631	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	521						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTTCAGTAGGAGGGGGCCTT	0.388000														45			4		0	0	0.000602	0	0
MLF2	8079	broad.mit.edu	37	12	6859102	6859102	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6859102G>A	uc010sfi.2	-	6	534	c.471C>T	c.(469-471)atC>atT	p.I157I	MLF2_uc001qqp.3_Silent_p.I157I|MLF2_uc009zey.1_Silent_p.I157I	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	157					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCTGTCCCGGATGTGATGCC	0.597000														28			8		0	0	0.004482	0	0
REM1	28954	broad.mit.edu	37	20	30064370	30064370	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:30064370C>T	uc002wwa.3	+	1	406	c.122C>T	c.(121-123)tCc>tTc	p.S41F		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	41					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCCACTCAATCCCAGCATCCC	0.637000														18			4		0	0	0.000602	0	0
OVCH1	341350	broad.mit.edu	37	12	29649584	29649584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:29649584C>T	uc001rix.1	-	1	88	c.88G>A	c.(88-90)Gtc>Atc	p.V30I		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	30					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTCATGTTGACCATGCGAATT	0.438000														66			6		0	0	0.004482	0	0
GRM8	2918	broad.mit.edu	37	7	126173845	126173845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:126173845C>T	uc003vlr.2	-	7	1902	c.1591G>A	c.(1591-1593)Ggg>Agg	p.G531R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G531R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	531					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G531E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAAGGGACCCCTTTCACCGTT	0.547000										HNSCC(24;0.065)				35			4		0	0	0.000602	0	0
MS4A3	932	broad.mit.edu	37	11	59830065	59830065	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:59830065G>A	uc001nom.3	+	2	409	c.281G>A	c.(280-282)tGg>tAg	p.W94*	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	94						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACCCGATTTGGGGTGCTGTG	0.423000														48			7		0	0	0.003080	0	0
TRHR	7201	broad.mit.edu	37	8	110100010	110100010	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:110100010C>T	uc003ymz.4	+	0	358	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	90						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.G89S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			ATCTACGGTTCCTGGGTCTAT	0.498000														44			4		0	0	0.000248	0	0
MPZL2	10205	broad.mit.edu	37	11	118133812	118133812	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:118133812G>A	uc001psn.3	-	2	442	c.59_splice	c.e2-1	p.A20_splice	MPZL2_uc001pso.3_Splice_Site_p.A20_splice	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	20					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGGCCAAAGAGCTGCAATGAA	0.428000														64			7		0	0	0.004482	0	0
C10orf12	26148	broad.mit.edu	37	10	98744039	98744039	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98744039T>G	uc001kmv.3	+	0	2999	c.2892T>G	c.(2890-2892)agT>agG	p.S964R		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	964										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGATGGCAGTGATGTCAGCC	0.493000														65			9		0	0	0.004482	0	0
NPR3	4883	broad.mit.edu	37	5	32712194	32712194	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32712194G>A	uc003jhv.3	+	0	757	c.312G>A	c.(310-312)gaG>gaA	p.E104E	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Silent_p.E104E	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	104					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TGGCTTACGAGGATTCAGACT	0.687000														38			4		0	0	0.000248	0	0
GPC5	2262	broad.mit.edu	37	13	92345629	92345629	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:92345629C>T	uc010tif.2	+	2	880	c.514C>T	c.(514-516)Cct>Tct	p.P172S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	172						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.P172S(2)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGTCTTTTTCCTCTGGTCTA	0.458000														43			5		0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21230570	21230570	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21230570T>A	uc002red.3	-	25	9298	c.9170A>T	c.(9169-9171)aAa>aTa	p.K3057I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3057					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAACGAACTTTCAAATTCCC	0.393000														167			14		0	0	0.001855	0	0
MED1	5469	broad.mit.edu	37	17	37565988	37565988	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:37565988T>C	uc002hrv.4	-	16	2698	c.2486A>G	c.(2485-2487)aAc>aGc	p.N829S	MED1_uc010wee.2_Missense_Mutation_p.N657S|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	829	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTCATTATTGTTAGTTTGAAA	0.438000										HNSCC(31;0.082)				51			6		0	0	0.001168	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100002674	100002674	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100002674G>A	uc003uut.3	-	12	1461	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L	ZCWPW1_uc011kjq.2_Silent_p.L285L|ZCWPW1_uc003uur.3_Silent_p.L285L|ZCWPW1_uc003uus.3_Silent_p.L285L|ZCWPW1_uc011kjr.2_Silent_p.L405L|ZCWPW1_uc003uuu.1_Silent_p.L406L|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	405							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCATCATCAGGGCCACCCCC	0.463000														71			5		0	0	0.001984	0	0
OR6N2	81442	broad.mit.edu	37	1	158746824	158746824	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:158746824G>A	uc010pir.2	-	0	602	c.602C>T	c.(601-603)gCc>gTc	p.A201V		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AGCATTAATGGCAAAGTCCAC	0.388000														28			5		0	0	0.000602	0	0
FAM126B	285172	broad.mit.edu	37	2	201876142	201876142	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:201876142G>A	uc002uws.4	-	5	575	c.387C>T	c.(385-387)tcC>tcT	p.S129S	FAM126B_uc002uwu.3_Silent_p.S47S|FAM126B_uc002uwv.3_Silent_p.S129S|FAM126B_uc002uww.1_Silent_p.S129S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	129						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCTTGGATAAGGAGGGGATAG	0.299000														35			5		0	0	0.003080	0	0
HTT	3064	broad.mit.edu	37	4	3225846	3225846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:3225846C>T	uc021xkv.1	+	55	7898	c.7753C>T	c.(7753-7755)Ccg>Tcg	p.P2585S		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2585					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCTCTGTCTCCGGCTACTAC	0.512000														92			6		0	0	0.001168	0	0
FERMT1	55612	broad.mit.edu	37	20	6065812	6065812	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:6065812C>T	uc002wmr.3	-	11	2283	c.1494G>A	c.(1492-1494)agG>agA	p.R498R	FERMT1_uc002wmq.3_Silent_p.R51R|FERMT1_uc010gbt.3_Silent_p.R241R	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	498	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						ATGCAGAGTTCCTGTTTTTCA	0.483000														42			5		0	0	0.001168	0	0
GBA3	57733	broad.mit.edu	37	4	22749095	22749095	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:22749095G>A	uc003gqp.4	+	2	554	c.463G>A	c.(463-465)Gat>Aat	p.D155N	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.D156N	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	155					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TACCTTTGGGGATCGTGTCAA	0.428000														62			11		0	0	0.001368	0	0
COL6A6	131873	broad.mit.edu	37	3	130292980	130292980	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:130292980C>T	uc010htl.3	+	6	3189	c.3158C>T	c.(3157-3159)cCa>cTa	p.P1053L		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1053	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCGGAGTTTCCACTGGGAACT	0.453000														20			6		0	0	0.001984	0	0
C9orf3	84909	broad.mit.edu	37	9	97718249	97718249	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:97718249T>G	uc004ava.3	+	7	1959	c.1824T>G	c.(1822-1824)ttT>ttG	p.F608L	C9orf3_uc004auy.3_Missense_Mutation_p.F509L|C9orf3_uc004auz.1_Missense_Mutation_p.F509L	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	608					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATTTTTCATTTTTAAGAAAAT	0.408000														96			6		0	0	0.001168	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995406	140995406	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140995406C>T	uc004fbt.3	+	3	2540	c.2216C>T	c.(2215-2217)tCt>tTt	p.S739F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S398F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	739							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGTCTTCTCTCCAGAGT	0.552000										HNSCC(15;0.026)				89			9		0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129636653	129636653	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:129636653C>T	uc021zfb.1	+	24	3693	c.3588C>T	c.(3586-3588)ccC>ccT	p.P1196P	LAMA2_uc003qbn.3_Silent_p.P1196P|LAMA2_uc003qbo.3_Silent_p.P1196P	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1196	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCATTCTACCCCTGGTAGATG	0.463000														28			5		0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61830309	61830309	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61830309C>T	uc001jky.3	-	36	10668	c.10330G>A	c.(10330-10332)Gat>Aat	p.D3444N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3444					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCCAGATATCTTTCTTAATT	0.453000														34			4		0	0	0.000602	0	0
EEPD1	80820	broad.mit.edu	37	7	36336730	36336730	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:36336730A>T	uc003tfa.3	+	6	2084	c.1444A>T	c.(1444-1446)Aac>Tac	p.N482Y		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	482					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGCACCAAGAACCCTCAAGG	0.483000														31			5		0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135431576	135431576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:135431576C>T	uc004ezu.1	+	5	6002	c.5711C>T	c.(5710-5712)tCc>tTc	p.S1904F	GPR112_uc010nsb.1_Missense_Mutation_p.S1699F|GPR112_uc010nsc.1_Missense_Mutation_p.S1671F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1904					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)					GTACCTACATCCAATGAGATG	0.433000														42			8		0	0	0.000673	0	0
NCKAP5	344148	broad.mit.edu	37	2	133542973	133542973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:133542973C>T	uc002ttp.3	-	13	1785	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	471							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAATCTAGATCATAAACAAAT	0.502000														50			6		0	0	0.001168	0	0
VBP1	7411	broad.mit.edu	37	X	154464603	154464603	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:154464603G>A	uc004fnc.3	+	4	537	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	VBP1_uc004fnd.3_Missense_Mutation_p.E123K	NM_003372	NP_003363	P61758	PFD3_HUMAN	Homo sapiens von Hippel-Lindau binding protein 1 (VBP1), mRNA.	160					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCCCTGGAGGAAGACCTTGA	0.348000														91			6		0	0	0.003080	0	0
KL	9365	broad.mit.edu	37	13	33635435	33635435	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:33635435C>A	uc001uus.3	+	3	2227	c.2219C>A	c.(2218-2220)cCt>cAt	p.P740H	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	740	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCTGCCTGCCCTTTCTCCCAA	0.488000														50			6		0.00198382	0.00412878	0.001984	1	0
CFB	629	broad.mit.edu	37	6	31905101	31905101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31905101G>A	uc011dor.2	+	4	799	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	CFB_uc003nyc.2_Missense_Mutation_p.E119K|CFB_uc011doo.2_Missense_Mutation_p.E86K|CFB_uc011dop.2_Missense_Mutation_p.E118K|CFB_uc003nyf.3_Missense_Mutation_p.E332K|CFB_uc010jtk.3_Missense_Mutation_p.E200K|CFB_uc011doq.2_Missense_Mutation_p.E303K|CFB_uc003nyh.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	348	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCCAGATCATGAAAATGGAAC	0.463000														148			11		0	0	0.001368	0	0
WIPF1	7456	broad.mit.edu	37	2	175439971	175439971	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:175439971C>T	uc002uiz.3	-	3	419	c.319G>A	c.(319-321)Gga>Aga	p.G107R	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G107R|WIPF1_uc010fqt.1_Missense_Mutation_p.G107R|WIPF1_uc002ujc.1_Missense_Mutation_p.G107R|WIPF1_uc002ujb.2_Missense_Mutation_p.G107R|WIPF1_uc010zep.1_Missense_Mutation_p.G107R	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	107					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TTCGGCATTCCAGCCTGGAAC	0.582000														86			8		0	0	0.000443	0	0
FAM188B	84182	broad.mit.edu	37	7	30891837	30891837	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:30891837C>T	uc003tbt.3	+	10	1630	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	FAM188B_uc010kwe.3_Missense_Mutation_p.S489L|FAM188B_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	518										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTTAGGGCTTCGAGAACACAG	0.463000														35			5		0	0	0.001984	0	0
LAMP5	24141	broad.mit.edu	37	20	9496169	9496169	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9496169A>T	uc002wni.2	+	1	629	c.134A>T	c.(133-135)aAa>aTa	p.K45I	LAMP5_uc010zrc.2_Missense_Mutation_p.K45I	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	45						integral to membrane											AACCCTGAAAAAGATATATTT	0.428000														43			6		0	0	0.001168	0	0
C12orf63	374467	broad.mit.edu	37	12	97045486	97045486	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:97045486C>T	uc021rcc.1	+	2	346	c.268C>T	c.(268-270)Cct>Tct	p.P90S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	90										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAAAACATTTCCTATTAGCCA	0.383000														33			7		0	0	0.003080	0	0
HTR2A	3356	broad.mit.edu	37	13	47469888	47469888	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:47469888G>A	uc010acr.3	-	1	843	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_uc001vbr.3_Intron	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443000														49			6		0	0	0.001984	0	0
GK	2710	broad.mit.edu	37	X	30714753	30714753	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:30714753G>A	uc022buj.1	+	7	861	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	GK_uc004dch.4_Missense_Mutation_p.E228K|GK_uc010ngj.3_Missense_Mutation_p.E228K|GK_uc004dci.4_Missense_Mutation_p.E228K|GK_uc011mjz.2_Missense_Mutation_p.E23K|GK_uc011mka.2_Missense_Mutation_p.E65K|GK_uc010ngk.3_Missense_Mutation_p.E23K	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	228					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AATTCCAATGGAAATTCTTCC	0.289000														66			7		0	0	0.000443	0	0
NCAN	1463	broad.mit.edu	37	19	19338150	19338150	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:19338150C>T	uc002nlz.3	+	7	1820	c.1721C>T	c.(1720-1722)cCc>cTc	p.P574L	NCAN_uc010ecc.1_Missense_Mutation_p.P138L	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	574					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			ATGGTCCCACCCAGCATCTCA	0.612000														40			6		0	0	0.001984	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776679	159776679	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:159776679C>T	uc003lyd.3	-	2	493	c.489G>A	c.(487-489)ggG>ggA	p.G163G		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	118	C1q.					collagen		p.P162L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCATGCTTCCCGGGGGTAC	0.682000														41			7		0	0	0.001984	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031632	110031632	+	Missense_Mutation	SNP	C	T	T	rs141453920		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110031632C>T	uc001dxr.3	+	6	962	c.947C>T	c.(946-948)tCc>tTc	p.S316F	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	316										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGCTCCCCTCCTCAGTCCAG	0.622000														131			8		0	0	0.003080	0	0
ALDOC	230	broad.mit.edu	37	17	26900874	26900874	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:26900874G>A	uc002hbp.3	-	7	1023	c.878C>T	c.(877-879)cCc>cTc	p.P293L	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	293					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CCAGGGTCGGGGAAGGGGGCA	0.602000														66			6		0	0	0.001168	0	0
HDAC3	8841	broad.mit.edu	37	5	141014470	141014470	+	Silent	SNP	G	A	A	rs141667982	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:141014470G>A	uc003llf.2	-	2	255	c.189C>T	c.(187-189)tcC>tcT	p.S63S	HDAC3_uc003lle.1_Silent_p.S6S|HDAC3_uc010jgd.1_Intron|HDAC3_uc010jge.1_Intron|RELL2_uc003lli.3_5'Flank|RELL2_uc003llh.3_5'Flank	NM_003883	NP_003874	O15379	HDAC3_HUMAN	Homo sapiens histone deacetylase 3 (HDAC3), mRNA.	63	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor 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|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TGTAGTCCTCGGAGTGGAAGC	0.552000														50			6		0	0	0.001168	0	0
GRM3	2913	broad.mit.edu	37	7	86469069	86469069	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86469069C>T	uc003uid.3	+	3	3338	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.L619L|GRM3_uc010leh.3_Silent_p.L339L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	747					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CGATGTGATCCTGGTGATCTT	0.448000														28			6		0	0	0.003080	0	0
ATP7B	540	broad.mit.edu	37	13	52544669	52544669	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:52544669G>A	uc001vfw.2	-	2	1659	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ATP7B_uc001vfy.2_Missense_Mutation_p.S390F|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.S501F|ATP7B_uc010tgt.1_Missense_Mutation_p.S501F|ATP7B_uc010tgu.1_Missense_Mutation_p.S501F|ATP7B_uc010tgv.1_Missense_Mutation_p.S501F|ATP7B_uc010tgw.1_Missense_Mutation_p.S469F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	501	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGACACACAGGATGCACAGGT	0.488000									Wilson disease					94			8		0	0	0.004482	0	0
NR3C2	4306	broad.mit.edu	37	4	149115960	149115960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:149115960G>A	uc003ilj.4	-	3	2314	c.1951C>T	c.(1951-1953)Cga>Tga	p.R651*	NR3C2_uc003ilk.4_Nonsense_Mutation_p.R651*|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	651					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCTTTCGTCGAATCTTATCA	0.294000														70			7		0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55582867	55582867	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:55582867G>A	uc010qhy.1	-	34	5035	c.4640C>T	c.(4639-4641)tCa>tTa	p.S1547L	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_Missense_Mutation_p.S1542L|PCDH15_uc021pqz.1_Missense_Mutation_p.S1517L|PCDH15_uc010qhv.1_Missense_Mutation_p.S1537L|PCDH15_uc010qhw.1_Missense_Mutation_p.S1500L|PCDH15_uc010qhx.1_Missense_Mutation_p.S1471L|PCDH15_uc010qhz.1_Missense_Mutation_p.S1542L|PCDH15_uc010qia.1_Missense_Mutation_p.S1520L|PCDH15_uc001jju.1_Missense_Mutation_p.S1540L|PCDH15_uc010qib.1_Missense_Mutation_p.S1517L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1540					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)				TGAAATGTCTGAATTTGTTGA	0.388000										HNSCC(58;0.16)				44			5		0	0	0.001168	0	0
COPS2	9318	broad.mit.edu	37	15	49426226	49426226	+	Nonsense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:49426226A>C	uc001zxh.3	-	7	895	c.816T>G	c.(814-816)taT>taG	p.Y272*	COPS2_uc001zxf.3_Nonsense_Mutation_p.Y265*|COPS2_uc010ufa.2_Nonsense_Mutation_p.Y201*	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	265	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CAGATTCATCATAATTCTTGA	0.373000														40			4		0	0	0.000248	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448834	91448834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:91448834C>T	uc010bnz.2	+	3	531	c.416C>T	c.(415-417)cCg>cTg	p.P139L	MAN2A2_uc010boa.3_Missense_Mutation_p.P181L|MAN2A2_uc002bqc.3_Missense_Mutation_p.P139L|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	139					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GAGGAGCTGCCGTTTGACAAC	0.592000														166			18		0	0	0.000958	0	0
LYPD6	130574	broad.mit.edu	37	2	150327244	150327244	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:150327244C>T	uc002txa.3	+	5	743	c.396C>T	c.(394-396)ccC>ccT	p.P132P	LYPD6_uc021vqt.1_Silent_p.P132P|LYPD6_uc002twy.3_Silent_p.P132P|LYPD6_uc010fnt.3_Non-coding_Transcript|LYPD6_uc002twz.3_Non-coding_Transcript	NM_194317	NP_919298	Q86Y78	LYPD6_HUMAN	Homo sapiens LY6/PLAUR domain containing 6 (LYPD6), transcript variant 2, mRNA.	132	UPAR/Ly6.					extracellular region				large_intestine(1)|lung(4)	5				BRCA - Breast invasive adenocarcinoma(221;0.0667)		TGCCACTGCCCCGAAATGAAA	0.443000														41			5		0	0	0.001168	0	0
GPR111	222611	broad.mit.edu	37	6	47649528	47649528	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649528G>A	uc010jzj.1	+	5	1234	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	GPR111_uc003oyy.3_Missense_Mutation_p.M343I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	411	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CCTGCAAAATGATTCAAGAAA	0.448000														57			8		0	0	0.003080	0	0
CEACAM4	1089	broad.mit.edu	37	19	42133272	42133272	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:42133272G>A	uc010xwd.1	-	0	171	c.60C>T	c.(58-60)atC>atT	p.I20I	CEACAM4_uc002orh.1_Silent_p.I20I	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	20						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCTCACCTGTGATCAGGAGCC	0.662000														15			4		0	0	0.000248	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021286	45021286	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:45021286C>T	uc010ejn.1	-	6	1047	c.1031_splice	c.e6-1	p.Y344_splice	CEACAM20_uc010ejo.1_Splice_Site_p.Y344_splice|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	344						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCAGGACCATCTGTGTGTAAA	0.522000														98			8		0	0	0.003080	0	0
ABCG8	64241	broad.mit.edu	37	2	44099372	44099372	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:44099372C>T	uc002rtq.3	+	7	1228	c.1138C>T	c.(1138-1140)Cca>Tca	p.P380S	ABCG8_uc010yoa.2_Missense_Mutation_p.P379S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	380					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGCGTGACCCCACTAGACAC	0.567000														137			12		0	0	0.003163	0	0
ADH1C	126	broad.mit.edu	37	4	100264011	100264011	+	RNA	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:100264011C>T	uc021xqi.1	-	5		c.854G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.458000														139			14		0	0	0.001855	0	0
RPL10	6134	broad.mit.edu	37	X	153628232	153628232	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:153628232C>T	uc004fkm.2	+	4	467	c.279C>T	c.(277-279)ccC>ccT	p.P93P	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Silent_p.P93P|RPL10_uc004fkn.1_Silent_p.P93P|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_Silent_p.P18P|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	93					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCACCCCTTCCACGTCA	0.522000														27			5		0	0	0.001168	0	0
ACRBP	84519	broad.mit.edu	37	12	6752786	6752786	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6752786G>A	uc001qpu.1	-	5	1044	c.996C>T	c.(994-996)atC>atT	p.I332I	ACRBP_uc010sfg.1_Silent_p.I299I	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	332						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						TATTCTCCACGATCGAATAGC	0.597000														56			8		0	0	0.004482	0	0
EPHA6	285220	broad.mit.edu	37	3	96706657	96706657	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:96706657C>T	uc010how.1	+	2	977	c.934C>T	c.(934-936)Cct>Tct	p.P312S	EPHA6_uc003drp.1_Missense_Mutation_p.P312S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	217						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCCATGTTTCCTGATACCAT	0.468000														83			7		0	0	0.003080	0	0
HEPH	9843	broad.mit.edu	37	X	65417617	65417617	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:65417617C>T	uc011moz.2	+	9	1893	c.1756C>T	c.(1756-1758)Cct>Tct	p.P586S	HEPH_uc004dwn.3_Missense_Mutation_p.P535S|HEPH_uc004dwo.3_Missense_Mutation_p.P265S|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Missense_Mutation_p.P535S	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	532	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGCTCAGGATCCTGCTTGTCT	0.562000														33			4		0	0	0.000248	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212512	50212512	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:50212512C>T	uc001zxu.3	-	17	1996	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	ATP8B4_uc010ber.3_Silent_p.A491A|ATP8B4_uc010ufd.2_Silent_p.A428A|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	618					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A618V(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGGCAGCATTCGCATCTTCAA	0.448000														66			9		0	0	0.000443	0	0
CRHR1	1394	broad.mit.edu	37	17	43907570	43907570	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:43907570A>C	uc010dap.3	+	6	897	c.632A>C	c.(631-633)cAg>cCg	p.Q211P	CRHR1_uc010wjx.2_Missense_Mutation_p.Q7P|CRHR1_uc002ijp.3_Missense_Mutation_p.Q81P|CRHR1_uc002ijm.3_Missense_Mutation_p.Q182P|CRHR1_uc002ijn.3_Missense_Mutation_p.Q142P|CRHR1_uc010dar.3_Missense_Mutation_p.Q182P|CRHR1_uc010dao.3_Missense_Mutation_p.Q81P|CRHR1_uc010daq.3_Missense_Mutation_p.Q7P|CRHR1_uc021tyu.1_Missense_Mutation_p.Q7P|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript	NM_001145146	NP_001138618	P34998	CRFR1_HUMAN	Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA.	211					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GAGGTCCACCAGAGCAACGTG	0.642000														17			4		0	0	0.000248	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337489	22337489	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:22337489C>T	uc021rpg.1	+	1	343	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		ACATTTCTCCCTGCACATCAC	0.463000														41			7		0	0	0.001984	0	0
PRF1	5551	broad.mit.edu	37	10	72360277	72360277	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:72360277C>T	uc009xqg.3	-	1	543	c.382G>A	c.(382-384)Gac>Aac	p.D128N	PRF1_uc001jrf.4_Missense_Mutation_p.D128N	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	128	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						ACCTTCCAGTCGTTGCGGATG	0.632000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					21			4		0	0	0.001168	0	0
SI	6476	broad.mit.edu	37	3	164735569	164735569	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:164735569C>T	uc003fei.3	-	29	3676	c.3613G>A	c.(3613-3615)Gca>Aca	p.A1205T		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1205	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTTTGTTGCAACTTCTGGA	0.323000										HNSCC(35;0.089)				11			4		0	0	0.000248	0	0
PRSS23	11098	broad.mit.edu	37	11	86519058	86519058	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:86519058C>T	uc021qok.1	+	0	373	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Nonsense_Mutation_p.R93*|PRSS23_uc001pcb.3_Nonsense_Mutation_p.R125*	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	125					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGAAAGTCTCGAAGGAAGCG	0.522000														53			5		0	0	0.001984	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39928528	39928528	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:39928528G>A	uc003ayb.3	-	2	170	c.53_splice	c.e2-1	p.A18_splice		NM_194326	NP_919307	Q86WX3	AROS_HUMAN	Homo sapiens ribosomal protein S19 binding protein 1 (RPS19BP1), mRNA.	18						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					GTCCCGGGGGGCTGTAGGGGA	0.652000														25			4		0	0	0.000248	0	0
ZNF275	10838	broad.mit.edu	37	X	152612745	152612745	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:152612745G>A	uc011myn.2	+	1	1315	c.413G>A	c.(412-414)aGg>aAg	p.R138K	ZNF275_uc004fhg.2_Missense_Mutation_p.R201K|ZNF275_uc022cht.1_Missense_Mutation_p.R138K|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	201						intracellular	nucleic acid binding|zinc ion binding			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)					CAGCATCTGAGGGTCCACAGC	0.547000														80			5		0	0	0.001168	0	0
NEK2	4751	broad.mit.edu	37	1	211843679	211843679	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:211843679G>A	uc001hir.2	-	4	860	c.709C>T	c.(709-711)Cca>Tca	p.P237S	NEK2_uc021piq.1_Missense_Mutation_p.P237S|NEK2_uc021pir.1_5'UTR|NEK2_uc001his.4_Missense_Mutation_p.P237S|NEK2_uc001hit.2_Non-coding_Transcript	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	237	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|centrosome separation|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACGGTATGGAATTCGCCTG	0.373000														96			14		0	0	0.003163	0	0
SYNE1	23345	broad.mit.edu	37	6	152737610	152737610	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:152737610C>T	uc021zhb.1	-	38	6185	c.5962G>A	c.(5962-5964)Gag>Aag	p.E1988K	SYNE1_uc003qot.4_Missense_Mutation_p.E1995K|SYNE1_uc003qou.4_Missense_Mutation_p.E1988K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1971K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1988					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAAGCTCCTCTTTCTGGTCT	0.473000										HNSCC(10;0.0054)				151			11		0	0	0.000673	0	0
CD163	9332	broad.mit.edu	37	12	7637852	7637852	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7637852C>T	uc001qsz.3	-	10	2747	c.2619G>A	c.(2617-2619)ggG>ggA	p.G873G	CD163_uc001qta.3_Silent_p.G873G|CD163_uc009zfw.2_Silent_p.G906G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	873	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.G873E(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGTTGATTTTCCCTTTGTCTG	0.512000														42			4		0	0	0.000248	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:88425751C>T	uc002sst.2	-	1	298	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000														106			8		0	0	0.004482	0	0
ZHX1	11244	broad.mit.edu	37	8	124265833	124265833	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:124265833A>G	uc003yqe.3	-	2	2964	c.2354T>C	c.(2353-2355)cTt>cCt	p.L785P	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.L785P|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.L785P|ZHX1_uc022bak.1_Missense_Mutation_p.L785P	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	785					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATAATCCTTAAGTATTGCAGT	0.423000														76			11		0	0	0.000978	0	0
BMS1	9790	broad.mit.edu	37	10	43288439	43288439	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:43288439C>T	uc001jaj.3	+	7	1294	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	312					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ACATCAGTTTCCTCCCAGACC	0.493000														68			8		0	0	0.003080	0	0
CAPN9	10753	broad.mit.edu	37	1	230903338	230903338	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:230903338G>A	uc001htz.1	+	4	701	c.588G>A	c.(586-588)atG>atA	p.M196I	CAPN9_uc009xfg.1_Missense_Mutation_p.M133I|CAPN9_uc001hua.1_Missense_Mutation_p.M196I	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	196	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCGAGGCCATGGAAGACTTCA	0.557000														42			5		0	0	0.000602	0	0
SCN8A	6334	broad.mit.edu	37	12	52188360	52188360	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:52188360G>A	uc001ryw.3	+	25	4908	c.4730G>A	c.(4729-4731)aGg>aAg	p.R1577K	SCN8A_uc010snl.2_Missense_Mutation_p.R1536K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1577					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTGCGTTGAGGCACTACTAC	0.488000														24			4		0	0	0.000248	0	0
DNAH7	56171	broad.mit.edu	37	2	196759894	196759894	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:196759894C>T	uc002utj.4	-	29	4803	c.4702G>A	c.(4702-4704)Gat>Aat	p.D1568N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1568					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCCAGCAAATCATTGTAATCT	0.323000														31			5		0	0	0.001984	0	0
MYF5	4617	broad.mit.edu	37	12	81111303	81111303	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:81111303C>T	uc001szg.2	+	0	596	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	154					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	p.S154S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CAGAGCTGCTCGGAGCCCACC	0.542000														97			10		0	0	0.000978	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453442	20453442	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:20453442A>G	uc001iqg.1	+	6	1466	c.829A>G	c.(829-831)Aaa>Gaa	p.K277E	PLXDC2_uc001iqh.1_Missense_Mutation_p.K228E|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	277						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCATCCAGTGAAAGTCGGACT	0.448000														24			3		0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179665281	179665281	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179665281C>T	uc021vsy.1	-	3	649	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	TTN_uc021vsz.1_Missense_Mutation_p.A142T|TTN_uc021vta.1_Missense_Mutation_p.A142T|TTN_uc021vtb.1_Missense_Mutation_p.A142T|TTN_uc002unb.2_Missense_Mutation_p.A142T|TTN_uc002und.3_Missense_Mutation_p.A142T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	142	Ig-like 2.						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)			TGGATTTCGGCTCCATCCCGG	0.507000														53			5		0	0	0.000602	0	0
TCEAL2	140597	broad.mit.edu	37	X	101382337	101382337	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:101382337G>A	uc022car.1	+	0	535	c.535G>A	c.(535-537)Gat>Aat	p.D179N	TCEAL2_uc004eip.3_Missense_Mutation_p.D179N	NM_080390	NP_525129	Q9H3H9	TCAL2_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 2 (TCEAL2), mRNA.	179					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						TAGGGTGGAGGATAAAAGGAG	0.433000														91			9		0	0	0.000673	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523061	49523061	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:49523061C>G	uc001rtm.3	-	2	560	c.339G>C	c.(337-339)gaG>gaC	p.E113D	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_Missense_Mutation_p.E78D	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	113					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCAATGATCTCCTTGCCAA	0.502000														84			9		0	0	0.000978	0	0
IFNA16	3449	broad.mit.edu	37	9	21216942	21216942	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21216942G>A	uc003zor.1	-	0	369	c.363C>T	c.(361-363)gcC>gcT	p.A121A	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	121					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)		GTGTCACACAGGCTTCTAGGT	0.448000														79			7		0	0	0.003080	0	0
FAM221A	340277	broad.mit.edu	37	7	23740447	23740447	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:23740447A>C	uc003swo.4	+	5	877	c.788A>C	c.(787-789)gAg>gCg	p.E263A	FAM221A_uc003swq.4_Missense_Mutation_p.E227A|FAM221A_uc003swr.4_Missense_Mutation_p.E169A|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript	NM_199136	NP_954587	A4D161	CG046_HUMAN	Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA.	263																	AGACCTGAAGAGGATGATATG	0.338000														181			23		0	0	0.001061	0	0
USP25	29761	broad.mit.edu	37	21	17246820	17246820	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:17246820C>T	uc011aby.1	+	23	3201	c.2984C>T	c.(2983-2985)tCa>tTa	p.S995L	USP25_uc002yjz.1_Missense_Mutation_p.S957L|USP25_uc010gla.1_Missense_Mutation_p.S320L|USP25_uc002yjy.1_Missense_Mutation_p.S925L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAATTGATATCACATTATAGA	0.328000														74			6		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188523	140188523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140188523C>T	uc003lhi.2	+	0	1852	c.1751C>T	c.(1750-1752)tCg>tTg	p.S584L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S584L|PCDHAC2_uc011daa.2_Missense_Mutation_p.S584L	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	597					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCATGGTCGGTGGGTGTG	0.672000														58			6		0	0	0.003080	0	0
HOXB1	3211	broad.mit.edu	37	17	46607149	46607149	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:46607149G>A	uc002ink.1	-	1	672	c.666C>T	c.(664-666)ttC>ttT	p.F222F	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	222						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTTGAAATGGAACTCCTTTT	0.592000														79			8		0	0	0.003080	0	0
SLC3A1	6519	broad.mit.edu	37	2	44513267	44513267	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:44513267C>T	uc002ruc.4	+	3	940	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	SLC3A1_uc002rty.3_Missense_Mutation_p.R288C|SLC3A1_uc002rtz.2_Missense_Mutation_p.R288C|SLC3A1_uc002rua.3_Missense_Mutation_p.R288C|SLC3A1_uc002rub.2_Missense_Mutation_p.R288C|SLC3A1_uc002rud.4_Missense_Mutation_p.R10C	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	288					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	TTTAAATTTCCGCAATCCTGA	0.343000														53			5		0	0	0.000602	0	0
ADAM28	10863	broad.mit.edu	37	8	24199186	24199186	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:24199186C>T	uc003xdy.3	+	15	1829	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.F269F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	582	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TAGTGACTTTCCTGACATGTA	0.423000														61			6		0	0	0.001168	0	0
IFNA6	3443	broad.mit.edu	37	9	21350663	21350664	+	Missense_Mutation	DNP	TC	GG	GG			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21350663_21350664TC>GG	uc011lni.2	-	0	223_224	c.223_224GA>CC	c.(223-225)gaa>CCa	p.E75P		NM_021002	NP_066282	P05013	IFNA6_HUMAN	Homo sapiens interferon, alpha 6 (IFNA6), mRNA.	75					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGAGATGGCTTCAGCCTTCTGG	0.485000														38			5		0	0	0.004672	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564557	66564557	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:66564557C>T	uc002lkk.2	+	7	1378	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	CCDC102B_uc002lki.2_Silent_p.I385I|CCDC102B_uc002lkj.1_Silent_p.I385I	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	385										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGCTGAAGATCCAGGTGAAAG	0.388000														45			5		0	0	0.000602	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004703	52004703	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:52004703G>A	uc002pwx.1	-	0	341	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	95	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GGTCCCCAAGGAGGTGGAATC	0.542000														76			10		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	14	106573654	106573654	+	RNA	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:106573654G>A	uc021ser.1	-	1888		c.35128C>T								Parts of antibodies, mostly variable regions.																		TAGCAACAAGGAAAACCCAGC	0.468000														72			5		0	0	0.001168	0	0
GGT6	124975	broad.mit.edu	37	17	4461413	4461413	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:4461413G>A	uc010vsc.2	-	3	1457	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	MYBBP1A_uc002fxz.4_5'Flank|MYBBP1A_uc002fyb.4_5'Flank|GGT6_uc010vsb.2_Missense_Mutation_p.P312L|GGT6_uc002fyd.4_Missense_Mutation_p.P460L|GGT6_uc002fyc.4_Missense_Mutation_p.P428L	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	460					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACAAGTGCTGGGATGCTCTGT	0.642000														27			4		0	0	0.000248	0	0
COL17A1	1308	broad.mit.edu	37	10	105815129	105815129	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:105815129C>T	uc001kxr.3	-	19	1886	c.1717_splice	c.e19+1	p.G573_splice	COL17A1_uc010qqv.1_Splice_Site_p.G557_splice	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	573	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATGGCAATACCTTTAGGGCC	0.448000														55			7		0	0	0.003080	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64594561	64594561	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:64594561G>A	uc001obs.4	-	33	4350	c.4350C>T	c.(4348-4350)ggC>ggT	p.G1450G		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1450	CRIB.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CGTTGGCAGGGCCCACGTGTA	0.607000														59			5		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61834915	61834915	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61834915C>T	uc001jky.3	-	36	6062	c.5724G>A	c.(5722-5724)atG>atA	p.M1908I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1908					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTCCTCTTTCATTTCAGCTA	0.443000														35			5		0	0	0.000602	0	0
HK2	3099	broad.mit.edu	37	2	75104402	75104402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:75104402C>T	uc002snd.3	+	7	2911	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	329	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCCAGAGCTTCTCAACACCGG	0.557000														89			10		0	0	0.000978	0	0
APC	324	broad.mit.edu	37	5	112174857	112174857	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:112174857C>T	uc003kpz.4	+	16	3759	c.3566C>T	c.(3565-3567)tCa>tTa	p.S1189L	APC_uc011cvt.2_Missense_Mutation_p.S1171L|APC_uc003kpy.4_Missense_Mutation_p.S1189L|APC_uc010jbz.3_Missense_Mutation_p.S906L|APC_uc010jca.3_Missense_Mutation_p.S489L	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1189	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1189*(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATATTCCTTCATCACAGAAA	0.353000		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)				51			7		0	0	0.001984	0	0
CDCP2	200008	broad.mit.edu	37	1	54610287	54610287	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:54610287C>T	uc001cwv.1	-	1	1127	c.279G>A	c.(277-279)ggG>ggA	p.G93G		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	93	CUB 1.					extracellular region		p.G93D(2)|p.G93G(2)|p.G93E(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGTGAGGCCCCATTGTAGA	0.597000														16			4		0	0	0.000602	0	0
TNR	7143	broad.mit.edu	37	1	175375791	175375791	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:175375791G>A	uc001gkp.1	-	0	141	c.60C>T	c.(58-60)atC>atT	p.I20I	TNR_uc009wwu.1_Silent_p.I20I|TNR_uc010pmz.1_Silent_p.I20I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	20					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I20I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCCCAGAAGGATCAGGTTGA	0.552000														57			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179641103	179641103	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179641103C>T	uc021vsy.1	-	27	5713	c.5488G>A	c.(5488-5490)Ggt>Agt	p.G1830S	TTN_uc021vsz.1_Missense_Mutation_p.G1784S|TTN_uc021vta.1_Missense_Mutation_p.G1784S|TTN_uc021vtb.1_Missense_Mutation_p.G1784S|TTN_uc002unb.2_Missense_Mutation_p.G1830S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1830							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)			GTTGTTACACCTGTAAGTGCA	0.453000														42			5		0	0	0.000602	0	0
TMEM217	221468	broad.mit.edu	37	6	37186316	37186316	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:37186316G>A	uc003onl.3	-	1	572	c.491C>T	c.(490-492)tCc>tTc	p.S164F	TMEM217_uc010jwr.3_Missense_Mutation_p.S164F|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.S164F	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	164						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTCTTGTAGGAAATTATATT	0.443000														88			14		0	0	0.001855	0	0
RPAP3	79657	broad.mit.edu	37	12	48091465	48091465	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:48091465G>A	uc001rpr.3	-	3	448	c.332C>T	c.(331-333)aCc>aTc	p.T111I	RPAP3_uc010slk.2_5'UTR|RPAP3_uc001rps.3_Missense_Mutation_p.T111I	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	111							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AGACTCATGGGTACTATCGTC	0.353000														55			7		0	0	0.003080	0	0
SRSF7	6432	broad.mit.edu	37	2	38976774	38976774	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:38976774G>A	uc002rqz.3	-	2	521	c.283C>T	c.(283-285)Cct>Tct	p.P95S	SRSF7_uc010ynp.2_Missense_Mutation_p.P95S|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	95					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CGTCGGGCAGGTGGTCTATCA	0.453000														45			5		0	0	0.000602	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:50555448C>T	uc001zxz.3	-	1	530	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_uc010uff.2_Missense_Mutation_p.R63Q|HDC_uc010bet.2_Missense_Mutation_p.R63Q|HDC_uc010beu.2_Missense_Mutation_p.R63Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000														74			14		0	0	0.002450	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175159	140175159	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140175159G>A	uc003lhd.2	+	0	716	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E204K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E204K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	219	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGAGAGGAAACTGCTGA	0.443000														72			10		0	0	0.000673	0	0
CYP2E1	1571	broad.mit.edu	37	10	135352316	135352316	+	Missense_Mutation	SNP	C	T	T	rs140969399		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:135352316C>T	uc001lnj.1	+	8	1363	c.1330C>T	c.(1330-1332)Cgc>Tgc	p.R444C	CYP2E1_uc001lnk.1_Missense_Mutation_p.R307C|CYP2E1_uc009ybl.1_Missense_Mutation_p.R245C|CYP2E1_uc009ybm.1_Missense_Mutation_p.R98C|CYP2E1_uc001lnl.1_Intron	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	444					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|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			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AGGCCTGGCTCGCATGGAGTT	0.448000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					84			7		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179599268	179599268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179599268G>A	uc021vsy.1	-	48	11776	c.11551C>T	c.(11551-11553)Cag>Tag	p.Q3851*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q512*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4778							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)			ACTTCACACTGAAGTAGAGCA	0.383000														70			7		0	0	0.001984	0	0
TRIML1	339976	broad.mit.edu	37	4	189068223	189068223	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189068223C>T	uc003izm.1	+	5	1219	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	TRIML1_uc003izn.1_Silent_p.L92L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	368	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGGGAATCTCCCCAAGCCAC	0.527000														57			6		0	0	0.001984	0	0
TRIML2	205860	broad.mit.edu	37	4	189022221	189022221	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189022221C>T	uc011cle.1	-	2	691	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Missense_Mutation_p.E107K|TRIML2_uc011clf.1_Missense_Mutation_p.E157K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	107							ligase activity	p.K157N(2)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGTAGCATTTCCTGGAACATC	0.403000														25			4		0	0	0.000248	0	0
NUP210L	91181	broad.mit.edu	37	1	154067584	154067584	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:154067584C>T	uc001fdw.3	-	14	2086	c.2014G>A	c.(2014-2016)Gaa>Aaa	p.E672K	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.E672K	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	672						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AATACCATTTCCTTCACAGAC	0.408000														53			5		0	0	0.001168	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348837	122348837	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:122348837C>T	uc001lev.1	+	6	991	c.639C>T	c.(637-639)atC>atT	p.I213I	PPAPDC1A_uc009xzl.1_Silent_p.I150I|PPAPDC1A_uc001lew.1_3'UTR|PPAPDC1A_uc001lex.1_Missense_Mutation_p.S63L|PPAPDC1A_uc001ley.1_Silent_p.I92I	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	213					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTGGAGTCATCGGCCTCATTT	0.468000														124			8		0	0	0.000443	0	0
BLM	641	broad.mit.edu	37	15	91346770	91346770	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:91346770C>T	uc002bpr.3	+	17	3475	c.3378C>T	c.(3376-3378)atC>atT	p.I1126I	BLM_uc010uqh.2_Silent_p.I1126I|BLM_uc010uqi.2_Silent_p.I751I|BLM_uc010bnx.3_Intron	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1126					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GTGCAAAAATCCAGTCAGGTA	0.348000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					186			14		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38718261	38718261	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:38718261G>A	uc021yzh.1	+	8	1412	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	DNAH8_uc003ooe.2_Missense_Mutation_p.D218N	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						GAATTGGCGTGATTTGGATGC	0.328000														29			5		0	0	0.001168	0	0
SPTAN1	6709	broad.mit.edu	37	9	131345360	131345360	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:131345360C>T	uc004bvl.4	+	14	1953	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	SPTAN1_uc011mbg.2_Missense_Mutation_p.P604L|SPTAN1_uc011mbh.2_Missense_Mutation_p.P616L|SPTAN1_uc004bvm.4_Missense_Mutation_p.P604L|SPTAN1_uc004bvn.4_Missense_Mutation_p.P604L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	604					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.D603G(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCACAGGATCCATCCAACCTA	0.438000														27			5		0	0	0.001168	0	0
ATRX	546	broad.mit.edu	37	X	76939417	76939417	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76939417C>T	uc004ecp.4	-	8	1563	c.1331G>A	c.(1330-1332)cGa>cAa	p.R444Q	ATRX_uc004ecq.4_Missense_Mutation_p.R406Q|ATRX_uc004eco.4_Missense_Mutation_p.R229Q|ATRX_uc004ecr.2_Missense_Mutation_p.R405Q|ATRX_uc010nlx.1_Missense_Mutation_p.R444Q|ATRX_uc010nly.1_Missense_Mutation_p.R389Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	444					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTCCTTTTCGTGCTTTTGT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							139			10		0	0	0.000443	0	0
ZNF558	148156	broad.mit.edu	37	19	8931968	8931968	+	Silent	SNP	G	A	A	rs143685735	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8931968G>A	uc002mkn.1	-	2	365	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.F45F	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CCACATCCTCGAAGGTTACCA	0.587000														30			5		0	0	0.001168	0	0
GPR137C	283554	broad.mit.edu	37	14	53066920	53066920	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:53066920C>A	uc001wzt.4	+	2	578	c.578C>A	c.(577-579)cCa>cAa	p.P193Q	GPR137C_uc001wzu.4_Missense_Mutation_p.P193Q	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	193						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					GGAGATGTCCCAGAAAATCAG	0.373000														75			6		0.00307968	0.00639548	0.003080	1	0
ODZ1	10178	broad.mit.edu	37	X	123663788	123663788	+	Silent	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:123663788A>T	uc010nqy.3	-	15	2761	c.2697T>A	c.(2695-2697)acT>acA	p.T899T	ODZ1_uc011muj.2_Silent_p.T898T|ODZ1_uc004euj.3_Silent_p.T899T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	899					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCACTAGAGGAGTTCCATCTA	0.458000														38			5		0	0	0.000602	0	0
FAM47A	158724	broad.mit.edu	37	X	34148532	34148532	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34148532C>T	uc004ddg.3	-	0	1916	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	622										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGGATTCTTCATCAGCTCCC	0.438000														45			8		0	0	0.000443	0	0
RYR3	6263	broad.mit.edu	37	15	33916099	33916099	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:33916099G>A	uc001zhi.3	+	19	2519	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	RYR3_uc010bar.3_Missense_Mutation_p.E817K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	817					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTCCAAAAGAGAAGATGAG	0.468000														59			5		0	0	0.001168	0	0
CANX	821	broad.mit.edu	37	5	179150759	179150759	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:179150759C>T	uc011dgp.2	+	11	1677	c.1602C>T	c.(1600-1602)atC>atT	p.I534I	CANX_uc003mkk.3_Silent_p.I499I|CANX_uc003mkl.3_Silent_p.I499I|CANX_uc011dgq.2_Silent_p.I391I	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	499					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTGGTTATCCTCTTCTGCT	0.428000														46			4		0	0	0.000248	0	0
SNAP47	116841	broad.mit.edu	37	1	227947071	227947071	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:227947071C>T	uc001hrf.2	+	2	1422	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SNAP47_uc001hra.2_Silent_p.I94I|SNAP47_uc001hrd.3_Silent_p.I336I|SNAP47_uc001hre.3_Silent_p.I94I	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	336						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CAGAGGTTATCCCCATTTTAG	0.488000														66			8		0	0	0.003080	0	0
PCDH10	57575	broad.mit.edu	37	4	134072190	134072190	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:134072190G>A	uc003iha.3	+	0	1721	c.895G>A	c.(895-897)Gag>Aag	p.E299K	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.E299K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	299	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R298L(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCGGGCGCGGGAGCTTTTCGG	0.617000														25			4		0	0	0.000248	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021294	142021294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142021294C>T	uc011krr.1	+	1	459	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.R92C					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCTAACTCTCGCTCTGAGAT	0.522000														20			7		0	0	0.004482	0	0
PDGFD	80310	broad.mit.edu	37	11	103780427	103780427	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103780427G>A	uc001phq.3	-	6	1480	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	PDGFD_uc001php.3_Nonsense_Mutation_p.R364*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	370					positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCTCTTATCGAGGTGGTCTT	0.448000														59			12		0	0	0.001855	0	0
SMAD3	4088	broad.mit.edu	37	15	67482832	67482832	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:67482832C>T	uc002aqj.3	+	8	1534	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	SMAD3_uc010ujr.2_Silent_p.T307T|SMAD3_uc010ujs.2_Silent_p.T368T|SMAD3_uc010ujt.2_Silent_p.T217T	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	412	MH2.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		AGGTCCTCACCCAGATGGGCT	0.552000														10			5		0	0	0.000602	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:5811554C>T	uc010ndi.3	-	6	2330	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	NLGN4X_uc004crp.3_Silent_p.T605T|NLGN4X_uc010ndh.3_Silent_p.T585T|NLGN4X_uc004crq.3_Silent_p.T585T|NLGN4X_uc004crr.3_Silent_p.T585T|NLGN4X_uc010ndj.3_Silent_p.T585T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000														90			8		0	0	0.004482	0	0
NALCN	259232	broad.mit.edu	37	13	101797235	101797235	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:101797235C>T	uc001vox.1	-	15	2041	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	NALCN_uc001voy.3_Missense_Mutation_p.E333K	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	618						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCATTTGCTTCACTTTGCTTT	0.343000														124			8		0	0	0.004482	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055091	72055091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:72055091C>T	uc001xms.3	+	1	863	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R168C|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R168C|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R168C	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	168					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R168R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAAGCTCTTCGCAGAATACG	0.468000														29			5		0	0	0.000602	0	0
CSMD2	114784	broad.mit.edu	37	1	34049281	34049281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34049281G>A	uc001bxm.1	-	46	7378	c.7201C>T	c.(7201-7203)Ctc>Ttc	p.L2401F	CSMD2_uc001bxn.1_Missense_Mutation_p.L2403F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2403	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCTCGCTGAGGAAGTACTCC	0.502000														80			7		0	0	0.003080	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242920	21242920	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:21242920G>A	uc010sil.2	+	15	2192	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	SLCO1B3_uc010sim.2_Silent_p.R648R|SLCO1B3_uc010sin.2_Silent_p.R601R			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	648					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTGTTGTAAGGAAAAAATCCC	0.323000														32			4		0	0	0.000248	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:11461597C>T	uc001qzf.1	-	2	354	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_uc001qzt.3_Missense_Mutation_p.G107E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)				77			6		0	0	0.001984	0	0
PABPC3	5042	broad.mit.edu	37	13	25670866	25670866	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:25670866A>G	uc001upy.3	+	0	591	c.530A>G	c.(529-531)aAa>aGa	p.K177R		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	177					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R176R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAGTCTCGTAAAGAACGAGAA	0.408000														51			5		0	0	0.000602	0	0
PSG2	5670	broad.mit.edu	37	19	43579656	43579656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:43579656G>A	uc002ovr.3	-	2	731	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	187	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTCATAGGGAGGCTCTGACCA	0.483000														83			6		0	0	0.001168	0	0
ACSL5	51703	broad.mit.edu	37	10	114136199	114136200	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:114136199_114136200CT>TC	uc001kzu.3	+	0	244_245	c.132_133CT>TC	c.(130-135)ccctcg>ccTCcg	p.S45P	ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGCGGCCCCCTCGCAGGGTAA	0.599000														43			5		0	0	0.004672	0	0
CFH	3075	broad.mit.edu	37	1	196697622	196697622	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196697622G>A	uc001gtj.4	+	14	2623	c.2383G>A	c.(2383-2385)Gga>Aga	p.G795R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	795	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTGCATAAATGGAAGATGGGA	0.338000														21			4		0	0	0.000602	0	0
OTOGL	283310	broad.mit.edu	37	12	80733021	80733021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:80733021C>T	uc001szd.3	+	41	5006	c.5000C>T	c.(4999-5001)tCa>tTa	p.S1667L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTAACTTGTCATCCTACACA	0.363000														148			9		0	0	0.000978	0	0
TEX19	400629	broad.mit.edu	37	17	80320463	80320463	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:80320463C>T	uc002keq.3	+	1	747	c.437C>T	c.(436-438)cCc>cTc	p.P146L	TEX19_uc021ufp.1_Missense_Mutation_p.P146L	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	146						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						CAGGGTCTTCCCTGGAGATTT	0.602000														31			5		0	0	0.000602	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951526	130951526	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:130951526C>T	uc002tqv.3	-	3	990	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	297					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597000														54			7		0	0	0.004482	0	0
GCK	2645	broad.mit.edu	37	7	44189392	44189392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:44189392C>T	uc003tkl.2	-	5	1116	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	GCK_uc003tkj.1_Missense_Mutation_p.E215K|GCK_uc003tkk.1_Missense_Mutation_p.E217K	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	216					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TGATGGTCTTCGTAGTAGCAG	0.557000														193			11		0	0	0.001855	0	0
SPATA17	128153	broad.mit.edu	37	1	218036175	218036175	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:218036175A>G	uc001hlh.1	+	9	1091	c.1065A>G	c.(1063-1065)tcA>tcG	p.S355S		NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	355						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AATTATATTCAAAAGCTGGAC	0.303000														139			14		0	0	0.004990	0	0
C2orf42	54980	broad.mit.edu	37	2	70402819	70402819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:70402819G>A	uc002sgh.3	-	4	1353	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	342										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCTTTTTAACGAGGAAGCAAC	0.448000														162			16		0	0	0.004990	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325545	150325545	+	Silent	SNP	C	T	T	rs138777121		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150325545C>T	uc022apv.1	-	2	831	c.351G>A	c.(349-351)ggG>ggA	p.G117G	GIMAP6_uc003whn.3_Silent_p.G47G|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	47							GTP binding	p.G47G(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCCTGTTTTCCCCATGAGAA	0.527000														139			15		0	0	0.001216	0	0
USP54	159195	broad.mit.edu	37	10	75302868	75302868	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:75302868G>A	uc001juo.3	-	3	414	c.397C>T	c.(397-399)Cac>Tac	p.H133Y	USP54_uc001jum.3_5'Flank|USP54_uc001jun.3_Non-coding_Transcript|USP54_uc001jup.3_Missense_Mutation_p.H133Y|USP54_uc010qkl.1_Missense_Mutation_p.H133Y|USP54_uc001juq.1_5'Flank	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	133					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGTGGAAGTGAATTCTCATC	0.378000														60			6		0	0	0.001984	0	0
ARID1B	57492	broad.mit.edu	37	6	157528921	157528921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:157528921C>T	uc003qqp.3	+	18	6607	c.6607C>T	c.(6607-6609)Ctt>Ttt	p.L2203F	ARID1B_uc003qqo.3_Missense_Mutation_p.L2216F|ARID1B_uc003qqn.3_Missense_Mutation_p.L2256F	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2203					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCGGAATTCCTTTTGCACGA	0.552000														81			13		0	0	0.001368	0	0
RAG1	5896	broad.mit.edu	37	11	36595249	36595249	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:36595249C>T	uc021qgb.1	+	0	395	c.395C>T	c.(394-396)cCt>cTt	p.P132L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P132L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	132	Interaction with importin alpha-1.				T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCCATGGTCCTGTGGATGGT	0.498000									Familial Hemophagocytic Lymphohistiocytosis					47			5		0	0	0.000602	0	0
BCL9	607	broad.mit.edu	37	1	147092682	147092682	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:147092682C>T	uc001epq.3	+	7	3461	c.2721C>T	c.(2719-2721)tcC>tcT	p.S907S	BCL9_uc010ozr.1_Silent_p.S833S	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	907	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)					CCATTAAGTCCCCCCCTGTTT	0.622000			T	"""IGH@, IGL@"""	B-ALL									41			8		0	0	0.004482	0	0
DMBT1	1755	broad.mit.edu	37	10	124345611	124345611	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124345611G>A	uc001lgk.1	+	15	1601	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	DMBT1_uc001lgl.1_Missense_Mutation_p.G489R|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.G499R|DMBT1_uc021qag.1_Missense_Mutation_p.G489R|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G499R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	499	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGGTGAATGGAGGTGACAG	0.532000														124			9		0	0	0.004482	0	0
OR51S1	119692	broad.mit.edu	37	11	4869952	4869952	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:4869952G>A	uc010qyo.2	-	0	487	c.487C>T	c.(487-489)Ctc>Ttc	p.L163F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCAGATGGAGACCCAGGCAT	0.557000														61			8		0	0	0.003080	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039588	71039588	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:71039588C>T	uc002shf.3	-	4	1607	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	CLEC4F_uc010yqv.1_Silent_p.K510K	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	510	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTGCTCCTCCTTGGAGGCCA	0.517000														25			5		0	0	0.001168	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995819	140995819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140995819G>A	uc004fbt.3	+	3	2953	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.E536K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	877							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGTAGATGAATATACAAG	0.493000										HNSCC(15;0.026)				92			14		0	0	0.003163	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907674	164907674	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:164907674G>A	uc003fej.4	-	1	1389	c.945C>T	c.(943-945)tcC>tcT	p.S315S	SLITRK3_uc003fek.3_Silent_p.S315S|SLITRK3_uc021xgy.1_Silent_p.S315S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	315						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AATGAACAGAGGATAGCATTG	0.478000										HNSCC(40;0.11)				77			11		0	0	0.000673	0	0
S100A1	6271	broad.mit.edu	37	1	153604222	153604222	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:153604222G>A	uc001fck.1	+	2	303	c.190G>A	c.(190-192)Gag>Aag	p.E64K	CHTOP_uc001fcn.2_5'Flank|CHTOP_uc001fcm.2_5'Flank|CHTOP_uc021ozz.1_5'Flank|S100A13_uc001fcj.3_Intron|S100A1_uc001fcl.1_Non-coding_Transcript|CHTOP_uc009woi.2_5'Flank|CHTOP_uc009woj.2_5'Flank	NM_006271	NP_006262	P23297	S10A1_HUMAN	Homo sapiens S100 calcium binding protein A1 (S100A1), mRNA.	64	EF-hand 2.				intracellular signal transduction|regulation of heart contraction	nucleus|protein complex|sarcoplasmic reticulum	ATPase binding|S100 alpha binding|S100 beta binding|calcium ion binding|protein homodimerization activity			breast(1)|cervix(1)|lung(2)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GGAGCTAGACGAGAATGGAGA	0.542000														101			8		0	0	0.000673	0	0
CCNE2	9134	broad.mit.edu	37	8	95894423	95894423	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95894423A>G	uc003yhc.3	-	10	1142	c.1038T>C	c.(1036-1038)ttT>ttC	p.F346F	CCNE2_uc003yhd.2_Silent_p.F346F	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	346					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GAATCTTCTTAAAAGTCTTCA	0.363000														296			26		0	0	0.005443	0	0
ANKRD44	91526	broad.mit.edu	37	2	197990750	197990750	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:197990750C>A	uc021vuj.1	-	4	466	c.273G>T	c.(271-273)caG>caT	p.Q91H	ANKRD44_uc021vuk.1_Missense_Mutation_p.Q66H|ANKRD44_uc002uub.3_Missense_Mutation_p.Q91H|ANKRD44_uc010zgw.2_Missense_Mutation_p.Q19H|ANKRD44_uc002uuc.3_Missense_Mutation_p.Q91H	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	91							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)			TAATCAAAACCTGTACTGCTT	0.463000														42			6		0.000157383	0.000330453	0.003080	1	0
PCSK5	5125	broad.mit.edu	37	9	78973740	78973740	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:78973740G>A	uc004akc.2	+	36	6023	c.5485G>A	c.(5485-5487)Gat>Aat	p.D1829N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	646					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CATGGGCCAGGATGGCACAGT	0.458000														74			10		0	0	0.000673	0	0
LIFR	3977	broad.mit.edu	37	5	38482185	38482185	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:38482185G>A	uc010ive.1	-	19	3138	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	LIFR_uc003jli.2_Missense_Mutation_p.R936C	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	936					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCATCAGAGCGATCTTCAGGA	0.453000			T	PLAG1	salivary adenoma									53			6		0	0	0.001984	0	0
ATRX	546	broad.mit.edu	37	X	76939391	76939391	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76939391C>T	uc004ecp.4	-	8	1589	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K	ATRX_uc004ecq.4_Missense_Mutation_p.E415K|ATRX_uc004eco.4_Missense_Mutation_p.E238K|ATRX_uc004ecr.2_Missense_Mutation_p.E414K|ATRX_uc010nlx.1_Missense_Mutation_p.E453K|ATRX_uc010nly.1_Missense_Mutation_p.E398K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	453					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTTCTTTTCCAAAGCACAA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							149			12		0	0	0.001855	0	0
FAM86EP	348926	broad.mit.edu	37	4	3944146	3944146	+	RNA	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:3944146A>G	uc011bvu.2	-	5		c.2936T>C			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		CTGATCCTGCAGGCAAGCTAA	0.537000														11			4		0	0	0.001984	0	0
FAM47A	158724	broad.mit.edu	37	X	34149091	34149091	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:34149091C>T	uc004ddg.3	-	0	1357	c.1305G>A	c.(1303-1305)ggG>ggA	p.G435G		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	435										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCAGCGTCCTCCCAGAATCCA	0.552000														32			4		0	0	0.001168	0	0
POLR3B	55703	broad.mit.edu	37	12	106772118	106772118	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:106772118C>T	uc001tlp.3	+	7	792	c.570C>T	c.(568-570)atC>atT	p.I190I	POLR3B_uc001tlq.3_Silent_p.I132I	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	190					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACAGGATCATCGTGGAGGCTG	0.413000														56			6		0	0	0.004482	0	0
ITGAD	3681	broad.mit.edu	37	16	31425858	31425858	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:31425858C>T	uc010cap.1	+	16	2135	c.2086C>T	c.(2086-2088)Ccc>Tcc	p.P696S	ITGAD_uc002ebv.1_Missense_Mutation_p.P695S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	695					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P695H(1)|p.T696A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AACCAAGAACCCCACTTTGAC	0.522000														144			13		0	0	0.003163	0	0
C19orf21	126353	broad.mit.edu	37	19	757081	757082	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:757081_757082GG>AA	uc002lpo.3	+	1	218_219	c.135_136GG>AA	c.(133-138)caggat>caAAat	p.D46N		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	46										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GCTGGGGCCAGGATGAGCCGCA	0.678000														16			4		0	0	0.004672	0	0
DST	667	broad.mit.edu	37	6	56458572	56458572	+	Silent	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:56458572G>T	uc003pcy.4	-	28	4854	c.4746C>A	c.(4744-4746)gcC>gcA	p.A1582A	DST_uc010kaa.1_Non-coding_Transcript	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3994					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCAAGATTTGGCAGCTTCCA	0.458000														141			9		0.000442599	0.000928284	0.000443	1	0
PTGFR	5737	broad.mit.edu	37	1	78958973	78958973	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:78958973C>T	uc001din.3	+	1	811	c.545C>T	c.(544-546)tCg>tTg	p.S182L	PTGFR_uc001dim.3_Missense_Mutation_p.S182L	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	182					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S182S(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	ATTCAGGCGTCGAGGACCTGG	0.413000														70			7		0	0	0.001984	0	0
NCF2	4688	broad.mit.edu	37	1	183543712	183543712	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:183543712C>T	uc001gqj.4	-	3	686	c.411G>A	c.(409-411)tgG>tgA	p.W137*	NCF2_uc010pod.2_Intron|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Nonsense_Mutation_p.W137*	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	137			W -> R (in CGD2; dbSNP:rs137854516).		cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGCTTTTTTCCATTCCTCCT	0.433000														52			7		0	0	0.001984	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047174	42047174	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:42047174G>A	uc001cgz.4	-	3	4508	c.3295C>T	c.(3295-3297)Ccg>Tcg	p.P1099S	HIVEP3_uc001cha.4_Missense_Mutation_p.P1099S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1099					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTGCCTCCCGGGGGTCCACCA	0.612000														32			7		0	0	0.001984	0	0
AVPR1B	553	broad.mit.edu	37	1	206224640	206224640	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:206224640C>T	uc001hds.2	+	0	358	c.200C>T	c.(199-201)tCc>tTc	p.S67F		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	67					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGCAAGCGCTCCCGCATGCAC	0.667000														41			4		0	0	0.000602	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526253	176526253	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:176526253C>T	uc001gkz.3	+	1	1959	c.795C>T	c.(793-795)ttC>ttT	p.F265F	PAPPA2_uc001gky.1_Silent_p.F265F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	265					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTATACTTCTCTGGGAGGC	0.572000														30			5		0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10467446	10467446	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:10467446C>T	uc003wtc.3	-	3	4391	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1388					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCAAGAGCCTCTCCTTGCAGT	0.532000														153			18		0	0	0.001523	0	0
INSR	3643	broad.mit.edu	37	19	7142980	7142980	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:7142980G>A	uc002mgd.1	-	11	2498	c.2389C>T	c.(2389-2391)Cct>Tct	p.P797S	INSR_uc002mge.1_Missense_Mutation_p.P785S	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	797	Fibronectin type-III 2.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTCAAAAGGCCTGTGCTCC	0.617000														119			13		0	0	0.001368	0	0
PROZ	8858	broad.mit.edu	37	13	113814420	113814420	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:113814420G>A	uc001vta.1	+	1	170	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	PROZ_uc010agr.1_Missense_Mutation_p.E77K	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	55	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGGAAACTTGGAAAAAGAATG	0.463000														64			6		0	0	0.001168	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435178	18435178	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:18435178G>A	uc001rdt.3	+	1	279	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E55K|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	55					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCCACACTACGAGAGTGAAAT	0.398000														20			4		0	0	0.001168	0	0
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:84811238C>T	uc010fgb.3	+	14	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_uc002soo.3_Missense_Mutation_p.S361F|DNAH6_uc002sop.3_Missense_Mutation_p.S361F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	782	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398000														74			9		0	0	0.000443	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506092	44506092	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:44506092C>T	uc002xqd.3	+	1	1140	c.895C>T	c.(895-897)Cct>Tct	p.P299S	ZSWIM3_uc010zxg.2_Missense_Mutation_p.P293S	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	299							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGATCTTTCCTGCTGCCCG	0.498000														51			5		0	0	0.001168	0	0
DGKK	139189	broad.mit.edu	37	X	50129462	50129462	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:50129462G>A	uc010njr.2	-	14	2285	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	747					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAGGAATGAAGGGCTTCCTAT	0.473000														30			4		0	0	0.000248	0	0
MBL2	4153	broad.mit.edu	37	10	54530441	54530441	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:54530441C>T	uc001jjt.3	-	1	358	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	98	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CGGACTTTTTCCAGGGTCTCC	0.577000														37			5		0	0	0.000602	0	0
OR3A2	4995	broad.mit.edu	37	17	3181816	3181816	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:3181816G>A	uc002fvg.3	-	0	453	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	138					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGTAGGTGAGGGGCTGGCAGA	0.607000														29			4		0	0	0.001168	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298627	125298627	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:125298627G>A	uc004euk.2	-	0	1454	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	427										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCGCATTGGGGAACTCTCCCA	0.617000														65			9		0	0	0.000673	0	0
OR6C75	390323	broad.mit.edu	37	12	55758931	55758931	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:55758931C>T	uc010spk.2	+	0	37	c.37C>T	c.(37-39)Ctt>Ttt	p.L13F		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTTATTCTTCTTGGATTGAC	0.353000														71			7		0	0	0.000443	0	0
DNAH11	8701	broad.mit.edu	37	7	21727062	21727062	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:21727062C>T	uc003svc.3	+	34	5893	c.5862C>T	c.(5860-5862)ttC>ttT	p.F1954F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1954	AAA 1 (By similarity).				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						TTGATGAGTTCAACCGAATCT	0.448000									Kartagener syndrome					17			6		0	0	0.001168	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349572	134349572	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:134349572G>A	uc003qem.1	-	1	1562	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	464						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCTGGCTAAGGACAGCCATTT	0.433000														37			5		0	0	0.001984	0	0
OSTalpha	200931	broad.mit.edu	37	3	195955025	195955025	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:195955025G>A	uc003fwd.3	+	4	603	c.402G>A	c.(400-402)atG>atA	p.M134I	OSTalpha_uc010iac.1_Missense_Mutation_p.M18I|OSTalpha_uc003fwe.3_Missense_Mutation_p.M1I	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	134						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		TGCTGGTCATGGTGGAAGGCT	0.612000														94			6		0	0	0.000443	0	0
CXorf57	55086	broad.mit.edu	37	X	105912433	105912433	+	Silent	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:105912433C>G	uc004emi.4	+	12	2461	c.2310C>G	c.(2308-2310)ccC>ccG	p.P770P	CXorf57_uc004emj.4_Silent_p.P673P	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	770										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTCCTACCCATGTATTGTC	0.413000														154			10		0	0	0.000673	0	0
GLE1	2733	broad.mit.edu	37	9	131284953	131284953	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:131284953C>T	uc004bvj.3	+	3	553	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	GLE1_uc004bvi.3_Silent_p.L147L|GLE1_uc010myd.3_Intron	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	147					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCAGGAGGGCCTGAGGCTATG	0.493000														22			6		0	0	0.001168	0	0
LRIT3	345193	broad.mit.edu	37	4	110788890	110788890	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:110788890C>T	uc003hzx.4	+	1	741	c.548C>T	c.(547-549)cCa>cTa	p.P183L	LRIT3_uc003hzw.4_Missense_Mutation_p.P45L	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	183	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CTTCTGGATCCACTGATGACT	0.463000														32			4		0	0	0.000248	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267408	43267408	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43267408C>T	uc021yzt.1	+	3	646	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	SLC22A7_uc010jyl.1_Silent_p.L181L|SLC22A7_uc003ous.3_Silent_p.L181L|SLC22A7_uc003out.3_Silent_p.L181L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	183						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGTGAGTACCCTGGTGCTGGG	0.582000														81			8		0	0	0.000673	0	0
CACNA2D1	781	broad.mit.edu	37	7	81667445	81667445	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:81667445C>T	uc003uhr.1	-	10	1242	c.986G>A	c.(985-987)gGa>gAa	p.G329E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	329	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.K328E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	atctgtaattcctttggctGT	0.353000														61			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179399404	179399404	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179399404C>T	uc021vsy.1	-	306	94459	c.94234G>A	c.(94234-94236)Gaa>Aaa	p.E31412K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25107K|TTN_uc021vta.1_Missense_Mutation_p.E25040K|TTN_uc021vtb.1_Missense_Mutation_p.E24915K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32339	Fibronectin type-III 129.						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)			GCATAGTATTCTGGGGCAGTG	0.453000														33			5		0	0	0.000602	0	0
TRIM29	23650	broad.mit.edu	37	11	120008350	120008350	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:120008350G>A	uc001pwz.3	-	0	514	c.390C>T	c.(388-390)tcC>tcT	p.S130S	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	130					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCGAGAAAATGGACTTGCGCA	0.637000														75			7		0	0	0.003080	0	0
CDON	50937	broad.mit.edu	37	11	125893356	125893356	+	Nonsense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:125893356C>A	uc009zbw.3	-	1	144	c.16G>T	c.(16-18)Gga>Tga	p.G6*	CDON_uc001qdc.4_Nonsense_Mutation_p.G6*|CDON_uc001qdd.4_5'Flank|CDON_uc009zbx.3_Nonsense_Mutation_p.G6*	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	6					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CATAAGGGTCCAAGATCCGGA	0.443000														47			5		0.00307968	0.00639548	0.003080	1	0
OR2A2	442361	broad.mit.edu	37	7	143807335	143807335	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143807335C>T	uc011ktz.2	+	0	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGCACATCCTCGGGGCCA	0.522000														32			5		0	0	0.000602	0	0
PKP2	5318	broad.mit.edu	37	12	33031321	33031321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:33031321C>T	uc001rlj.4	-	2	608	c.493G>A	c.(493-495)Gat>Aat	p.D165N	PKP2_uc001rlk.4_Missense_Mutation_p.D165N|PKP2_uc010skj.2_Missense_Mutation_p.D165N	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	165					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TACTGGTAATCGCTGTGCGTG	0.597000														57			6		0	0	0.001168	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541347	133541347	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:133541347C>T	uc002ttp.3	-	13	3411	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1013							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATGACTGCTTCTGGGGAGGGC	0.542000														24			4		0	0	0.000248	0	0
BCL11B	64919	broad.mit.edu	37	14	99724040	99724040	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:99724040G>A	uc001yga.3	-	1	462	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BCL11B_uc001ygb.3_Silent_p.F65F	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	65						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCCCCAAGGGGAAGTTCATTT	0.592000			T	TLX3	T-ALL									40			6		0	0	0.003080	0	0
LRRC23	10233	broad.mit.edu	37	12	7022119	7022119	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7022119G>A	uc001qrt.4	+	6	1376	c.984G>A	c.(982-984)caG>caA	p.Q328Q	LRRC23_uc001qrp.3_Silent_p.Q328Q|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	328										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AAAAGGAGCAGGAGCCTGAGC	0.537000														100			9		0	0	0.004482	0	0
EIF4G3	8672	broad.mit.edu	37	1	21276553	21276553	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:21276553C>T	uc001bec.3	-	7	854	c.598G>A	c.(598-600)Gag>Aag	p.E200K	EIF4G3_uc010odi.2_Intron|EIF4G3_uc010odj.2_Missense_Mutation_p.E199K|EIF4G3_uc009vpz.3_Missense_Mutation_p.E200K|EIF4G3_uc001bef.3_Missense_Mutation_p.E199K|EIF4G3_uc001bee.3_Missense_Mutation_p.E206K|EIF4G3_uc001beg.3_Missense_Mutation_p.E199K|EIF4G3_uc010odk.2_Missense_Mutation_p.E200K|EIF4G3_uc001beh.3_Missense_Mutation_p.E211K	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	200					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGCGCTCTCCACAGTCCCA	0.512000														31			4		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712498	140712498	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140712498C>T	uc003lji.2	+	0	2247	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	PCDHGC5_uc011dan.2_Silent_p.F749F	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGGCTTTCCTGCAGACCT	0.627000														42			5		0	0	0.000602	0	0
C10orf2	56652	broad.mit.edu	37	10	102749612	102749612	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:102749612C>T	uc001ksf.2	+	1	2130	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.F31F|C10orf2_uc001ksg.2_Silent_p.F485F|C10orf2_uc001ksi.2_Silent_p.F31F|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	485	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTCTATTTCATGACTTTCC	0.532000														78			7		0	0	0.000443	0	0
SLC16A12	387700	broad.mit.edu	37	10	91222168	91222168	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91222168G>A	uc001kgm.3	-	2	469	c.168C>T	c.(166-168)ttC>ttT	p.F56F		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	26						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TGGTAACAAGGAAACAGCCAG	0.438000														23			5		0	0	0.001168	0	0
SPPL2C	162540	broad.mit.edu	37	17	43922996	43922996	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:43922996G>A	uc010wka.2	+	0	741	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	242						integral to membrane	aspartic-type endopeptidase activity										AGCCCAGAAGGAAGATAATGA	0.612000														42			6		0	0	0.001168	0	0
C12orf51	283450	broad.mit.edu	37	12	112647993	112647993	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:112647993G>A	uc021reb.1	-	49	7687	c.7291C>T	c.(7291-7293)Cgc>Tgc	p.R2431C	C12orf51_uc001ttr.1_Missense_Mutation_p.R318C	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						GCAGCATTGCGGTGGGCCTGC	0.542000														77			6		0	0	0.001984	0	0
STK38L	23012	broad.mit.edu	37	12	27450708	27450708	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:27450708G>A	uc001rhr.3	+	1	254	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	STK38L_uc010sjm.2_Intron	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	19					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity	p.R18W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CCATACCCGGGAAAGAGTGAC	0.403000														35			4		0	0	0.000602	0	0
PARM1	25849	broad.mit.edu	37	4	75937875	75937875	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:75937875C>T	uc003hih.2	+	1	537	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	95					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCAGGTTCGAATTGGGAA	0.527000														37			5		0	0	0.001168	0	0
COL4A4	1286	broad.mit.edu	37	2	227946857	227946857	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:227946857C>G	uc021vxr.1	-	21	1771	c.1670G>C	c.(1669-1671)gGt>gCt	p.G557A	COL4A4_uc021vxs.1_Missense_Mutation_p.G557A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	557	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AACCATGTCACCCTTCGCCCC	0.418000														96			7		0	0	0.004482	0	0
DMXL2	23312	broad.mit.edu	37	15	51741329	51741329	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:51741329G>A	uc010ufy.2	-	42	9191	c.8966C>T	c.(8965-8967)tCc>tTc	p.S2989F	DMXL2_uc002abd.3_Missense_Mutation_p.S1080F|DMXL2_uc002abf.3_Missense_Mutation_p.S2988F|DMXL2_uc010bfa.3_Missense_Mutation_p.S2352F|DMXL2_uc002abc.3_Non-coding_Transcript	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2988						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCGAAATATGGACTGCTTAGC	0.428000														27			4		0	0	0.000248	0	0
SPIC	121599	broad.mit.edu	37	12	101880267	101880267	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:101880267G>A	uc001tid.3	+	5	624	c.465G>A	c.(463-465)ggG>ggA	p.G155G	SPIC_uc010svp.2_Silent_p.G155G|SPIC_uc009zua.3_Silent_p.G30G|SPIC_uc021rcq.1_Silent_p.G30G	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	155						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AGCTTTGGGGGAAAAGAAAAG	0.423000														33			4		0	0	0.000248	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688813	26688813	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:26688813C>G	uc003acb.3	+	1	732	c.536C>G	c.(535-537)gCa>gGa	p.A179G	SEZ6L_uc003acd.3_Missense_Mutation_p.A179G|SEZ6L_uc011akd.2_Missense_Mutation_p.A179G|SEZ6L_uc003ace.3_Missense_Mutation_p.A179G|SEZ6L_uc011akc.2_Missense_Mutation_p.A179G|SEZ6L_uc003acc.3_Missense_Mutation_p.A179G|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	179						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCGAGGAGGCATCAGAAGTG	0.662000														21			3		0	0	0.004672	0	0
CD5L	922	broad.mit.edu	37	1	157805728	157805728	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:157805728G>A	uc001frk.4	-	2	416	c.273C>T	c.(271-273)atC>atT	p.I91I		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	91	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGACTGATTGGATGAGGACCT	0.498000														141			12		0	0	0.001368	0	0
AGAP7	653268	broad.mit.edu	37	10	51472635	51472635	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:51472635G>A	uc001jio.3	-	3	471	c.345C>T	c.(343-345)ttC>ttT	p.F115F	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	115					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATTGTTGACTGAAATGCACAG	0.358000														134			10		0	0	0.001855	0	0
OR2M5	127059	broad.mit.edu	37	1	248308789	248308789	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248308789C>T	uc010pze.2	+	0	340	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CGAATGCTTTCTGTTGGCTGT	0.438000														99			15		0	0	0.002450	0	0
TSPAN8	7103	broad.mit.edu	37	12	71523180	71523180	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71523180G>A	uc009zrt.1	-	6	753	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TSPAN8_uc001swk.1_Silent_p.F197F|TSPAN8_uc001swj.1_Silent_p.F197F	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	197					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			AGTCTTTTATGAAAGAAATAC	0.259000														155			8		0	0	0.000673	0	0
REG4	83998	broad.mit.edu	37	1	120337285	120337285	+	Missense_Mutation	SNP	C	T	T	rs150927973		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:120337285C>T	uc001eig.3	-	6	873	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	REG4_uc001eif.3_Missense_Mutation_p.E145K	NM_001159352	NP_114433	Q9BYZ8	REG4_HUMAN	Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA.	145	C-type lectin.					extracellular region	sugar binding	p.E145K(4)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TTGTTGCATTCGTTGCTGCTC	0.423000														206			18		0	0	0.001882	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015563	41015563	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:41015563C>T	uc003jmj.4	-	28	3392	c.2902G>A	c.(2902-2904)Gaa>Aaa	p.E968K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E523K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	968							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						TGCAGTCTTTCCACTTCCAAG	0.408000														20			5		0	0	0.001168	0	0
PRKCE	5581	broad.mit.edu	37	2	46372340	46372340	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:46372340C>T	uc002rut.3	+	11	1898	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	567	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CCACCACGTTCTGTGGGACTC	0.552000														61			5		0	0	0.001168	0	0
FGF10	2255	broad.mit.edu	37	5	44305163	44305163	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:44305163C>T	uc003jog.1	-	2	561	c.561G>A	c.(559-561)agG>agA	p.R187R		NM_004465	NP_004456	O15520	FGF10_HUMAN	Homo sapiens fibroblast growth factor 10 (FGF10), mRNA.	187					ERK1 and ERK2 cascade|actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of Ras protein signal transduction|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TCTGTCCTCTCCTTGGAGCTC	0.433000														61			8		0	0	0.004482	0	0
C18orf54	162681	broad.mit.edu	37	18	51889214	51889214	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:51889214C>T	uc002lfo.4	+	2	1192	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	C18orf54_uc002lfn.4_Silent_p.S221S	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	221						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TACCAAAGTCCATGAAAAAGG	0.348000														27			4		0	0	0.000248	0	0
PLP2	5355	broad.mit.edu	37	X	49029805	49029805	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:49029805G>A	uc004dmx.3	+	2	484	c.320G>A	c.(319-321)gGa>gAa	p.G107E		NM_002668	NP_002659	Q04941	PLP2_HUMAN	Homo sapiens proteolipid protein 2 (colonic epithelium-enriched) (PLP2), mRNA.	107	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GTTGAGAGAGGAAACCACTCC	0.527000														27			4		0	0	0.000602	0	0
SGCZ	137868	broad.mit.edu	37	8	13965738	13965739	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:13965738_13965739TC>GT	uc003wwq.3	-	5	1213_1214	c.553_554GA>AC	c.(553-555)gaa>ACa	p.E185T	SGCZ_uc010lss.3_Missense_Mutation_p.E138T	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	172					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.E185K(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TACGGCTCCTTCAGTGCCTGGG	0.465000														16			4		0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:7576855G>A	uc002gim.2	-	8	1185	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.Q331*|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Nonsense_Mutation_p.Q199*|TP53_uc010cnf.1_Nonsense_Mutation_p.Q199*|TP53_uc002gii.1_Nonsense_Mutation_p.Q199*|TP53_uc010cni.1_Nonsense_Mutation_p.Q331*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q331*|TP53_uc002gij.2_Nonsense_Mutation_p.Q331*|DL476313_uc021tpe.1_Non-coding_Transcript|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q331*(43)|p.0?(8)|p.Q331H(5)|p.Q331fs*6(4)|p.Q331P(3)|p.L330H(3)|p.L330R(1)|p.?(1)|p.L330P(1)|p.Q331Q(1)|p.Q331R(1)|p.L330fs*15(1)|p.Q331fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTTAGTACCTGAAGGGTGAAA	0.448000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				37			5		0	0	0.003080	0	0
NR5A2	2494	broad.mit.edu	37	1	199996999	199996999	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:199996999G>A	uc001gvb.3	+	0	230	c.24G>A	c.(22-24)ggG>ggA	p.G8G	NR5A2_uc001gvc.3_Silent_p.G8G|NR5A2_uc009wzg.1_Non-coding_Transcript	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	8					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CAGATACTGGGGATTTACAAG	0.328000														38			5		0	0	0.001984	0	0
PPP6C	5537	broad.mit.edu	37	9	127920551	127920551	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:127920551A>T	uc010mwv.3	-	4	680	c.459T>A	c.(457-459)agT>agA	p.S153R	PPP6C_uc004bpg.4_Missense_Mutation_p.S116R|PPP6C_uc010mww.3_Missense_Mutation_p.S94R|PPP6C_uc011lzr.2_Intron	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	116					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTATCTGTCTACTCTCATGAT	0.353000														91			11		0	0	0.000978	0	0
FAT4	79633	broad.mit.edu	37	4	126329778	126329778	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126329778C>T	uc003ifj.4	+	3	5749	c.5749C>T	c.(5749-5751)Cga>Tga	p.R1917*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R215*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1917	Cadherin 18.				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						CCTCACTGTTCGAGCAGAAGA	0.343000														27			4		0	0	0.000602	0	0
ATP1A2	477	broad.mit.edu	37	1	160105690	160105690	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:160105690C>T	uc001fvc.3	+	16	2478	c.2346C>T	c.(2344-2346)ccC>ccT	p.P782P	ATP1A2_uc001fvb.2_Silent_p.P782P|ATP1A2_uc001fvd.3_Silent_p.P518P	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	782					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAACATCCCCGAGATCACCC	0.557000														28			4		0	0	0.000248	0	0
NSUN2	54888	broad.mit.edu	37	5	6618103	6618103	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:6618103A>C	uc003jdu.3	-	7	1231	c.850T>G	c.(850-852)Tgg>Ggg	p.W284G	NSUN2_uc003jdt.3_Missense_Mutation_p.W48G|NSUN2_uc011cmk.2_Missense_Mutation_p.W249G|NSUN2_uc003jdv.3_Missense_Mutation_p.W48G	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	284						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CACTTTTTCCAAACATCAATG	0.393000														62			5		0	0	0.001984	0	0
FAT4	79633	broad.mit.edu	37	4	126411353	126411353	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126411353G>A	uc003ifj.4	+	16	13376	c.13376G>A	c.(13375-13377)gGa>gAa	p.G4459E	FAT4_uc011cgp.2_Missense_Mutation_p.G2700E|FAT4_uc003ifi.1_Missense_Mutation_p.G1936E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4459	EGF-like 6.				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						TCGCACACGGGAAGGACCTGT	0.627000														51			6		0	0	0.001984	0	0
MMRN2	79812	broad.mit.edu	37	10	88717268	88717268	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:88717268C>T	uc001kea.3	-	0	158	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	MMRN2_uc010qmn.2_5'UTR|MMRN2_uc009xtb.2_Missense_Mutation_p.G11S|SNCG_uc001keb.2_5'Flank	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	11						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CCCAGGGGGCCCCCAAGGCTG	0.617000														51			6		0	0	0.001168	0	0
MUC16	94025	broad.mit.edu	37	19	9089545	9089545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:9089545G>A	uc002mkp.3	-	0	2474	c.2270C>T	c.(2269-2271)cCt>cTt	p.P757L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	757	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						TGAGATTTCAGGAGTCCCTGT	0.468000														70			11		0	0	0.000978	0	0
PRDM12	59335	broad.mit.edu	37	9	133553968	133553968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:133553968C>T	uc004bzt.1	+	3	683	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		TCACACAACACCTTCCTGGGG	0.597000														32			6		0	0	0.001168	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326545	37326545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:37326545G>A	uc003aqa.4	+	6	1064	c.847G>A	c.(847-849)Gat>Aat	p.D283N	CSF2RB_uc003aqc.4_Missense_Mutation_p.D283N	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	283					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GCCCAGCCCAGATGCAGGGTG	0.617000														64			9		0	0	0.004482	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535692	69535692	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:69535692C>T	uc021xow.1	-	0	803	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	215					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GCATATGTATCATATTTTTTA	0.343000														101			10		0	0	0.000673	0	0
DPY19L2	283417	broad.mit.edu	37	12	63991597	63991597	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:63991597C>T	uc001srp.1	-	13	1634	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	485					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ACCGCTTTTTCCATGAAGTCA	0.338000														71			9		0	0	0.000443	0	0
ADAM9	8754	broad.mit.edu	37	8	38874779	38874779	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:38874779C>T	uc003xmr.3	+	5	530	c.452C>T	c.(451-453)cCc>cTc	p.P151L	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	151					PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GGGATTGAACCCCTGCAGAAC	0.373000														34			4		0	0	0.001168	0	0
RSPO1	284654	broad.mit.edu	37	1	38078484	38078484	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:38078484C>T	uc001cbl.2	-	7	1627	c.735G>A	c.(733-735)caG>caA	p.Q245Q	RSPO1_uc009vvf.2_Silent_p.Q218Q|RSPO1_uc001cbm.2_Silent_p.Q245Q|RSPO1_uc009vvg.2_Silent_p.Q182Q	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	245					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTGTTGCTGCCCCTTGC	0.642000														42			5		0	0	0.000602	0	0
NMS	129521	broad.mit.edu	37	2	101097588	101097588	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:101097588G>A	uc002tan.1	+	8	380	c.373_splice	c.e8-1	p.D125_splice		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	125					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TATGTTGCAGGATCACACTGC	0.428000														50			6		0	0	0.001984	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882731	47882731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:47882731C>T	uc003tny.2	-	33	5308	c.5274G>A	c.(5272-5274)atG>atA	p.M1758I		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1758					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						TCACAGAACCCATAATAAAAA	0.343000														25			6		0	0	0.003080	0	0
OR5B17	219965	broad.mit.edu	37	11	58125706	58125706	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:58125706G>A	uc010rke.2	-	0	837	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I279L(1)|p.M278I(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCATGGGGATGATCATAGTGT	0.378000														31			8		0	0	0.004482	0	0
IL17RB	55540	broad.mit.edu	37	3	53886994	53886994	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:53886994C>T	uc003dha.3	+	4	490	c.451C>T	c.(451-453)Cct>Tct	p.P151S		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	151					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		TGAAGATGGCCCTTCCATGTC	0.423000														56			5		0	0	0.001168	0	0
CCDC144NL	339184	broad.mit.edu	37	17	20799116	20799116	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:20799116T>C	uc002gyf.3	-	0	338	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	73										large_intestine(3)|lung(3)|skin(1)	7						GACATCGTGCTGGAGCTGGTC	0.652000														52			6		0	0	0.003080	0	0
MYO5C	55930	broad.mit.edu	37	15	52571829	52571829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:52571829G>A	uc010bff.3	-	2	343	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_Missense_Mutation_p.R24W|MIR1266_uc021smp.1_5'Flank	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	61	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCAGGATTCCGAAGTGGAGGC	0.463000														42			5		0	0	0.001168	0	0
RGAG1	57529	broad.mit.edu	37	X	109694885	109694885	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:109694885C>T	uc004eor.2	+	2	1286	c.1040C>T	c.(1039-1041)tCc>tTc	p.S347F	RGAG1_uc011msr.1_Missense_Mutation_p.S347F	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	347										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GAAGCAATGTCCCCAGCACTA	0.547000														142			14		0	0	0.003163	0	0
OR4L1	122742	broad.mit.edu	37	14	20528284	20528284	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20528284C>T	uc001vwn.1	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(2)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAATTTTCTTCTTTGTGACAT	0.383000														55			5		0	0	0.000602	0	0
TECTA	7007	broad.mit.edu	37	11	121016447	121016447	+	Missense_Mutation	SNP	C	T	T	rs140869937		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:121016447C>T	uc010rzo.2	+	10	3727	c.3727C>T	c.(3727-3729)Cgc>Tgc	p.R1243C		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1243	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1243H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTGTGTGGCCGCTACAACGG	0.532000														44			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13736031	13736032	+	Missense_Mutation	DNP	CC	TT	TT	rs140380565		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13736031_13736032CC>TT	uc003jfd.2	-	66	11507_11508	c.11465_11466GG>AA	c.(11464-11466)cgg>cAA	p.R3822Q	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3822					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3822L(4)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGCTGCCCCGCGTAGCCAC	0.446000									Kartagener syndrome					43			5		0	0	0.004672	0	0
PCLO	27445	broad.mit.edu	37	7	82579668	82579668	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:82579668C>T	uc003uhx.2	-	5	10525	c.10236G>A	c.(10234-10236)aaG>aaA	p.K3412K	PCLO_uc003uhv.2_Silent_p.K3412K|PCLO_uc010lec.3_Silent_p.K377K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3343					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						CAGAACTTCTCTTTTTGGGTT	0.418000														36			5		0	0	0.000602	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956092	18956092	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:18956092A>G	uc001mpg.3	-	0	458	c.240T>C	c.(238-240)ctT>ctC	p.L80L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	80					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R79C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGGAATATATAAGGCGGCCGC	0.512000														122			9		0	0	0.004482	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672650	141672650	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:141672650C>T	uc003vwx.1	-	0	924	c.840G>A	c.(838-840)atG>atA	p.M280I		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	280					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CAACACAAACCATCACCCCTA	0.498000														30			5		0	0	0.001168	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														71			11		0	0	0.001368	0	0
KLHL13	90293	broad.mit.edu	37	X	117054225	117054225	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117054225C>T	uc011mtp.2	-	3	491	c.358G>A	c.(358-360)Gat>Aat	p.D120N	KLHL13_uc004eqk.3_Missense_Mutation_p.D66N|KLHL13_uc004eql.3_Missense_Mutation_p.D117N|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.D111N|KLHL13_uc011mtq.2_Missense_Mutation_p.D101N|KLHL13_uc004eqm.3_Missense_Mutation_p.D75N|KLHL13_uc022cde.1_Missense_Mutation_p.D101N	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	117	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTGAAGTAATCACTAGCAGAT	0.388000														59			8		0	0	0.000673	0	0
MKX	283078	broad.mit.edu	37	10	27964240	27964240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:27964240C>T	uc001ity.4	-	6	1202	c.977G>A	c.(976-978)gGa>gAa	p.G326E	MKX_uc001itx.4_Missense_Mutation_p.G326E	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	326					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGGTAGTTCCCTGCAGTTT	0.468000														61			6		0	0	0.003080	0	0
RNASET2	8635	broad.mit.edu	37	6	167352439	167352439	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:167352439G>A	uc003qve.3	-	5	797	c.390C>T	c.(388-390)tcC>tcT	p.S130S	RNASET2_uc003qvf.3_Silent_p.S38S|RNASET2_uc003qvi.1_Missense_Mutation_p.P18L	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	130					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTTCTTCTGGGAGTTGAGCG	0.552000														37			7		0	0	0.001984	0	0
DDI1	414301	broad.mit.edu	37	11	103908034	103908034	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103908034G>A	uc001phr.2	+	0	727	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	162					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCTGCTCAAGGAACGCAACCC	0.622000														59			5		0	0	0.001984	0	0
CDK5	1020	broad.mit.edu	37	7	150752425	150752425	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150752425G>A	uc003wir.2	-	7	636	c.519C>T	c.(517-519)ctC>ctT	p.L173L	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Silent_p.L141L|SLC4A2_uc022apz.1_5'Flank	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	173	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TGGCCCCAAAGAGGACATCCG	0.602000														30			4		0	0	0.000602	0	0
PTPN14	5784	broad.mit.edu	37	1	214549719	214549719	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:214549719G>A	uc001hkk.2	-	14	3403	c.2750C>T	c.(2749-2751)cCa>cTa	p.P917L	PTPN14_uc021piy.1_Missense_Mutation_p.P681L|PTPN14_uc010pty.2_Missense_Mutation_p.P818L	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	917	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTTTTCTTTGGAATTTGCTC	0.448000														61			6		0	0	0.001168	0	0
FRMPD2	143162	broad.mit.edu	37	10	49420116	49420116	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:49420116A>G	uc001jgi.3	-	12	1823	c.1492T>C	c.(1492-1494)Tac>Cac	p.Y498H	FRMPD2_uc001jgh.3_Missense_Mutation_p.Y466H|FRMPD2_uc001jgj.3_Missense_Mutation_p.Y467H	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	498	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.D497V(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCTGGGATGTAATCTTCAACG	0.547000														22			3		0	0	0.000602	0	0
POM121L12	285877	broad.mit.edu	37	7	53103987	53103987	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:53103987G>A	uc003tpz.3	+	0	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667000														53			11		0	0	0.000978	0	0
FOXI1	2299	broad.mit.edu	37	5	169535226	169535226	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:169535226G>A	uc003mai.4	+	1	793	c.748G>A	c.(748-750)Gac>Aac	p.D250N	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	250					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.Q249E(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGCCTCAGGACATCTTGGA	0.597000									Pendred syndrome					45			4		0	0	0.001168	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334721	122334721	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:122334721A>G	uc001lev.1	+	5	876	c.524A>G	c.(523-525)aAg>aGg	p.K175R	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.K175R|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.K112R|PPAPDC1A_uc001lew.1_Missense_Mutation_p.R82G|PPAPDC1A_uc001lex.1_Intron|PPAPDC1A_uc001ley.1_Missense_Mutation_p.K54R	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	175					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GGGCGGGGAAAGAGCTGGCGG	0.587000														42			7		0	0	0.001984	0	0
DPP3	10072	broad.mit.edu	37	11	66260376	66260376	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:66260376C>T	uc001oig.1	+	9	1240	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	DPP3_uc001oif.1_Missense_Mutation_p.P393L|DPP3_uc010rpe.1_Missense_Mutation_p.P382L	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	393					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATCAACATCCCCAACTGTGAG	0.597000														39			5		0	0	0.000602	0	0
TRIML2	205860	broad.mit.edu	37	4	189012810	189012810	+	Missense_Mutation	SNP	G	A	A	rs141991055	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:189012810G>A	uc011cle.1	-	7	1328	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	TRIML2_uc003izj.1_Missense_Mutation_p.S122L|TRIML2_uc003izk.1_Missense_Mutation_p.S102L|TRIML2_uc003izl.2_Missense_Mutation_p.S294L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	294	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CCCCATCACCGACCCCGTGAG	0.572000														75			8		0	0	0.000443	0	0
PANK1	53354	broad.mit.edu	37	10	91359139	91359139	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91359139G>A	uc001kgp.2	-	2	1450	c.1180C>T	c.(1180-1182)Cct>Tct	p.P394S	PANK1_uc001kgn.2_Missense_Mutation_p.P169S|PANK1_uc001kgo.2_Missense_Mutation_p.P169S|PANK1_uc009xtu.2_Missense_Mutation_p.P196S	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	394					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CACAATTCAGGATTTGTGGGA	0.453000														53			10		0	0	0.000443	0	0
GCNT3	9245	broad.mit.edu	37	15	59910665	59910665	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:59910665G>A	uc002age.3	+	2	677	c.228G>A	c.(226-228)ggG>ggA	p.G76G	GCNT3_uc002agd.3_Silent_p.G76G|GCNT3_uc021smz.1_Silent_p.G76G	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	76					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCACCCGAGGGGACCAAGAGG	0.488000														74			9		0	0	0.004482	0	0
ARSH	347527	broad.mit.edu	37	X	2931203	2931203	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:2931203G>A	uc011mhj.2	+	2	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	110						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTACCGCACGGGACTCATAG	0.572000														36			4		0	0	0.000602	0	0
MYOCD	93649	broad.mit.edu	37	17	12656442	12656442	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:12656442C>T	uc002gno.2	+	9	2136	c.1837C>T	c.(1837-1839)Cat>Tat	p.H613Y	MYOCD_uc002gnn.2_Missense_Mutation_p.H613Y|MYOCD_uc002gnp.1_Missense_Mutation_p.H517Y|MYOCD_uc002gnq.2_Missense_Mutation_p.H332Y	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	613					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)		TGGAAATGCTCATTGTGTGGA	0.517000														58			8		0	0	0.000443	0	0
PTPRB	5787	broad.mit.edu	37	12	70953209	70953209	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:70953209C>T	uc001swb.4	-	15	4004	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	PTPRB_uc010sto.2_Missense_Mutation_p.G1235E|PTPRB_uc010stp.2_Missense_Mutation_p.G1235E|PTPRB_uc001swc.4_Missense_Mutation_p.G1543E|PTPRB_uc001swa.4_Missense_Mutation_p.G1455E|PTPRB_uc001swd.4_Missense_Mutation_p.G1542E|PTPRB_uc009zrr.2_Missense_Mutation_p.G1422E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1325	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P1324P(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)			ATAGGATCTCCCTGGACGAAG	0.438000														80			5		0	0	0.000602	0	0
CCDC60	160777	broad.mit.edu	37	12	119773030	119773030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:119773030G>A	uc001txe.3	+	0	514	c.49G>A	c.(49-51)Ggg>Agg	p.G17R		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	17										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCCCAACTCGGGGGCTGTCCG	0.483000														38			5		0	0	0.001168	0	0
GPR111	222611	broad.mit.edu	37	6	47649845	47649845	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47649845G>A	uc010jzj.1	+	5	1551	c.1550G>A	c.(1549-1551)gGa>gAa	p.G517E	GPR111_uc003oyy.3_Missense_Mutation_p.G449E	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACCACAAGGGATGTGTGGCA	0.433000														26			4		0	0	0.000248	0	0
HAND2	9464	broad.mit.edu	37	4	174448523	174448523	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:174448523C>T	uc003itg.1	-	2	545	c.455G>A	c.(454-456)cGa>cAa	p.R152Q	HAND2_uc003ith.1_Missense_Mutation_p.E187K			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity	p.E187K(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TTCAAGATTTCGTTCTGGACA	0.572000														78			6		0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152283841	152283841	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152283841C>T	uc001ezu.1	-	2	3557	c.3521G>A	c.(3520-3522)gGa>gAa	p.G1174E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1174	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCCTTCCTCCTCTCCTTGA	0.597000									Ichthyosis					161			10		0	0	0.000978	0	0
SYN2	6854	broad.mit.edu	37	3	12183415	12183415	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:12183415C>T	uc003bwm.3	+	5	598	c.434C>T	c.(433-435)tCa>tTa	p.S145L	SYN2_uc003bwl.1_Missense_Mutation_p.S145L	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	149					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCAGAATTTTCAGAGCTCAAC	0.478000														178			12		0	0	0.001855	0	0
PLB1	151056	broad.mit.edu	37	2	28771773	28771773	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:28771773G>A	uc002rmb.2	+	14	1027	c.983G>A	c.(982-984)gGg>gAg	p.G328E	PLB1_uc010ezj.2_Missense_Mutation_p.G339E|PLB1_uc002rmc.3_Missense_Mutation_p.G16E	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	328	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTAAAACACGGGAGGCCAATG	0.547000														32			4		0	0	0.000248	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183219	200183219	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:200183219C>T	uc009wzi.1	+	0	564	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	176					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CTGCCTGGGCCCTGCTGCGGG	0.632000														30			4		0	0	0.000248	0	0
SEL1L3	23231	broad.mit.edu	37	4	25785899	25785899	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:25785899T>G	uc003gru.4	-	13	2383	c.2231A>C	c.(2230-2232)aAa>aCa	p.K744T	SEL1L3_uc003grv.3_Missense_Mutation_p.K151T	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	744						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCTGTTCTTTTTTACTCCTTG	0.403000														133			12		0	0	0.004990	0	0
DMBT1	1755	broad.mit.edu	37	10	124339122	124339122	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124339122G>A	uc001lgk.1	+	9	814	c.708G>A	c.(706-708)ctG>ctA	p.L236L	DMBT1_uc001lgl.1_Silent_p.L236L|DMBT1_uc001lgm.1_Silent_p.L236L|DMBT1_uc021qaf.1_Silent_p.L236L|DMBT1_uc021qag.1_Silent_p.L236L|DMBT1_uc021qah.1_Silent_p.L236L|DMBT1_uc009xzz.1_Silent_p.L236L|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.L88L	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	236	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCTGAGGCTGGTGAATGGAG	0.537000														145			14		0	0	0.004007	0	0
MYO3B	140469	broad.mit.edu	37	2	171256785	171256785	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:171256785G>A	uc002ufy.3	+	16	2022	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	MYO3B_uc002ufv.3_Missense_Mutation_p.D614N|MYO3B_uc010fqb.1_Missense_Mutation_p.D627N|MYO3B_uc002ufz.3_Missense_Mutation_p.D627N|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	627	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ACATCAGACTGATAAAAGTGA	0.418000														74			7		0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92577815	92577815	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:92577815C>T	uc001pdj.4	+	17	11299	c.11282C>T	c.(11281-11283)tCc>tTc	p.S3761F	FAT3_uc001pdi.4_Missense_Mutation_p.S201F	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3761					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCACTCGATTCCCACGCGCTC	0.537000										TCGA Ovarian(4;0.039)				129			13		0	0	0.001368	0	0
ZNF536	9745	broad.mit.edu	37	19	30935406	30935406	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:30935406G>A	uc002nsu.1	+	1	1075	c.937G>A	c.(937-939)Gag>Aag	p.E313K	ZNF536_uc010edd.1_Missense_Mutation_p.E313K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E312A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTCGCAGGAGGAGGAGCTCAT	0.647000														66			7		0	0	0.003080	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556686	118556686	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:118556686C>T	uc003pxx.4	+	2	565	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	122					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGAAAACCTCCTGGCAATTTT	0.368000														43			5		0	0	0.001168	0	0
LGR5	8549	broad.mit.edu	37	12	71978321	71978321	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71978321C>T	uc001swl.3	+	17	2579	c.2531C>T	c.(2530-2532)tCa>tTa	p.S844L	LGR5_uc001swm.3_Missense_Mutation_p.S820L|LGR5_uc021rar.1_Missense_Mutation_p.S772L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	844						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGACAAGATCAAAACACCCA	0.448000														239			14		0	0	0.004007	0	0
ODZ1	10178	broad.mit.edu	37	X	123657236	123657236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:123657236C>T	uc010nqy.3	-	16	3075	c.3011G>A	c.(3010-3012)gGa>gAa	p.G1004E	ODZ1_uc011muj.2_Missense_Mutation_p.G1003E|ODZ1_uc004euj.3_Missense_Mutation_p.G1004E	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1004					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AACAATAGTTCCCCTCTCTGG	0.433000														52			6		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179439461	179439461	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179439461G>A	uc021vsy.1	-	274	63919	c.63694C>T	c.(63694-63696)Cgt>Tgt	p.R21232C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14927C|TTN_uc021vta.1_Missense_Mutation_p.R14860C|TTN_uc021vtb.1_Missense_Mutation_p.R14735C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22159	Fibronectin type-III 54.						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)			GCTTTTACACGGAACTGATAC	0.478000														42			5		0	0	0.000602	0	0
ACAP2	23527	broad.mit.edu	37	3	195022715	195022715	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:195022715G>A	uc003fun.4	-	13	1546	c.1305C>T	c.(1303-1305)atC>atT	p.I435I		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	435	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CGGAGCACTCGATACACAAGG	0.522000														65			7		0	0	0.001984	0	0
SKP2	6502	broad.mit.edu	37	5	36168422	36168422	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:36168422C>T	uc003jkc.2	+	4	764	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	SKP2_uc003jkd.3_Missense_Mutation_p.R182C|SKP2_uc011cou.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	182					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGCCCTTTTCGTGTACAGCA	0.498000														85			9		0	0	0.004482	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	Silent	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78211548T>C	uc010bky.2	-	10	983	c.219A>G	c.(217-219)caA>caG	p.Q73Q						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CCACCTGGGATTGGAGCTTTC	0.562000														98			5		0	0	0.000602	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880327	105880327	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:105880327C>T	uc001piy.3	-	2	1146	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	MSANTD4_uc001piz.3_Missense_Mutation_p.E325K	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN	Homo sapiens KIAA1826 (KIAA1826), mRNA.	325						nucleus											CGTTCCTTTTCAATCTGCAGC	0.398000														44			5		0	0	0.000602	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433929	72433929	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:72433929G>A	uc004ebi.3	-	0	782	c.400C>T	c.(400-402)Cat>Tat	p.H134Y		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	134					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCAATGTCATGAAATTCCCTC	0.383000														65			9		0	0	0.004482	0	0
ZP4	57829	broad.mit.edu	37	1	238050838	238050838	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:238050838C>G	uc001hym.3	-	4	864	c.577G>C	c.(577-579)Ggc>Cgc	p.G193R	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	193	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GAGAAATGGCCCTCTCGGGTA	0.522000														37			7		0	0	0.004482	0	0
ITGA8	8516	broad.mit.edu	37	10	15573084	15573084	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:15573084C>T	uc001ioc.1	-	27	2947	c.2947G>A	c.(2947-2949)Gat>Aat	p.D983N	ITGA8_uc010qcb.1_Missense_Mutation_p.D968N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	983					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GCTGGCTGATCTGTATAAGGC	0.308000														65			9		0	0	0.000673	0	0
TAS1R2	80834	broad.mit.edu	37	1	19185996	19185996	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:19185996G>A	uc001bba.1	-	0	160	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	53					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCACCTGCAGGAAGTTAAGGT	0.607000														39			7		0	0	0.003080	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673373	141673373	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:141673373C>T	uc003vwx.1	-	0	201	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCCAAAAATTCACCAAGAAAA	0.493000														27			7		0	0	0.001984	0	0
OTOGL	283310	broad.mit.edu	37	12	80764421	80764421	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:80764421G>A	uc001szd.3	+	54	6666	c.6660G>A	c.(6658-6660)ctG>ctA	p.L2220L	OTOGL_uc021rba.1_Silent_p.L239L|OTOGL_uc009zsg.2_Silent_p.L100L	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAATAATTCTGAACTACACAA	0.303000														68			9		0	0	0.000673	0	0
OR5H14	403273	broad.mit.edu	37	3	97868711	97868711	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:97868711G>A	uc003dsg.1	+	0	482	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCCATGAAGGATTTTTATTC	0.348000														66			6		0	0	0.001168	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604005	140604005	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140604005G>A	uc003ljb.3	+	0	928	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	310	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGATTTTGAAGTAATACA	0.343000														55			9		0	0	0.000443	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869869	151869869	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151869869G>A	uc022chf.1	+	0	559	c.559G>A	c.(559-561)Gat>Aat	p.D187N	MAGEA6_uc004ffq.1_Missense_Mutation_p.D187N|MAGEA6_uc004ffr.1_Missense_Mutation_p.D187N	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	187	MAGE.						protein binding	p.D187N(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTCCTACGATGGCCTGCT	0.557000														74			7		0	0	0.001984	0	0
SNX33	257364	broad.mit.edu	37	15	75942337	75942337	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:75942337C>T	uc002bau.3	+	0	990	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_5'UTR	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	298	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTGGCCGCTTCGAGGAGGACT	0.567000														98			7		0	0	0.001984	0	0
CACNA1C	775	broad.mit.edu	37	12	2714852	2714852	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:2714852T>C	uc009zdu.1	+	24	3429	c.3116T>C	c.(3115-3117)gTt>gCt	p.V1039A	CACNA1C_uc001qkc.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qke.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1019A|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1019A|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1039A|CACNA1C_uc001qkj.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkk.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkm.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qko.2_Missense_Mutation_p.V1039A|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qku.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qks.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1019A|CACNA1C_uc009zdv.1_Missense_Mutation_p.V1016A|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1019A|CACNA1C_uc001qka.1_Missense_Mutation_p.V554A|CACNA1C_uc001qki.1_Missense_Mutation_p.V755A	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1039					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGCATGTGGTTCAGTGTGTG	0.592000														12			4		0	0	0.001168	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756882	56756882	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:56756882C>T	uc010rjp.2	+	0	494	c.494C>T	c.(493-495)tCa>tTa	p.S165L		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTTACATGTTCACTGTCCTTC	0.413000														74			6		0	0	0.001984	0	0
TLL1	7092	broad.mit.edu	37	4	166795173	166795173	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:166795173G>A	uc003irh.2	+	0	764	c.117G>A	c.(115-117)ggG>ggA	p.G39G	TLL1_uc021xud.1_Silent_p.G39G|TLL1_uc011cjn.2_Silent_p.G39G|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	39					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		CTTTTGATGGGAACGAAGAGG	0.567000														103			9		0	0	0.000443	0	0
TAF7L	54457	broad.mit.edu	37	X	100548021	100548021	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:100548021C>T	uc004ehb.3	-	0	39	c.13G>A	c.(13-15)Gag>Aag	p.E5K	TAF7L_uc004ehc.2_5'Flank	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	5					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCTGTCCCTCGGGGCACTCC	0.483000														140			11		0	0	0.000978	0	0
VNN1	8876	broad.mit.edu	37	6	133032891	133032891	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:133032891G>A	uc003qdo.3	-	1	318	c.298C>T	c.(298-300)Cca>Tca	p.P100S		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	100	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TCAGGGTCTGGGATGTCCTCC	0.403000														30			4		0	0	0.000248	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563277	140563277	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140563277G>A	uc003liv.3	+	0	2298	c.1143G>A	c.(1141-1143)acG>acA	p.T381T		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	381	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.K380fs*14(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGGAAGACGATTTCCTCCA	0.488000														41			5		0	0	0.000602	0	0
DSCAM	1826	broad.mit.edu	37	21	41684100	41684100	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr21:41684100G>A	uc002yyq.1	-	8	2422	c.1970C>T	c.(1969-1971)tCc>tTc	p.S657F	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.	657	Ig-like C2-type 7.				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)				CGAGAGATTGGAAATCCTCAA	0.537000														28			6		0	0	0.001168	0	0
DUSP21	63904	broad.mit.edu	37	X	44703829	44703829	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:44703829G>A	uc004dgd.3	+	0	581	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	151	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGGCTTTTGGGAACAGCTCAT	0.517000														36			6		0	0	0.001168	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199319	131199319	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:131199319C>T	uc003qch.2	-	13	2150	c.1968G>A	c.(1966-1968)atG>atA	p.M656I	EPB41L2_uc003qce.1_Missense_Mutation_p.M34I|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_Missense_Mutation_p.M1I	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	656	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTGGATTCCATAAAATTGC	0.468000														20			4		0	0	0.000248	0	0
PDHA1	5160	broad.mit.edu	37	X	19368088	19368088	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:19368088C>T	uc004czg.4	+	2	296	c.151C>T	c.(151-153)Cct>Tct	p.P51S	PDHA1_uc004czh.4_Missense_Mutation_p.P89S|PDHA1_uc011mjc.2_Missense_Mutation_p.P51S|PDHA1_uc011mjd.2_Missense_Mutation_p.P51S	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	51					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	AGAAGGCCCTCCTGTCACAAC	0.458000														39			4		0	0	0.000602	0	0
ASB15	142685	broad.mit.edu	37	7	123264780	123264780	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:123264780C>T	uc003vku.1	+	7	901	c.609C>T	c.(607-609)gtC>gtT	p.V203V	ASB15_uc003vkv.1_Silent_p.V203V|ASB15_uc003vkw.1_Silent_p.V203V	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	203					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGGCAATGTCCACCTGAGAG	0.498000											OREG0018282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179439156	179439156	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179439156C>T	uc021vsy.1	-	274	64224	c.63999G>A	c.(63997-63999)gtG>gtA	p.V21333V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V15028V|TTN_uc021vta.1_Silent_p.V14961V|TTN_uc021vtb.1_Silent_p.V14836V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22260	Ig-like 113.						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)			TTTCTGCAATCACCCGGAACT	0.448000														101			8		0	0	0.000673	0	0
CLPB	81570	broad.mit.edu	37	11	72084003	72084003	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:72084003C>T	uc001osj.3	-	4	752	c.702G>A	c.(700-702)ctG>ctA	p.L234L	CLPB_uc010rqx.2_Silent_p.L189L|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Intron|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	234					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TCCTGAACTCCAGGGCACTTG	0.577000														153			9		0	0	0.000978	0	0
ZNF334	55713	broad.mit.edu	37	20	45132877	45132877	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:45132877C>T	uc002xsa.3	-	2	748	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	ZNF334_uc002xsb.3_Missense_Mutation_p.E35K|ZNF334_uc002xsd.3_Missense_Mutation_p.E35K|ZNF334_uc002xsc.3_Missense_Mutation_p.E73K|ZNF334_uc010ghl.3_Missense_Mutation_p.E72K			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				TTTGAGAATTCCTCCACTATC	0.418000														27			6		0	0	0.003080	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930800	54930800	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54930800G>A	uc003dhf.3	+	25	2319	c.2271G>A	c.(2269-2271)aaG>aaA	p.K757K	CACNA2D3_uc003dhg.1_Silent_p.K663K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	757						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTGGCGACAAGGAGAACATTT	0.522000														71			6		0	0	0.003080	0	0
OR2G2	81470	broad.mit.edu	37	1	247752201	247752201	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:247752201C>T	uc010pyy.2	+	0	540	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGATCATTTCATCTGCGAGG	0.542000														50			9		0	0	0.004482	0	0
SCRN1	9805	broad.mit.edu	37	7	29963630	29963630	+	Silent	SNP	C	T	T	rs140280542		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:29963630C>T	uc011kaa.2	-	7	1297	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	SCRN1_uc011jzy.2_Silent_p.A328A|SCRN1_uc003tak.3_Silent_p.A396A|SCRN1_uc011jzz.2_Silent_p.A396A|SCRN1_uc011jzw.2_Silent_p.A263A|SCRN1_uc010kvp.3_Silent_p.A396A|SCRN1_uc011jzx.2_Silent_p.A219A	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	396					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCCACTTCCGCAGGGTCCA	0.517000														63			5		0	0	0.000602	0	0
KNTC1	9735	broad.mit.edu	37	12	123028814	123028814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:123028814G>A	uc001ucv.3	+	7	830	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	223					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGTGATAATTGGGGTAATTGT	0.294000														94			5		0	0	0.000602	0	0
VPS13B	157680	broad.mit.edu	37	8	100654473	100654473	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:100654473G>A	uc003yiv.3	+	33	5841	c.5730G>A	c.(5728-5730)ggG>ggA	p.G1910G	VPS13B_uc003yiw.3_Silent_p.G1885G	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1910					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTTCAGGGAAAAAAATAG	0.453000														56			5		0	0	0.000602	0	0
GPR32	2854	broad.mit.edu	37	19	51274294	51274294	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:51274294C>T	uc010ycf.2	+	0	437	c.437C>T	c.(436-438)cCc>cTc	p.P146L		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	146						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GTCCTCTACCCCGTCTGGGCC	0.592000														54			5		0	0	0.000602	0	0
COASY	80347	broad.mit.edu	37	17	40714961	40714961	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:40714961C>T	uc010cyj.3	+	2	610	c.408C>T	c.(406-408)ctC>ctT	p.L136L	COASY_uc002hzz.3_Silent_p.L107L|COASY_uc002iab.3_5'UTR|COASY_uc002iad.3_Silent_p.L107L|COASY_uc002iac.3_Silent_p.L107L|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	107					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCAGAATCTCGCCCACCCGC	0.572000														86			6		0	0	0.001168	0	0
KATNAL2	83473	broad.mit.edu	37	18	44580782	44580782	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr18:44580782C>G	uc002lco.3	+	2	283	c.89C>G	c.(88-90)cCg>cGg	p.P30R	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	102	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity	p.P30L(2)		central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATAATTTACCGCAAAGAAGT	0.388000														79			9		0	0	0.000978	0	0
CLIP4	79745	broad.mit.edu	37	2	29344282	29344282	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:29344282C>T	uc002rmv.3	+	1	267	c.28C>T	c.(28-30)Cca>Tca	p.P10S	CLIP4_uc002rmu.3_Missense_Mutation_p.P10S|CLIP4_uc010ezm.1_Missense_Mutation_p.P10S|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	10										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TCCAGATTTTCCATTAGAAGG	0.348000														65			7		0	0	0.001984	0	0
PADI3	51702	broad.mit.edu	37	1	17603076	17603076	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:17603076C>T	uc001bai.3	+	11	1410	c.1370C>T	c.(1369-1371)cCc>cTc	p.P457L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	457					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AAGGTGCAGCCCCCCGTGGAG	0.572000														28			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179444550	179444550	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179444550C>T	uc021vsy.1	-	267	59895	c.59670G>A	c.(59668-59670)ctG>ctA	p.L19890L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L13585L|TTN_uc021vta.1_Silent_p.L13518L|TTN_uc021vtb.1_Silent_p.L13393L|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20817	Ig-like 110.						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)			ACCTCACTTTCAGGTCCACAA	0.408000														43			5		0	0	0.001168	0	0
PTPRK	5796	broad.mit.edu	37	6	128643452	128643452	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:128643452G>A	uc003qbk.3	-	2	594	c.227C>T	c.(226-228)tCc>tTc	p.S76F	PTPRK_uc010kfc.3_Missense_Mutation_p.S76F|PTPRK_uc003qbj.3_Missense_Mutation_p.S76F|PTPRK_uc011ebu.2_Missense_Mutation_p.S76F|PTPRK_uc003qbl.1_Intron|PTPRK_uc011ebv.1_Missense_Mutation_p.S76F|PTPRK_uc003qbm.4_Missense_Mutation_p.S5F	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	76	MAM.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TATCATATAGGAACCTGAAAT	0.353000														51			6		0	0	0.001984	0	0
VSTM2L	128434	broad.mit.edu	37	20	36560081	36560081	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:36560081G>A	uc002xhk.4	+	1	420	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	56	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				ACGGACGGGCGAGGACGTGGA	0.637000														60			7		0	0	0.000443	0	0
LGR5	8549	broad.mit.edu	37	12	71977807	71977807	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:71977807G>A	uc001swl.3	+	17	2065	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	LGR5_uc001swm.3_Missense_Mutation_p.E649K|LGR5_uc021rar.1_Missense_Mutation_p.E601K|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	673						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCAAAATTTGAAACGAAAGC	0.468000														247			12		0	0	0.001855	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231633	141231633	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:141231633G>A	uc003yvh.2	-	16	2790	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	TRAPPC9_uc003yvj.2_Silent_p.V827V|TRAPPC9_uc010mel.1_Silent_p.V248V|TRAPPC9_uc003yvi.1_Silent_p.V818V	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	827					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGGCCGAACGACCTGCCGAA	0.522000														23			7		0	0	0.001984	0	0
UNC45B	146862	broad.mit.edu	37	17	33507639	33507639	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:33507639G>A	uc002hja.3	+	17	2420	c.2323G>A	c.(2323-2325)Gat>Aat	p.D775N	UNC45B_uc002hjb.3_Missense_Mutation_p.D773N|UNC45B_uc002hjc.3_Missense_Mutation_p.D773N|UNC45B_uc010cto.3_Missense_Mutation_p.D694N	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	775					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGAGAATCATGATCAGCTGCG	0.562000														26			4		0	0	0.001168	0	0
KIF2B	84643	broad.mit.edu	37	17	51901157	51901157	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:51901157C>T	uc002iua.2	+	0	919	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	255	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.D254Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAGGTGGACCTCACTCGCTA	0.542000														31			4		0	0	0.000602	0	0
VPRBP	9730	broad.mit.edu	37	3	51475813	51475813	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:51475813G>A	uc003dbe.2	-	7	799	c.614C>T	c.(613-615)cCc>cTc	p.P205L	VPRBP_uc021wys.1_Missense_Mutation_p.P204L|VPRBP_uc003dbg.2_Missense_Mutation_p.P205L	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	205					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGGCAAAAGGGGTTCAGAAGA	0.527000														90			5		0	0	0.001168	0	0
PAPPA	5069	broad.mit.edu	37	9	119033629	119033629	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:119033629A>T	uc004bjn.3	+	8	3268	c.2887A>T	c.(2887-2889)Atg>Ttg	p.M963L	PAPPA_uc011lxp.1_Missense_Mutation_p.M658L|PAPPA_uc011lxq.2_Missense_Mutation_p.M338L	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	963					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATGCGACGACATGAATAAGAT	0.433000														74			9		0	0	0.001855	0	0
C6orf118	168090	broad.mit.edu	37	6	165715342	165715342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:165715342C>T	uc003qum.4	-	1	505	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	157										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCTTTTCTTCCTTCCCCTCT	0.612000														36			6		0	0	0.003080	0	0
PHF8	23133	broad.mit.edu	37	X	54020143	54020143	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:54020143C>T	uc004dsu.3	-	12	1871	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	PHF8_uc004dsv.3_Missense_Mutation_p.R372Q|PHF8_uc004dst.3_Missense_Mutation_p.R506Q|PHF8_uc004dsw.3_Intron|PHF8_uc004dsx.3_Missense_Mutation_p.R270Q|PHF8_uc004dsy.3_Missense_Mutation_p.R506Q	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	542					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CTTGCCCTTTCGCTCTGCCTT	0.512000														40			6		0	0	0.001168	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921816	78921816	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78921816G>A	uc002bed.1	-	4	943	c.831C>T	c.(829-831)ttC>ttT	p.F277F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.F95F	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	277					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TGAGCAGCAGGAAGAATGTCA	0.567000														42			5		0	0	0.000602	0	0
SAMD9	54809	broad.mit.edu	37	7	92734271	92734271	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:92734271G>A	uc003umf.3	-	2	1410	c.1140C>T	c.(1138-1140)ttC>ttT	p.F380F	SAMD9_uc003umg.3_Silent_p.F380F|SAMD9_uc022ahg.1_Silent_p.F380F	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	380						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)			TTTTTGCTCTGAATTTTTCTT	0.323000														53			6		0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33928596	33928596	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:33928596G>A	uc001zhi.3	+	26	3471	c.3401G>A	c.(3400-3402)gGa>gAa	p.G1134E	RYR3_uc010bar.3_Missense_Mutation_p.G1134E	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1134	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCATCAAGGAAGTGGGTAT	0.498000														101			11		0	0	0.000978	0	0
ABCB4	5244	broad.mit.edu	37	7	87092091	87092091	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:87092091C>T	uc003uiv.1	-	3	345	c.269G>A	c.(268-270)gGa>gAa	p.G90E	ABCB4_uc003uiw.1_Missense_Mutation_p.G90E|ABCB4_uc003uix.1_Missense_Mutation_p.G90E|ABCB4_uc003uiy.3_Missense_Mutation_p.G90E	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	90	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGAGAAGTTTCCTGCAGTATC	0.388000														33			5		0	0	0.000602	0	0
BLID	414899	broad.mit.edu	37	11	121986461	121986461	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:121986461G>A	uc001pyf.3	-	0	463	c.170C>T	c.(169-171)cCt>cTt	p.P57L	AK123947_uc009zba.2_Intron	NM_001001786	NP_001001786	Q8IZY5	BLID_HUMAN	Homo sapiens BH3-like motif containing, cell death inducer (BLID), nuclear gene encoding mitochondrial protein, mRNA.	57					apoptosis	mitochondrion				NS(1)|large_intestine(4)|lung(6)|pancreas(1)	12		Breast(109;0.0164)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;2.08e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.101)		AGGCAACATAGGTTCTTTGTT	0.502000											OREG0021435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			5		0	0	0.000602	0	0
FAM35A	54537	broad.mit.edu	37	10	88939874	88939874	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:88939874C>T	uc001kei.4	+	6	2120	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	FAM35A_uc001kej.4_Missense_Mutation_p.P115L	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	669										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CTGGCATTTCCTATTACAGCA	0.343000														71			9		0	0	0.000673	0	0
PRKX	5613	broad.mit.edu	37	X	3592649	3592649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:3592649G>A	uc010nde.3	-	1	706	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	109	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				AGCCTGATGAGGAACGGGTGG	0.567000														44			7		0	0	0.001984	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691407	157691407	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:157691407C>T	uc003wno.3	-	11	1867	c.1746G>A	c.(1744-1746)gaG>gaA	p.E582E	PTPRN2_uc003wnp.3_Silent_p.E565E|PTPRN2_uc003wnq.3_Silent_p.E553E|PTPRN2_uc003wnr.3_Silent_p.E544E|PTPRN2_uc011kwa.2_Silent_p.E605E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	582						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGAGGTTTCCTCCAGTTTGT	0.512000														98			7		0	0	0.000443	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425190	71425190	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:71425190C>T	uc004eaq.1	-	1	3524	c.3427G>A	c.(3427-3429)Gaa>Aaa	p.E1143K	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.E1020K	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1143					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					GGATCCTCTTCTGTATACTTG	0.493000														46			5		0	0	0.000602	0	0
FLG	2312	broad.mit.edu	37	1	152281481	152281481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152281481G>A	uc001ezu.1	-	2	5917	c.5881C>T	c.(5881-5883)Cac>Tac	p.H1961Y		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1961	Ser-rich.		H -> Q (in dbSNP:rs3126079).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1960R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTTCGTGATGGGACCCA	0.572000									Ichthyosis					176			15		0	0	0.002450	0	0
FDPS	2224	broad.mit.edu	37	1	155279906	155279906	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:155279906C>T	uc001fkc.2	+	2	468	c.249C>T	c.(247-249)ttC>ttT	p.F83F	FDPS_uc021paw.1_Silent_p.F17F|FDPS_uc001fkd.2_Silent_p.F17F|FDPS_uc021pax.1_Intron|FDPS_uc001fke.2_Silent_p.F83F	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	83					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGCAGGATTTCGTTCAGCACT	0.488000														27			4		0	0	0.000602	0	0
PBRM1	55193	broad.mit.edu	37	3	52651513	52651513	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:52651513T>C	uc003des.2	-	13	1595	c.1583A>G	c.(1582-1584)aAt>aGt	p.N528S	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.N528S|PBRM1_uc003der.2_Missense_Mutation_p.N496S|PBRM1_uc003det.2_Missense_Mutation_p.N543S|PBRM1_uc003deu.2_Missense_Mutation_p.N543S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.N528S|PBRM1_uc010hmk.1_Missense_Mutation_p.N528S|PBRM1_uc003dey.2_Missense_Mutation_p.N528S|PBRM1_uc003dez.1_Missense_Mutation_p.N528S|PBRM1_uc003dfb.1_Missense_Mutation_p.N441S|PBRM1_uc003dfc.3_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	528					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.N528fs*41(3)|p.N496fs*41(1)|p.N528I(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAGAACAACATTGAATAAGAT	0.348000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									40			7		0	0	0.001984	0	0
NPAS4	266743	broad.mit.edu	37	11	66192411	66192411	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:66192411C>T	uc001ohx.1	+	6	2226	c.2050C>T	c.(2050-2052)Ctg>Ttg	p.L684L	NPAS4_uc010rpc.1_Silent_p.L474L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	684					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGTGCTCAGCCTGGACCTGAA	0.602000														67			9		0	0	0.000443	0	0
KRT71	112802	broad.mit.edu	37	12	52943921	52943921	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:52943921C>T	uc001sao.3	-	1	618	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	183	Linker 1.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTGATGTAGCCCTCGAGGAT	0.597000														43			5		0	0	0.000602	0	0
GABRA4	2557	broad.mit.edu	37	4	46930735	46930735	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:46930735T>C	uc003gxg.3	-	8	2155	c.1172A>G	c.(1171-1173)aAt>aGt	p.N391S	GABRA4_uc021xnz.1_Missense_Mutation_p.N372S|GABRA4_uc021xoa.1_Missense_Mutation_p.N321S	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	391					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACCAAAGCATTTGTTCTTTT	0.328000														16			4		0	0	0.000602	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142499830	142499830	+	RNA	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142499830G>A	uc003wbe.4	+	3		c.500G>A			TCRBV3S1_uc022anx.1_Non-coding_Transcript|TCRBV3S1_uc003wbi.4_Non-coding_Transcript|TCRBV3S1_uc022any.1_Non-coding_Transcript|TCRBV3S1_uc003wbm.4_Non-coding_Transcript|TCRBV3S1_uc003wbn.4_Non-coding_Transcript|TCRBV3S1_uc010los.3_Non-coding_Transcript					Human TCR Cbeta1 chain cDNA.																		CATCCTCTATGAGATCTTGCT	0.572000														39			6		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209354	140209354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140209354G>A	uc003lho.2	+	0	1705	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.D560N	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	574	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.687000														49			9		0	0	0.004482	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687279	68687279	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:68687279C>T	uc001jmz.1	+	1	1155	c.605C>T	c.(604-606)gCt>gTt	p.A202V	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.A202V	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	202						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AATGTCTTTGCTGGCATGATC	0.478000														73			10		0	0	0.000443	0	0
ZNF536	9745	broad.mit.edu	37	19	31039516	31039516	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:31039516G>A	uc002nsu.1	+	3	3128	c.2990G>A	c.(2989-2991)aGc>aAc	p.S997N	ZNF536_uc010edd.1_Missense_Mutation_p.S997N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTGCAGGACAGCATTGCATGG	0.582000														53			9		0	0	0.000443	0	0
TCRA	0	broad.mit.edu	37	14	22592027	22592027	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:22592027C>T	uc001wdd.2	+	1	259	c.112C>T	c.(112-114)Cct>Tct	p.P38S	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc010ajj.1_Missense_Mutation_p.P38S|TCRA_uc001wde.1_Missense_Mutation_p.P12S|TCRA_uc010aji.1_Missense_Mutation_p.P38S					Homo sapiens TRA mRNA for T cell receptor alpha chain, partial cds, allele:TRAV19*01+TRAJ53*01.																		TGCAAACCTGCCTTGTAATCA	0.448000														23			9		0	0	0.004482	0	0
ERC2	26059	broad.mit.edu	37	3	56330089	56330089	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:56330089C>T	uc021wzo.1	-	1	1172	c.1032G>A	c.(1030-1032)gtG>gtA	p.V344V	ERC2_uc003dhr.1_Silent_p.V344V	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	344						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GATCTAAAATCACTTCCAAGT	0.428000														59			7		0	0	0.001984	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455080	37455080	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:37455080A>G	uc002rpz.3	-	1	1286	c.1256T>C	c.(1255-1257)gTt>gCt	p.V419A		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	419					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ACCAGACACAACTCCTTTCAT	0.388000														83			9		0	0	0.000673	0	0
GLI3	2737	broad.mit.edu	37	7	42004786	42004786	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:42004786G>C	uc011kbh.2	-	14	3976	c.3885C>G	c.(3883-3885)ttC>ttG	p.F1295L	GLI3_uc011kbg.2_Missense_Mutation_p.F1236L	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1295					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGGCAGGCCGAAATTCAGCT	0.632000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					33			8		0	0	0.004482	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883353	228883353	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228883353C>T	uc002vpq.2	-	6	2264	c.2217G>A	c.(2215-2217)aaG>aaA	p.K739K	SPHKAP_uc002vpp.2_Silent_p.K739K|SPHKAP_uc010zlx.1_Silent_p.K739K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	739						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGATGGTCTCCTTAGAAAGGA	0.473000														76			7		0	0	0.001984	0	0
OR5K4	403278	broad.mit.edu	37	3	98072976	98072976	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:98072976C>T	uc011bgv.2	+	0	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GAATTATTTCCCTGTATGAAT	0.433000														123			7		0	0	0.003080	0	0
ESRP1	54845	broad.mit.edu	37	8	95683690	95683690	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:95683690C>T	uc003ygq.4	+	10	1426	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ESRP1_uc003ygr.4_Nonsense_Mutation_p.R415*|ESRP1_uc003ygs.4_Nonsense_Mutation_p.R415*|ESRP1_uc003ygt.4_Nonsense_Mutation_p.R415*|ESRP1_uc003ygu.4_Nonsense_Mutation_p.R415*|ESRP1_uc003ygv.3_Nonsense_Mutation_p.R255*|ESRP1_uc003ygw.3_Nonsense_Mutation_p.R255*	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	415					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGTGCTGAATCGATTCTCCTC	0.478000														111			12		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179595732	179595732	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179595732T>G	uc021vsy.1	-	56	14153	c.13928A>C	c.(13927-13929)aAg>aCg	p.K4643T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K1304T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5570	Ig-like 26.						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)			ACTATCTTTCTTTTCTGTAGA	0.378000														89			9		0	0	0.000443	0	0
ARMC10	83787	broad.mit.edu	37	7	102738815	102738815	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:102738815C>T	uc003vaw.2	+	6	1239	c.847C>T	c.(847-849)Cta>Tta	p.L283L	ARMC10_uc003vay.2_Silent_p.L224L|ARMC10_uc003vax.2_Silent_p.L248L|ARMC10_uc003vbb.2_Silent_p.L189L|ARMC10_uc011kli.2_Silent_p.L224L|ARMC10_uc010lis.2_Silent_p.L165L	NM_031905	NP_114111	Q8N2F6	ARM10_HUMAN	Homo sapiens armadillo repeat containing 10 (ARMC10), transcript variant A, mRNA.	283					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	p.T282M(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTACTTACGCTATTTCAGAA	0.368000														80			7		0	0	0.001984	0	0
EXOSC10	5394	broad.mit.edu	37	1	11137440	11137440	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:11137440G>A	uc001asa.3	-	15	1911	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S	EXOSC10_uc001asb.3_Missense_Mutation_p.P621S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	621					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGATGATTGGATAGCCATCC	0.527000														57			7		0	0	0.003080	0	0
KIFC1	3833	broad.mit.edu	37	6	33374381	33374381	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:33374381C>T	uc003oef.4	+	8	2290	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	KIFC1_uc011drf.2_Missense_Mutation_p.P606S	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	614					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTCCCACGTGCCTTACCGGAA	0.542000														30			5		0	0	0.001168	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505165	70505165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:70505165G>A	uc011caq.2	-	2	913	c.797C>T	c.(796-798)tCa>tTa	p.S266L	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.S65L|UGT2A1_uc021xox.1_Missense_Mutation_p.S65L|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	56					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.R266H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAGTTGCTGATGAAGCCAG	0.358000														53			7		0	0	0.004482	0	0
BEX1	55859	broad.mit.edu	37	X	102317848	102317848	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:102317848C>T	uc022cbj.1	-	0	355	c.355G>A	c.(355-357)Gat>Aat	p.D119N	BEX1_uc004ejt.1_Missense_Mutation_p.D119N	NM_018476	NP_060946	Q9HBH7	BEX1_HUMAN	Homo sapiens brain expressed, X-linked 1 (BEX1), mRNA.	119					cell differentiation|nervous system development	cytoplasm|nucleus		p.H118N(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						CAAAACTCATCATGATGGTCA	0.488000														60			7		0	0	0.003080	0	0
CLVS1	157807	broad.mit.edu	37	8	62289207	62289207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:62289207G>A	uc003xuh.3	+	2	823	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	CLVS1_uc003xug.2_Nonsense_Mutation_p.W165*|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	167	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTGTCATTGGAAGTCCTAAT	0.443000														38			4		0	0	0.001168	0	0
GFPT1	2673	broad.mit.edu	37	2	69565122	69565122	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:69565122T>C	uc002sfi.2	-	14	1573	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	GFPT1_uc002sfh.3_Missense_Mutation_p.I446V	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	464	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGTTTGTGATCCCCACAGTT	0.443000														48			4		0	0	0.000248	0	0
ADCY8	114	broad.mit.edu	37	8	132051665	132051665	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:132051665G>A	uc003ytd.4	-	0	1171	c.915C>T	c.(913-915)atC>atT	p.I305I	ADCY8_uc010mds.3_Silent_p.I305I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	305					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACTTGGAGGATGACCTGCA	0.597000										HNSCC(32;0.087)				34			6		0	0	0.001168	0	0
IL4I1	259307	broad.mit.edu	37	19	50399093	50399093	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:50399093C>T	uc002pqv.2	-	5	1087	c.258G>A	c.(256-258)gtG>gtA	p.V86V	IL4I1_uc002pqt.1_Silent_p.V77V|IL4I1_uc021uxy.1_Silent_p.V99V|IL4I1_uc002pqu.2_Silent_p.V99V|IL4I1_uc010eno.2_Silent_p.V85V	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	77						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CATCGCTGAGCACCTTGGCGG	0.657000														63			6		0	0	0.000443	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179102	38179102	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:38179102C>T	uc002rqn.2	+	1	870	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TAAAAGATTTCCTTCATCCTC	0.398000														31			5		0	0	0.000602	0	0
FNDC1	84624	broad.mit.edu	37	6	159653040	159653040	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:159653040G>A	uc010kjv.3	+	10	1696	c.1496G>A	c.(1495-1497)gGg>gAg	p.G499E	FNDC1_uc010kjw.1_Missense_Mutation_p.G384E	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	499						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCTCCCCAAGGGAGAAATGCC	0.552000														26			6		0	0	0.001984	0	0
TRPM6	140803	broad.mit.edu	37	9	77386731	77386731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:77386731C>T	uc004ajl.1	-	24	3662	c.3424G>A	c.(3424-3426)Gat>Aat	p.D1142N	TRPM6_uc004ajk.1_Missense_Mutation_p.D1137N|TRPM6_uc022bib.1_Missense_Mutation_p.D1137N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D98N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1142					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTTCAGATCCTCCTTACTG	0.383000														60			5		0	0	0.001984	0	0
LGR6	59352	broad.mit.edu	37	1	202205081	202205081	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:202205081C>T	uc001gxu.3	+	3	388	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	LGR6_uc001gxv.3_Missense_Mutation_p.P78S|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P87S|LGR6_uc009xac.1_5'Flank	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	130						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGAGGAATCCCCGCAGAGGC	0.607000														29			5		0	0	0.001984	0	0
ATRX	546	broad.mit.edu	37	X	76938476	76938476	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:76938476G>A	uc004ecp.4	-	8	2504	c.2272C>T	c.(2272-2274)Cat>Tat	p.H758Y	ATRX_uc004ecq.4_Missense_Mutation_p.H720Y|ATRX_uc004eco.4_Missense_Mutation_p.H543Y|ATRX_uc004ecr.2_Missense_Mutation_p.H690Y|ATRX_uc010nlx.1_Missense_Mutation_p.H729Y|ATRX_uc010nly.1_Missense_Mutation_p.H703Y	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	758					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGGTTTGTATGAATTTCATTA	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							153			14		0	0	0.001855	0	0
HHEX	3087	broad.mit.edu	37	10	94450089	94450089	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:94450089C>T	uc001kid.3	+	0	409	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	116	Pro-rich.				B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						CGCCCTGCTCCGCCACGACCC	0.776000														72			6		0	0	0.001984	0	0
MAP1A	4130	broad.mit.edu	37	15	43814443	43814443	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:43814443C>T	uc001zrt.3	+	3	1239	c.772C>T	c.(772-774)Ccc>Tcc	p.P258S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	258						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	ACCAGCCAATCCCACTGAGAA	0.532000														48			9		0	0	0.000443	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286856	55286856	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:55286856G>C	uc010erz.1	+	3	648	c.610G>C	c.(610-612)Gac>Cac	p.D204H	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.D204H	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	204	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCTTTCCATGACTCTCCATA	0.562000														40			7		0	0	0.003080	0	0
CADPS	8618	broad.mit.edu	37	3	62477975	62477975	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:62477975G>A	uc003dll.2	-	19	3234	c.2874C>T	c.(2872-2874)ctC>ctT	p.L958L	CADPS_uc003dlk.1_Silent_p.L455L|CADPS_uc003dlm.2_Silent_p.L968L|CADPS_uc003dln.2_Silent_p.L928L|CADPS_uc021wzv.1_Silent_p.L998L	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	958	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.S957R(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTCAGTACGGAGAAAATCAT	0.433000														93			7		0	0	0.004482	0	0
TIE1	7075	broad.mit.edu	37	1	43777423	43777423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:43777423C>T	uc001ciu.3	+	9	1592	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F	TIE1_uc010okd.2_Missense_Mutation_p.S472F|TIE1_uc010oke.2_Missense_Mutation_p.S427F|TIE1_uc009vwq.3_Missense_Mutation_p.S428F|TIE1_uc010okf.1_Missense_Mutation_p.S117F|TIE1_uc010okg.2_Missense_Mutation_p.S117F	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	472	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTCTCGTTCTCTGGGGATGGA	0.657000														31			5		0	0	0.000602	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162072	142162072	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142162072G>A	uc011krx.2	-	1	218	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.S68L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		AGCACCAACTGAATAATAAAT	0.493000														44			12		0	0	0.001368	0	0
NBEAL1	65065	broad.mit.edu	37	2	204016255	204016255	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:204016255G>T	uc002uzt.3	+	33	5776	c.5443G>T	c.(5443-5445)Gta>Tta	p.V1815L	NBEAL1_uc021vvj.1_Missense_Mutation_p.V518L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1815							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTTAAGCTGGTACCGAATTA	0.348000														176			22		5.35047e-06	1.12717e-05	0.003330	1	0
OR8G2	26492	broad.mit.edu	37	11	124096005	124096005	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:124096005C>T	uc010saf.2	+	0	608	c.608C>T	c.(607-609)tCc>tTc	p.S203F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	203						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CTCTCCTGCTCCAGCACCTAC	0.423000														73			9		0	0	0.004482	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187688	140187688	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140187688G>A	uc003lhi.2	+	0	1017	c.916G>A	c.(916-918)Gga>Aga	p.G306R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.G306R|PCDHAC2_uc011daa.2_Missense_Mutation_p.G306R	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	321	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGTAAAGGGATATATTGA	0.348000														79			6		0	0	0.001984	0	0
KDM5C	8242	broad.mit.edu	37	X	53223707	53223707	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:53223707G>A	uc004drz.3	-	22	4185	c.3652C>T	c.(3652-3654)Cgc>Tgc	p.R1218C	KDM5C_uc022bxe.1_Missense_Mutation_p.R1151C|KDM5C_uc004dsa.3_Missense_Mutation_p.R1217C|AY927613_uc004dsb.1_Non-coding_Transcript	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1218					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CTGAGGAGGCGAGGCACTGAC	0.607000			"""N, F, S"""		clear cell renal carcinoma									11			4		0	0	0.000248	0	0
ANKRD7	56311	broad.mit.edu	37	7	117865010	117865010	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:117865010G>A	uc003vji.3	+	0	299	c.126G>A	c.(124-126)aaG>aaA	p.K42K		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	42					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						AGAAGCTGAAGGAATACCTTC	0.483000														71			11		0	0	0.002450	0	0
ABCF1	23	broad.mit.edu	37	6	30551480	30551480	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:30551480C>T	uc003nql.3	+	10	1106	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ABCF1_uc003nqk.2_Silent_p.P338P|ABCF1_uc003nqm.3_Silent_p.P299P|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	337	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGTAGGACCCAATGGGTGAG	0.547000														30			5		0	0	0.000602	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943653	26943653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:26943653G>A	uc002hbu.3	-	34	6243	c.6140C>T	c.(6139-6141)tCc>tTc	p.S2047F	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Non-coding_Transcript|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2047						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACCAGTTTGGACTTATCCTC	0.478000														57			7		0	0	0.003080	0	0
FAT4	79633	broad.mit.edu	37	4	126411106	126411106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:126411106C>T	uc003ifj.4	+	16	13129	c.13129C>T	c.(13129-13131)Cct>Tct	p.P4377S	FAT4_uc011cgp.2_Missense_Mutation_p.P2618S|FAT4_uc003ifi.1_Missense_Mutation_p.P1854S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4377	Laminin G-like 2.				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						AGAAAGTCTTCCTTTCAGCGG	0.458000														96			8		0	0	0.003080	0	0
USP7	7874	broad.mit.edu	37	16	8988992	8988992	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:8988992G>A	uc002czl.2	-	27	3134	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	USP7_uc010uyk.1_Nonsense_Mutation_p.Q880*|USP7_uc010uyj.1_Nonsense_Mutation_p.Q880*|USP7_uc002czk.2_Nonsense_Mutation_p.Q963*	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	979					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATGTCCACCTGGTCCAAAGGG	0.468000														109			7		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	22	23077577	23077577	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:23077577C>T	uc021wml.1	+	228		c.11498_splice	c.e228+1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		GCAGCACTTTCCACAGAGGTC	0.577000														39			7		0	0	0.001984	0	0
HNF1B	6928	broad.mit.edu	37	17	36091761	36091761	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:36091761C>T	uc002hok.4	-	3	1091	c.870G>A	c.(868-870)ttG>ttA	p.L290L	HNF1B_uc021tvu.1_Silent_p.L60L|HNF1B_uc010wdi.2_Silent_p.L264L|HNF1B_uc021tvv.1_Silent_p.L290L|HNF1B_uc021tvw.1_Silent_p.L264L|HNF1B_uc010cve.1_Silent_p.L98L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	290					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCTCAGTGACCAAGTTGGAGC	0.602000														206			13		0	0	0.001368	0	0
NLRP4	147945	broad.mit.edu	37	19	56370027	56370027	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56370027G>A	uc002qmd.4	+	2	1690	c.1268G>A	c.(1267-1269)gGg>gAg	p.G423E	NLRP4_uc002qmf.3_Missense_Mutation_p.G348E|NLRP4_uc010etf.3_Missense_Mutation_p.G254E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	423	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)		CGGAGAAATGGGGTTGTTGAC	0.567000														54			5		0	0	0.001168	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869597	151869597	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151869597G>C	uc022chf.1	+	0	287	c.287G>C	c.(286-288)aGc>aCc	p.S96T	MAGEA6_uc004ffq.1_Missense_Mutation_p.S96T|MAGEA6_uc004ffr.1_Missense_Mutation_p.S96T	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	96							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGCCAAGCACCTTCCCT	0.567000														56			4		0	0	0.000602	0	0
CNTN5	53942	broad.mit.edu	37	11	100169975	100169975	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:100169975G>A	uc001pga.3	+	19	2971	c.2467G>A	c.(2467-2469)Gaa>Aaa	p.E823K	CNTN5_uc001pfz.3_Missense_Mutation_p.E823K|CNTN5_uc021qpb.1_Missense_Mutation_p.E823K|CNTN5_uc021qpc.1_Missense_Mutation_p.E749K|CNTN5_uc010ruk.2_Missense_Mutation_p.E94K	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	823	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E823K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGCTGGAAGGAAAAAATGGT	0.408000														5			3		0	0	0.004672	0	0
SPANXC	64663	broad.mit.edu	37	X	140335736	140335736	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140335736C>T	uc004fbk.3	-	1	264	c.208G>A	c.(208-210)Gac>Aac	p.D70N	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	70						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CGGGCGTGGTCATTCAGCAGT	0.453000														180			10		0	0	0.001368	0	0
LAMA2	3908	broad.mit.edu	37	6	129634166	129634166	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:129634166G>A	uc021zfb.1	+	22	3440	c.3335G>A	c.(3334-3336)gGg>gAg	p.G1112E	LAMA2_uc003qbn.3_Missense_Mutation_p.G1112E|LAMA2_uc003qbo.3_Missense_Mutation_p.G1112E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1112	Laminin EGF-like 13.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTCCTCCCTGGGACAGATGCC	0.483000														42			4		0	0	0.000248	0	0
ELF4	2000	broad.mit.edu	37	X	129203370	129203370	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:129203370C>T	uc004evd.4	-	7	1477	c.1092G>A	c.(1090-1092)ctG>ctA	p.L364L	ELF4_uc004eve.4_Silent_p.L364L	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	364					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GTCCCAATTCCAGACTCGCAG	0.582000			T	ERG	AML									86			13		0	0	0.001855	0	0
MTM1	4534	broad.mit.edu	37	X	149787544	149787544	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:149787544G>A	uc004fef.4	+	5	452	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.E89K|MTM1_uc011mxz.2_Missense_Mutation_p.E11K|MTM1_uc010nte.3_Intron	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	126					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAAACAGGAAGGCCACAG	0.468000														49			6		0	0	0.001984	0	0
CASP4	837	broad.mit.edu	37	11	104825696	104825696	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:104825696A>G	uc001pid.1	-	1	113	c.40T>C	c.(40-42)Ttg>Ctg	p.L14L	CASP4_uc001pib.1_5'UTR|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Silent_p.L14L|CASP4_uc010ruy.1_Silent_p.L14L	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	14	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		AGGGATTCCAACACCTTAAGT	0.383000														23			6		0	0	0.001168	0	0
MLF2	8079	broad.mit.edu	37	12	6861215	6861215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:6861215G>A	uc010sfi.2	-	2	119	c.56C>T	c.(55-57)cCc>cTc	p.P19L	MLF2_uc001qqp.3_Missense_Mutation_p.P19L|MLF2_uc009zey.1_Missense_Mutation_p.P19L	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	19					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AATAGCAAAGGGATCCCTGTG	0.522000											OREG0021633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			5		0	0	0.001168	0	0
PAK7	57144	broad.mit.edu	37	20	9547014	9547014	+	Silent	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:9547014T>G	uc002wnl.2	-	5	1553	c.1008A>C	c.(1006-1008)gcA>gcC	p.A336A	PAK7_uc002wnk.2_Silent_p.A336A|PAK7_uc002wnj.2_Silent_p.A336A|PAK7_uc010gby.1_Silent_p.A336A	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	336	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGACCATCTGTGCTCGATCGT	0.532000														58			5		0	0	0.000602	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394292	233394292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:233394292C>T	uc001hvl.2	-	4	1551	c.1316G>A	c.(1315-1317)gGg>gAg	p.G439E	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	439						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTCCTCCCCCACCCTCAGG	0.562000														45			4		0	0	0.001168	0	0
ZNF239	8187	broad.mit.edu	37	10	44053048	44053048	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:44053048C>T	uc001jaw.4	-	1	1133	c.480G>A	c.(478-480)tgG>tgA	p.W160*	ZNF239_uc001jax.4_Nonsense_Mutation_p.W160*|ZNF239_uc009xmj.3_Nonsense_Mutation_p.W160*|ZNF239_uc009xmk.3_Nonsense_Mutation_p.W160*|ZNF239_uc021pph.1_Nonsense_Mutation_p.W160*	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CCTGTGATTTCCATCCATGAA	0.448000														41			6		0	0	0.001168	0	0
CARD6	84674	broad.mit.edu	37	5	40853995	40853995	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:40853995C>T	uc003jmg.3	+	2	2636	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	854					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CACTCCTATTCCCTGGATTCA	0.502000														68			15		0	0	0.000958	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409754	69409754	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:69409754C>T	uc002sfg.3	+	15	1671	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	439					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.R438R(1)|p.R439Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAATATGCGTCGGCCTTCTTC	0.438000									Familial Infantile Hemangioma					45			6		0	0	0.001168	0	0
LHFPL1	340596	broad.mit.edu	37	X	111874653	111874653	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:111874653G>A	uc004epp.3	-	2	800	c.727C>T	c.(727-729)Cct>Tct	p.P243S	LHFPL1_uc004epq.3_Missense_Mutation_p.P220S|LHFPL1_uc010nqa.3_Non-coding_Transcript|LHFPL1_uc010nqb.3_Missense_Mutation_p.P187S	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	220						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						AAAGCTCAAGGTTTGAGGCAA	0.463000														49			6		0	0	0.001984	0	0
SETDB2	83852	broad.mit.edu	37	13	50062649	50062649	+	Silent	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:50062649T>C	uc001vcz.3	+	12	2742	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	SETDB2_uc010adh.2_3'UTR|SETDB2_uc001vda.3_Silent_p.D600D	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	612	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TATTTTGTGATGAAGAGTTGC	0.358000														41			4		0	0	0.000248	0	0
DNTT	1791	broad.mit.edu	37	10	98078267	98078267	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98078267G>A	uc001kmf.3	+	1	532	c.362G>A	c.(361-363)gGa>gAa	p.G121E	DNTT_uc001kmg.3_Missense_Mutation_p.G121E	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	121	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T120A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GAAATGACAGGAAAACACCAG	0.468000														20			4		0	0	0.000602	0	0
MME	4311	broad.mit.edu	37	3	154801990	154801990	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:154801990G>A	uc010hvr.1	+	1	245	c.34G>A	c.(34-36)Gat>Aat	p.D12N	MME_uc003fab.1_Missense_Mutation_p.D12N|MME_uc003fac.1_Missense_Mutation_p.D12N|MME_uc003fad.1_Missense_Mutation_p.D12N|MME_uc003fae.1_Missense_Mutation_p.D12N	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	12					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGATATAACTGATATCAACAC	0.383000														71			7		0	0	0.004482	0	0
CCDC13	152206	broad.mit.edu	37	3	42774963	42774963	+	Splice_Site	SNP	G	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:42774963G>C	uc003cly.4	-	11	1595	c.1511_splice	c.e11+1	p.R504_splice		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	504										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTTTCTTACCGAGAAGATCCA	0.537000														119			12		0	0	0.001855	0	0
KIAA0947	23379	broad.mit.edu	37	5	5462565	5462565	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:5462565A>T	uc003jdm.4	+	12	3340	c.3118A>T	c.(3118-3120)Agc>Tgc	p.S1040C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1040										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATTCTACCAGCACACCACA	0.473000														82			6		0	0	0.001984	0	0
IQUB	154865	broad.mit.edu	37	7	123092907	123092907	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:123092907G>A	uc003vkn.3	-	12	2843	c.2266C>T	c.(2266-2268)Cca>Tca	p.P756S	IQUB_uc011kny.2_Missense_Mutation_p.P89S|IQUB_uc003vko.3_Missense_Mutation_p.P756S|IQUB_uc010lkt.3_Non-coding_Transcript	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	756										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GCCAGCACTGGAACCTGAGAA	0.368000														21			4		0	0	0.000602	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921604	47921604	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:47921604G>A	uc003tny.2	-	19	3379	c.3345C>T	c.(3343-3345)gaC>gaT	p.D1115D		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1115	REJ.				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						ACAGGGAGGGGTCCACCAGGT	0.567000														32			8		0	0	0.003080	0	0
ZNF667	63934	broad.mit.edu	37	19	56952566	56952566	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:56952566G>A	uc002qne.3	-	6	2589	c.1798C>T	c.(1798-1800)Cga>Tga	p.R600*	ZNF667_uc010etl.3_Nonsense_Mutation_p.R382*|ZNF667_uc002qnd.3_Nonsense_Mutation_p.R600*|ZNF667_uc010etm.3_Nonsense_Mutation_p.R543*	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TTCTGATGTCGAATCAGGGAT	0.368000														56			6		0	0	0.003080	0	0
PRPF8	10594	broad.mit.edu	37	17	1577966	1577966	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:1577966G>A	uc002fte.3	-	20	3183	c.3069C>T	c.(3067-3069)aaC>aaT	p.N1023N		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1023						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AATTCGTATGGTTCATGTCCT	0.438000														95			9		0	0	0.000673	0	0
ZFHX3	463	broad.mit.edu	37	16	72829865	72829865	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:72829865C>T	uc002fck.3	-	8	7389	c.6716G>A	c.(6715-6717)tGg>tAg	p.W2239*	ZFHX3_uc002fcl.3_Nonsense_Mutation_p.W1325*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2239					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)				CTTGCTTCCCCAGTACTCCTG	0.512000														72			8		0	0	0.003080	0	0
TNXB	7148	broad.mit.edu	37	6	32039861	32039861	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:32039861G>A	uc003nzl.2	-	12	5098	c.4896C>T	c.(4894-4896)atC>atT	p.I1632I		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1714	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCAGGTCAGGGATAGTGACCT	0.592000														94			11		0	0	0.000673	0	0
WFDC9	259240	broad.mit.edu	37	20	44236765	44236765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:44236765G>A	uc002xoy.3	-	4	472	c.254C>T	c.(253-255)tCa>tTa	p.S85L		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	85						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GTTTAGCATTGATTTAAGGGG	0.428000														99			10		0	0	0.001368	0	0
CD3E	916	broad.mit.edu	37	11	118184537	118184537	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:118184537G>A	uc001psq.4	+	6	724	c.468G>A	c.(466-468)aaG>aaA	p.K156K		NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	156					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	AGAATAGAAAGGCCAAGGCCA	0.567000														20			4		0	0	0.000248	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462044	50462044	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:50462044C>T	uc010ybh.2	-	6	1310	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G407R	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	407	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ACGGTCTGTCCCCACCGGGTC	0.682000														47			4		0	0	0.000248	0	0
FGFR2	2263	broad.mit.edu	37	10	123256058	123256058	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:123256058C>A	uc021pzz.1	-	12	2498	c.1851G>T	c.(1849-1851)ttG>ttT	p.L617F	FGFR2_uc021pzv.1_Missense_Mutation_p.L505F|FGFR2_uc021pzw.1_Missense_Mutation_p.L502F|FGFR2_uc021pzx.1_Missense_Mutation_p.L528F|FGFR2_uc021pzy.1_Missense_Mutation_p.L618F|FGFR2_uc010qtl.2_Missense_Mutation_p.L501F|FGFR2_uc010qtm.2_Missense_Mutation_p.L500F|FGFR2_uc021qaa.1_Missense_Mutation_p.L618F|FGFR2_uc021qab.1_Missense_Mutation_p.L529F|FGFR2_uc021qac.1_Missense_Mutation_p.L546F|FGFR2_uc001lfg.4_Missense_Mutation_p.L225F	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	617	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTGGGAAGCCAAGTACTCCA	0.453000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					151			15		1.01871e-10	2.14847e-10	0.001216	1	0
TANC1	85461	broad.mit.edu	37	2	160027239	160027239	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:160027239C>T	uc002uag.3	+	9	1548	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	TANC1_uc010fol.1_Missense_Mutation_p.S319F|TANC1_uc010zcm.2_Missense_Mutation_p.S417F|TANC1_uc010fom.1_Missense_Mutation_p.S231F	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	425						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAATCATTTCCAAGTTGGTG	0.498000														47			5		0	0	0.000602	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110033590	110033590	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110033590C>T	uc001dxr.3	+	9	1420	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	ATXN7L2_uc001dxs.3_Missense_Mutation_p.P96S	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	469										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTCAACTCCCCGTTATCTGC	0.607000											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			10		0	0	0.000978	0	0
COL6A6	131873	broad.mit.edu	37	3	130283963	130283963	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:130283963G>A	uc010htl.3	+	2	818	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	263	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGACATAAAGGAAAATTGCAT	0.393000														107			10		0	0	0.000978	0	0
AUTS2	26053	broad.mit.edu	37	7	70246732	70246732	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:70246732C>T	uc003tvw.4	+	14	2871	c.2136C>T	c.(2134-2136)ttC>ttT	p.F712F	AUTS2_uc003tvx.4_Silent_p.F688F|AUTS2_uc011keg.2_Silent_p.F164F	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	712										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACTTTGTTCTCTGCCGCTG	0.552000														43			7		0	0	0.003080	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716078	13716078	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:13716078T>C	uc001rbt.2	-	12	4273	c.4094A>G	c.(4093-4095)aAc>aGc	p.N1365S		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1365					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCGGGGTTGTTGTGGTGGTG	0.592000														29			5		0	0	0.000602	0	0
KLHL13	90293	broad.mit.edu	37	X	117043429	117043429	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117043429C>T	uc011mtp.2	-	5	1343	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	KLHL13_uc004eqk.3_Missense_Mutation_p.D350N|KLHL13_uc004eql.3_Missense_Mutation_p.D401N|KLHL13_uc011mtn.2_Missense_Mutation_p.D241N|KLHL13_uc011mto.2_Missense_Mutation_p.D395N|KLHL13_uc011mtq.2_Missense_Mutation_p.D385N|KLHL13_uc004eqm.3_Missense_Mutation_p.D359N|KLHL13_uc022cde.1_Missense_Mutation_p.D385N	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	401					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.G404E(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCTTTTGTATCATAATTACTC	0.428000														33			6		0	0	0.001984	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459244	92459244	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:92459244G>A	uc002bqx.2	+	1	403	c.202G>A	c.(202-204)Gag>Aag	p.E68K	SLCO3A1_uc002bqy.2_Missense_Mutation_p.E68K|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.E10K	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	68					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GACCACCCTGGAGCGTAGGTT	0.607000														28			5		0	0	0.001984	0	0
AHNAK	79026	broad.mit.edu	37	11	62290119	62290119	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:62290119G>A	uc001ntl.3	-	4	12070	c.11770C>T	c.(11770-11772)Cga>Tga	p.R3924*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3924					nervous system development	nucleus	protein binding	p.R3924L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGGCCTCGAACATCCACA	0.483000														133			8		0	0	0.004482	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65715022	65715022	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:65715022G>A	uc001ogk.1	+	3	755	c.723G>A	c.(721-723)tcG>tcA	p.S241S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	242										endometrium(2)|kidney(3)|lung(9)	14						GGAGGGGGTCGATCTCAGAGG	0.642000														36			8		0	0	0.004482	0	0
OR5K3	403277	broad.mit.edu	37	3	98110187	98110187	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:98110187G>A	uc011bgw.2	+	0	678	c.678G>A	c.(676-678)atG>atA	p.M226I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATTTACAATGAAATCCAAGG	0.343000														44			6		0	0	0.001984	0	0
SCN2A	6326	broad.mit.edu	37	2	166172019	166172019	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:166172019C>T	uc002udc.3	+	10	1712	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	SCN2A_uc002udd.3_Silent_p.F474F|SCN2A_uc002ude.3_Silent_p.F474F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	474					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)	CAAGAGACTTCAGTGGTGCTG	0.408000														34			6		0	0	0.004482	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143829	91143829	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:91143829C>T	uc001kgh.3	+	1	839	c.759C>T	c.(757-759)gtC>gtT	p.V253V	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1B (IFIT1B), mRNA.	253							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AGGCCTATGTCTTTCAATATG	0.453000														109			7		0	0	0.003080	0	0
TLL2	7093	broad.mit.edu	37	10	98180773	98180773	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98180773G>A	uc001kml.2	-	6	1104	c.863C>T	c.(862-864)tCt>tTt	p.S288F	TLL2_uc009xvf.2_Missense_Mutation_p.S236F	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	288	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CTCTCCCAGAGAGCTCACTTC	0.468000														45			7		0	0	0.003080	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874693	75874693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:75874693G>A	uc001sxs.3	+	0	181	c.33G>A	c.(31-33)atG>atA	p.M11I	GLIPR1_uc009zsb.1_Missense_Mutation_p.M11I	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	11					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TAGCCTGGATGGTTTCTTTTG	0.453000														25			7		0	0	0.003080	0	0
KIF1B	23095	broad.mit.edu	37	1	10405970	10405970	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:10405970C>T	uc001aqx.4	+	34	3958	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	KIF1B_uc001aqw.4_Silent_p.L1206L|KIF1B_uc001aqy.3_Silent_p.L1226L|KIF1B_uc001aqz.3_Silent_p.L1252L|KIF1B_uc001ara.3_Silent_p.L1212L|KIF1B_uc001arb.3_Silent_p.L1238L	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1252					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTATGACCTCCTGGTTTGGT	0.378000														38			4		0	0	0.000602	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887060	1887060	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:1887060G>A	uc001aim.1	-	17	2402	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	KIAA1751_uc009vkz.1_Intron	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	749										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GGGCCCCTCAGCCCCCTGGAA	0.592000														73			7		0	0	0.001984	0	0
DLX2	1746	broad.mit.edu	37	2	172966262	172966262	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:172966262G>A	uc002uhn.3	-	1	725	c.513C>T	c.(511-513)ttC>ttT	p.F171F	DLX2_uc010zdx.1_Silent_p.F171F	NM_004405	NP_004396	Q07687	DLX2_HUMAN	Homo sapiens distal-less homeobox 2 (DLX2), mRNA.	171						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAGTCTTTTGGAAACGCCGCT	0.612000														22			5		0	0	0.000602	0	0
LEPR	3953	broad.mit.edu	37	1	66075946	66075946	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:66075946G>A	uc001dci.3	+	13	2351	c.1962G>A	c.(1960-1962)atG>atA	p.M654I	LEPR_uc001dcg.3_Missense_Mutation_p.M654I|LEPR_uc001dch.3_Missense_Mutation_p.M654I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.M654I|LEPR_uc001dcj.3_Missense_Mutation_p.M654I|LEPR_uc001dck.3_Missense_Mutation_p.M654I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	654	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGATACTATGAAAAAGGAGA	0.284000														38			11		0	0	0.000978	0	0
C10orf12	26148	broad.mit.edu	37	10	98743944	98743944	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:98743944C>T	uc001kmv.3	+	0	2904	c.2797C>T	c.(2797-2799)Cct>Tct	p.P933S		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	933										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAGAAATTTCCTGGAGCTAC	0.473000														51			7		0	0	0.004482	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394693	233394693	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:233394693C>T	uc001hvl.2	-	4	1150	c.915G>A	c.(913-915)caG>caA	p.Q305Q	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	305						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCAGGCTGTCCTGAGGTGACT	0.577000														37			7		0	0	0.003080	0	0
CCR5	1234	broad.mit.edu	37	3	46415421	46415421	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:46415421C>T	uc003cpo.4	+	2	1150	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	CCR5_uc010hjd.3_Missense_Mutation_p.T343I|CCR5_uc021wxb.1_Missense_Mutation_p.T343I	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	343					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCCGATCCACTGGGGAGCAG	0.512000														38			5		0	0	0.000602	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494401	20494401	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:20494401C>T	uc010bwe.3	+	13	1770	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	ACSM2A_uc002dhf.4_Silent_p.L511L|ACSM2A_uc002dhg.4_Silent_p.L511L|ACSM2A_uc010vay.2_Silent_p.L432L|ACSM2A_uc002dhh.4_Silent_p.L141L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	511					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATTTGTGGTCCTGGCCTCGCA	0.493000														56			7		0	0	0.001984	0	0
SDR42E1	93517	broad.mit.edu	37	16	82032905	82032905	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:82032905C>T	uc002fgu.3	-	2	1121	c.993G>A	c.(991-993)aaG>aaA	p.K331K		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	331					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTAGCTCTTTCTTGGCTTTCT	0.458000														63			8		0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100829870	100829870	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:100829870C>T	uc003yiv.3	+	44	8386	c.8275C>T	c.(8275-8277)Cgg>Tgg	p.R2759W	VPS13B_uc003yiw.3_Missense_Mutation_p.R2734W	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2759					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTGTAGTTCGGGAACATTT	0.418000														46			5		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176128	140176128	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140176128G>A	uc003lhd.2	+	0	1685	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E527K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E527K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.687000														57			5		0	0	0.000602	0	0
OR10A2	341276	broad.mit.edu	37	11	6891596	6891596	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:6891596C>T	uc001meu.1	+	0	611	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 2 (OR10A2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATCTTGTGTTCCTATACTCAC	0.488000														113			7		0	0	0.004482	0	0
GBP5	115362	broad.mit.edu	37	1	89735113	89735113	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:89735113C>T	uc001dnc.3	-	2	663	c.126G>A	c.(124-126)gcG>gcA	p.A42A	GBP5_uc001dnd.3_Silent_p.A42A|GBP5_uc001dne.1_Silent_p.A42A	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	42						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCCCACAATCGCTACCACAA	0.502000														61			7		0	0	0.003080	0	0
METTL2B	55798	broad.mit.edu	37	7	128120717	128120717	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:128120717G>A	uc003vnf.3	+	3	612	c.575G>A	c.(574-576)gGa>gAa	p.G192E	METTL2B_uc003vng.3_Missense_Mutation_p.G127E|METTL2B_uc011kop.2_Missense_Mutation_p.G56E	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	192							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGTGGTGTGGGAAACACAGTC	0.363000														56			12		0	0	0.003163	0	0
ABCD2	225	broad.mit.edu	37	12	39997808	39997808	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:39997808C>T	uc001rmb.2	-	5	1832	c.1406_splice	c.e5-1	p.G469_splice		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	469					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AATAACTTTTCCTGTAATTAA	0.313000														37			4		0	0	0.000248	0	0
ACTL6B	51412	broad.mit.edu	37	7	100244237	100244237	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100244237C>T	uc003uvy.3	-	11	1157	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	ACTL6B_uc003uvz.3_Non-coding_Transcript	NM_016188	NP_057272	O94805	ACL6B_HUMAN	Homo sapiens actin-like 6B (ACTL6B), mRNA.	350					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	SWI/SNF complex|nBAF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GCAGTGTGTTCCCGCCGGTGA	0.657000														27			4		0	0	0.000602	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603145	111603145	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:111603145C>T	uc010hqa.3	+	1	632	c.221C>T	c.(220-222)cCt>cTt	p.P74L	PHLDB2_uc003dyc.3_Missense_Mutation_p.P101L|PHLDB2_uc003dyd.3_Missense_Mutation_p.P74L|PHLDB2_uc003dyg.3_Missense_Mutation_p.P74L|PHLDB2_uc003dyh.3_Missense_Mutation_p.P74L|PHLDB2_uc003dye.4_Missense_Mutation_p.P74L|PHLDB2_uc003dyf.4_Missense_Mutation_p.P74L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	74						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGCCCTTCTCCTTTGGGAACC	0.443000														92			10		0	0	0.000443	0	0
ITK	3702	broad.mit.edu	37	5	156667190	156667190	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:156667190C>A	uc003lwo.1	+	9	1052	c.970C>A	c.(970-972)Caa>Aaa	p.Q324K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	324	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)			CAACTATCACCAACATAATGG	0.493000			T	SYK	peripheral T-cell lymphoma									168			11		0.00185496	0.00387335	0.001855	1	0
ASB15	142685	broad.mit.edu	37	7	123267301	123267301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:123267301C>T	uc003vku.1	+	8	1127	c.835C>T	c.(835-837)Cct>Tct	p.P279S	ASB15_uc003vkv.1_Missense_Mutation_p.P279S|ASB15_uc003vkw.1_Missense_Mutation_p.P279S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	279					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGACATCTTCCTATACACCG	0.433000														25			4		0	0	0.000248	0	0
PDE1C	5137	broad.mit.edu	37	7	31877507	31877507	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:31877507C>T	uc003tcm.2	-	9	1520	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	PDE1C_uc003tcn.1_Silent_p.K353K|PDE1C_uc003tco.2_Silent_p.K413K|PDE1C_uc003tcr.3_Silent_p.K353K|PDE1C_uc003tcs.3_Silent_p.K353K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	353	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCAGAGCAGTCTTCATTGCTT	0.433000														121			10		0	0	0.001368	0	0
OGN	4969	broad.mit.edu	37	9	95152158	95152158	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:95152158C>T	uc011ltx.2	-	4	762	c.662G>A	c.(661-663)gGa>gAa	p.G221E	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|OGN_uc004asa.3_Missense_Mutation_p.G203E|OGN_uc004asb.3_Missense_Mutation_p.G203E	NM_033014	NP_148935	P20774	MIME_HUMAN	Homo sapiens osteoglycin (OGN), transcript variant 1, mRNA.	203						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TGCTTTGATTCCCCTACTCTT	0.313000														74			7		0	0	0.001984	0	0
WDR60	55112	broad.mit.edu	37	7	158695278	158695278	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:158695278C>T	uc003woe.4	+	9	1507	c.1349C>T	c.(1348-1350)cCc>cTc	p.P450L	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_5'UTR	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	450										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		GAAAAGGAGCCCAGGACAGGT	0.428000														54			6		0	0	0.001168	0	0
CUL9	23113	broad.mit.edu	37	6	43172271	43172271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:43172271C>T	uc003ouk.3	+	20	4408	c.4333C>T	c.(4333-4335)Cgg>Tgg	p.R1445W	CUL9_uc003oul.3_Missense_Mutation_p.R1445W|CUL9_uc010jyk.3_Missense_Mutation_p.R597W	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1445					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCATCCACTCGGCCCTGTAA	0.592000														56			6		0	0	0.001168	0	0
OR5B2	390190	broad.mit.edu	37	11	58190129	58190129	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:58190129G>A	uc010rkg.2	-	0	658	c.606C>T	c.(604-606)agC>agT	p.S202S		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGATATTAAAGCTTGACATAA	0.373000														17			5		0	0	0.000602	0	0
OR13C5	138799	broad.mit.edu	37	9	107360965	107360965	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:107360965G>A	uc011lvp.2	-	0	730	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACAGTCAGACGAGCTGAGCAG	0.418000														28			5		0	0	0.000602	0	0
CNOT6L	246175	broad.mit.edu	37	4	78647417	78647417	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:78647417A>T	uc011ccd.2	-	10	1490	c.1359T>A	c.(1357-1359)aaT>aaA	p.N453K	CNOT6L_uc003hks.3_Missense_Mutation_p.N453K|CNOT6L_uc003hkt.1_Missense_Mutation_p.N296K	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	453					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CTGAGCTTCCATTCTTTCCAT	0.398000														85			9		0	0	0.000443	0	0
PRCP	5547	broad.mit.edu	37	11	82560137	82560137	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:82560137G>A	uc001ozs.3	-	5	988	c.875C>T	c.(874-876)cCt>cTt	p.P292L	PRCP_uc001ozr.3_Missense_Mutation_p.P313L	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	292	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGGCATAAGGATAGTCCAC	0.403000														31			5		0	0	0.000602	0	0
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:12187394T>C	uc002mtb.2	+	3	1602	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_uc010dym.1_Missense_Mutation_p.F330L	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F487L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448000														27			3		0	0	0.004672	0	0
UNC5D	137970	broad.mit.edu	37	8	35647876	35647876	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:35647876G>A	uc003xjr.2	+	17	2986	c.2658_splice	c.e17-1	p.R886_splice	UNC5D_uc003xjs.2_Splice_Site_p.R881_splice|UNC5D_uc003xju.2_Splice_Site_p.R462_splice|UNC5D_uc022atw.1_5'Flank	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	886	Death.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCTCCATCTAGGAATTTATCT	0.368000														40			4		0	0	0.001168	0	0
MYO9A	4649	broad.mit.edu	37	15	72190477	72190477	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:72190477G>A	uc002atl.4	-	24	4840	c.4367C>T	c.(4366-4368)aCt>aTt	p.T1456I	MYO9A_uc010biq.3_Missense_Mutation_p.T1076I|MYO9A_uc002atn.1_Missense_Mutation_p.T1437I|MYO9A_uc002atk.3_Missense_Mutation_p.T180I|MYO9A_uc002atm.1_Missense_Mutation_p.T180I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1456	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATATCCAAAGTAAGAGCTTC	0.403000														30			8		0	0	0.003080	0	0
A2M	2	broad.mit.edu	37	12	9265009	9265009	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:9265009G>A	uc001qvk.1	-	2	507	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	A2M_uc009zgk.1_Intron	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	132					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTGTCTGTCTGGACAAAGACC	0.458000														18			4		0	0	0.000248	0	0
TMEM168	64418	broad.mit.edu	37	7	112423814	112423814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:112423814G>A	uc003vgn.3	-	1	1459	c.1067C>T	c.(1066-1068)tCa>tTa	p.S356L	TMEM168_uc010lju.3_Missense_Mutation_p.S356L|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	356						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAACTGCTCTGAAATCAAGCA	0.413000														106			10		0	0	0.000673	0	0
BRAT1	221927	broad.mit.edu	37	7	2577997	2577997	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:2577997G>A	uc003smi.3	-	13	2460	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	BRAT1_uc003smh.4_Silent_p.L156L	NM_152743	NP_689956	Q6PJG6	BRAT1_HUMAN	Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA.	724					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCCTCAGGAAGAGAAGGAGGT	0.637000														38			10		0	0	0.000978	0	0
HIF1AN	55662	broad.mit.edu	37	10	102296354	102296354	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:102296354G>A	uc001krj.4	+	1	439	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit inhibitor (HIF1AN), mRNA.	122	Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CAACAGGGAAGAAATGAAATT	0.428000														42			7		0	0	0.003080	0	0
CCDC19	25790	broad.mit.edu	37	1	159850356	159850356	+	Silent	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159850356G>T	uc001fui.3	-	7	1050	c.1032C>A	c.(1030-1032)acC>acA	p.T344T	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Silent_p.T259T|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Silent_p.T330T	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	344						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTTCTTCTTGGTAAACTCCA	0.488000														48			7		0.00448238	0.00928808	0.004482	1	0
CYP4A11	1579	broad.mit.edu	37	1	47403795	47403795	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:47403795C>T	uc001cqp.4	-	1	261	c.210G>A	c.(208-210)caG>caA	p.Q70Q	CYP4A11_uc001cqq.2_Silent_p.Q70Q|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	70					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTTGTAGCTCCTGGTCCTGTT	0.502000														53			6		0	0	0.003080	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102368098	102368098	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:102368098C>T	uc001yko.3	+	8	1035	c.895C>T	c.(895-897)Cca>Tca	p.P299S	PPP2R5C_uc010txr.2_Missense_Mutation_p.P330S|PPP2R5C_uc001ykk.3_Missense_Mutation_p.P354S|PPP2R5C_uc010txt.2_Missense_Mutation_p.P289S|PPP2R5C_uc001ykn.3_Missense_Mutation_p.P299S|PPP2R5C_uc001ykp.3_Missense_Mutation_p.P299S|PPP2R5C_uc001ykq.3_Missense_Mutation_p.P197S	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	299					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GACTCACAGTCCAAAAGAAGT	0.448000														51			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179638755	179638755	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179638755G>A	uc021vsy.1	-	30	7365	c.7140C>T	c.(7138-7140)tcC>tcT	p.S2380S	TTN_uc021vsz.1_Silent_p.S2334S|TTN_uc021vta.1_Silent_p.S2334S|TTN_uc021vtb.1_Silent_p.S2334S|TTN_uc002unb.2_Silent_p.S2380S|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2380	Ig-like 13.						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)			CACTTTCCAAGGAGACTTTAA	0.473000														38			6		0	0	0.001168	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:34851465C>T	uc003teh.1	+	3	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.F156F|NPSR1_uc010kwt.1_Silent_p.F3F|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.F156F|NPSR1_uc010kww.1_Silent_p.F145F|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000														50			6		0	0	0.001984	0	0
CES4A	283848	broad.mit.edu	37	16	67029622	67029622	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:67029622C>T	uc002eqv.3	+	1	334	c.219C>T	c.(217-219)gtC>gtT	p.V73V	CES4A_uc010vix.2_Silent_p.V50V|CES4A_uc002eqw.3_Silent_p.V10V	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	50						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						CCATCCAAGTCTTTTTAGGAG	0.532000														41			5		0	0	0.000602	0	0
HOXA5	3202	broad.mit.edu	37	7	27182905	27182905	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:27182905G>A	uc003syn.2	-	0	383	c.322C>T	c.(322-324)Ccc>Tcc	p.P108S	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	108					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CCGGGCGAGGGGGCCACGGCG	0.731000														32			5		0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179398792C>T	uc021vsy.1	-	306	95071	c.94846G>A	c.(94846-94848)Gaa>Aaa	p.E31616K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25311K|TTN_uc021vta.1_Missense_Mutation_p.E25244K|TTN_uc021vtb.1_Missense_Mutation_p.E25119K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32543							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403000														41			5		0	0	0.001168	0	0
CALCR	799	broad.mit.edu	37	7	93073039	93073039	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:93073039G>A	uc003umv.2	-	10	1081	c.781C>T	c.(781-783)Cag>Tag	p.Q261*	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Nonsense_Mutation_p.Q227*|CALCR_uc003umw.2_Nonsense_Mutation_p.Q227*	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	243					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R260W(1)|p.R260R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCATGTACTGGTGGAAAAAA	0.448000														27			4		0	0	0.000602	0	0
SPDYA	245711	broad.mit.edu	37	2	29038972	29038972	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:29038972C>T	uc002rmj.3	+	2	298	c.92C>T	c.(91-93)cCc>cTc	p.P31L	SPDYA_uc002rmi.3_Missense_Mutation_p.P31L|SPDYA_uc002rmk.3_Missense_Mutation_p.P31L|SPDYA_uc002rml.3_Missense_Mutation_p.P31L	NM_182756	NP_877433	Q5MJ70	SPDYA_HUMAN	Homo sapiens speedy homolog A (Xenopus laevis) (SPDYA), transcript variant 1, mRNA.	31					G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding	p.K30Q(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CCTAAAAAGCCCATTACTCTG	0.378000														58			9		0	0	0.000443	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296599	39296599	+	Silent	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:39296599T>C	uc010cxk.2	-	0	141	c.141A>G	c.(139-141)agA>agG	p.R47R		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R47K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACTGGGGTCTGCAGCAGC	0.682000														43			5		0	0	0.001984	0	0
ITGAD	3681	broad.mit.edu	37	16	31421742	31421742	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:31421742G>A	uc010cap.1	+	10	1159	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	ITGAD_uc002ebv.1_Silent_p.G370G	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	370					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G370E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCTGTGGGGAGCTTTAGCT	0.562000														49			5		0	0	0.000602	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077369	57077369	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:57077369G>A	uc001njr.3	-	4	3128	c.2816C>T	c.(2815-2817)aCc>aTc	p.T939I	TNKS1BP1_uc001njs.3_Missense_Mutation_p.T939I|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.T390I	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	939	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGCCATAGGTGCCGAGTGA	0.592000														66			9		0	0	0.000673	0	0
HNF1B	6928	broad.mit.edu	37	17	36064953	36064953	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:36064953G>A	uc002hok.4	-	5	1531	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L	HNF1B_uc021tvu.1_Missense_Mutation_p.P207L|HNF1B_uc010wdi.2_Missense_Mutation_p.P411L|HNF1B_uc021tvv.1_Missense_Mutation_p.P437L|HNF1B_uc021tvw.1_Missense_Mutation_p.P411L	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	437					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TCCAGAGAGGGGTGTCATGAT	0.483000														175			20		0	0	0.003954	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582578	120582578	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:120582578G>A	uc001txo.3	-	40	5230	c.5217C>T	c.(5215-5217)atC>atT	p.I1739I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1739					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGTAGCCACGATTTCTGGCA	0.507000														80			10		0	0	0.000978	0	0
ALB	213	broad.mit.edu	37	4	74283258	74283258	+	Missense_Mutation	SNP	C	T	T	rs78575701		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:74283258C>T	uc003hgs.4	+	10	1373	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ALB_uc011cbe.2_Missense_Mutation_p.R113C|ALB_uc003hgw.4_Missense_Mutation_p.R242C|ALB_uc011cbf.2_Missense_Mutation_p.R324C	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	434	Albumin 3.		R -> C (in Liprizzi).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTATTAGTTCGTTACACCAA	0.403000														23			5		0	0	0.000602	0	0
NPSR1	387129	broad.mit.edu	37	7	34884511	34884511	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:34884511G>A	uc003teh.1	+	6	889	c.761G>A	c.(760-762)gGg>gAg	p.G254E	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G254E|NPSR1_uc010kwt.1_Missense_Mutation_p.G101E|NPSR1_uc010kwu.1_Missense_Mutation_p.G44E|NPSR1_uc010kwv.1_Missense_Mutation_p.G188E|NPSR1_uc003tei.1_Missense_Mutation_p.G254E|NPSR1_uc010kww.1_Missense_Mutation_p.G243E|NPSR1_uc011kar.1_Missense_Mutation_p.G188E	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACAGATGGGAAACTGTGC	0.408000														28			9		0	0	0.000443	0	0
ELF2	1998	broad.mit.edu	37	4	140058853	140058853	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:140058853C>A	uc003ihp.1	-	1	254	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	1					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTGCTGATGTCATTGTTATTC	0.358000														71			7		0.000157383	0.000330453	0.003080	1	0
ZBTB33	10009	broad.mit.edu	37	X	119388445	119388445	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:119388445C>T	uc022cdm.1	+	0	1175	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	ZBTB33_uc010nqm.1_Missense_Mutation_p.S392L|ZBTB33_uc004esn.1_Missense_Mutation_p.S392L	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	392					Wnt receptor signaling pathway|intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTAAAAATTTCAGATATAATT	0.343000														66			6		0	0	0.001168	0	0
NOMO1	23420	broad.mit.edu	37	16	14972641	14972641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:14972641C>T	uc002dcv.3	+	22	2773	c.2707C>T	c.(2707-2709)Cgt>Tgt	p.R903C		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	903						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TGGCCTGTTTCGTTCCAACCT	0.532000														60			7		0	0	0.000673	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33623094	33623094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:33623094G>A	uc002xbk.3	-	7	917	c.883C>T	c.(883-885)Cct>Tct	p.P295S	TRPC4AP_uc010zuq.2_5'UTR|TRPC4AP_uc010zur.2_Missense_Mutation_p.P256S|TRPC4AP_uc002xbl.3_Missense_Mutation_p.P295S|TRPC4AP_uc002xbm.1_Missense_Mutation_p.P295S	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	295	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ACAAAGCCAGGAATGCTGAGA	0.498000														35			6		0	0	0.001984	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524815	26524815	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:26524815C>T	uc010oez.2	+	5	717	c.717C>T	c.(715-717)ttC>ttT	p.F239F	CATSPER4_uc010oey.1_Silent_p.F61F|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	239					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGTGCATTCGTGCCCAAGC	0.512000														119			11		0	0	0.001368	0	0
FOXJ2	55810	broad.mit.edu	37	12	8202049	8202049	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:8202049C>T	uc001qtu.3	+	8	2504	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	FOXJ2_uc001qtt.1_Silent_p.F473F	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	473					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCAACCACTTCCTTACTCAGA	0.572000														42			4		0	0	0.000602	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192396	123192396	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:123192396C>T	uc003ieh.3	+	44	7762	c.7717C>T	c.(7717-7719)Cgt>Tgt	p.R2573C	KIAA1109_uc003iel.1_Missense_Mutation_p.R508C|KIAA1109_uc003iek.2_Missense_Mutation_p.R1192C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2573					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCTTTGGTTCGTCTTATTCA	0.393000														53			6		0	0	0.001168	0	0
TCRB	0	broad.mit.edu	37	7	142120037	142120037	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142120037G>A	uc022anf.1	-	1	174	c.145C>T	c.(145-147)Cca>Tca	p.P49S	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCGAAATTGGATCACACCTG	0.488000														25			5		0	0	0.001168	0	0
ACTL9	284382	broad.mit.edu	37	19	8808130	8808130	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:8808130G>A	uc002mkl.2	-	0	1043	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	308						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GACAGCCCCGGGACCTCTGGG	0.637000														30			4		0	0	0.000248	0	0
MYH4	4622	broad.mit.edu	37	17	10357991	10357991	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:10357991C>T	uc002gmn.3	-	21	2683	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	858					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAAATTCTTCCTTCATGTTG	0.428000														77			6		0	0	0.001984	0	0
CCNB3	85417	broad.mit.edu	37	X	50054018	50054018	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:50054018C>T	uc004dox.4	+	5	3147	c.2849C>T	c.(2848-2850)gCc>gTc	p.A950V	CCNB3_uc004doy.3_Missense_Mutation_p.A950V|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	950					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.L949L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GAGCCATTAGCCTTACAAGAG	0.478000														41			5		0	0	0.000602	0	0
RNF122	79845	broad.mit.edu	37	8	33406331	33406331	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:33406331G>A	uc003xjo.1	-	5	810	c.408C>T	c.(406-408)ccC>ccT	p.P136P		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	136						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		GACTAGCAATGGGCTTGTTAC	0.527000														80			9		0	0	0.000443	0	0
ZBP1	81030	broad.mit.edu	37	20	56190020	56190020	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:56190020C>T	uc002xyo.3	-	3	706	c.425G>A	c.(424-426)cGa>cAa	p.R142Q	ZBP1_uc010gjm.3_Missense_Mutation_p.R142Q|ZBP1_uc002xyp.3_Missense_Mutation_p.R67Q|ZBP1_uc010zzn.2_Missense_Mutation_p.R142Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	142						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding	p.R142*(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GTACAAGTCTCGGTTCACATC	0.552000														72			6		0	0	0.001168	0	0
COL7A1	1294	broad.mit.edu	37	3	48623789	48623789	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:48623789G>T	uc003ctz.2	-	25	3527	c.3526C>A	c.(3526-3528)Ccc>Acc	p.P1176T		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1176	Nonhelical region (NC1).|VWFA 2.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACGGATGGGGCTGAATATG	0.582000														86			8		0.000157383	0.000330453	0.003080	1	0
OR10J3	441911	broad.mit.edu	37	1	159283514	159283514	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159283514G>A	uc010piu.2	-	0	936	c.936C>T	c.(934-936)tcC>tcT	p.S312S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTTCATTAAGGAGACAGAGT	0.418000														39			4		0	0	0.000248	0	0
ALOX15B	247	broad.mit.edu	37	17	7950292	7950292	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:7950292C>T	uc002gju.3	+	9	1471	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F	ALOX15B_uc002gjv.3_Missense_Mutation_p.S423F|ALOX15B_uc002gjw.3_Missense_Mutation_p.S423F|ALOX15B_uc010vun.2_Missense_Mutation_p.S452F|ALOX15B_uc010cnp.3_Missense_Mutation_p.S258F	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	452	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.S452F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTGAACTATTCTCTCCTGTGT	0.522000														30			4		0	0	0.000248	0	0
LRTM1	57408	broad.mit.edu	37	3	54952872	54952872	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54952872C>T	uc003dhl.3	-	2	786	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	218	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517000														22			4		0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9046048	9046048	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:9046048C>T	uc002mkp.3	-	4	35787	c.35583G>A	c.(35581-35583)atG>atA	p.M11861I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11863	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						AAGTTGGAATCATTGTGCTGG	0.493000														54			7		0	0	0.001984	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951413	30951413	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:30951413A>C	uc003aig.1	-	3	939	c.799T>G	c.(799-801)Tgc>Ggc	p.C267G	GAL3ST1_uc003aih.1_Missense_Mutation_p.C267G|GAL3ST1_uc003aii.1_Missense_Mutation_p.C267G|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C267G	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	267					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGCTCCCAGCACAGCAGGTCC	0.662000														39			4		0	0	0.000248	0	0
CDH18	1016	broad.mit.edu	37	5	19747232	19747232	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:19747232T>A	uc003jgd.3	-	3	876	c.342A>T	c.(340-342)aaA>aaT	p.K114N	CDH18_uc011cnm.2_Missense_Mutation_p.K114N|CDH18_uc003jgc.3_Missense_Mutation_p.K114N|CDH18_uc021xwu.1_Missense_Mutation_p.K114N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	114	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCTAGGCTTTTTGTTGAGT	0.443000														59			7		0	0	0.001984	0	0
P2RY6	5031	broad.mit.edu	37	11	73007869	73007869	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:73007869C>T	uc021qnb.1	+	0	306	c.306C>T	c.(304-306)gtC>gtT	p.V102V	P2RY6_uc001otm.3_Silent_p.V102V|P2RY6_uc001otn.3_Silent_p.V102V|P2RY6_uc001otq.3_Silent_p.V102V|P2RY6_uc001otr.3_Silent_p.V102V|P2RY6_uc001ots.3_Silent_p.V102V	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	102					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						GCCGCCTGGTCCGCTTCCTCT	0.622000														70			6		0	0	0.001168	0	0
RGS9	8787	broad.mit.edu	37	17	63186319	63186319	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:63186319G>A	uc002jfe.3	+	10	914	c.711G>A	c.(709-711)atG>atA	p.M237I	RGS9_uc021ubw.1_Missense_Mutation_p.M234I|RGS9_uc010dem.3_Missense_Mutation_p.M234I|RGS9_uc002jfd.3_Missense_Mutation_p.M234I|RGS9_uc002jfg.3_Missense_Mutation_p.M8I	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	237	G protein gamma.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AGGCCTTGATGAGGTCCACAG	0.473000														136			14		0	0	0.004007	0	0
TMTC3	160418	broad.mit.edu	37	12	88560199	88560199	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:88560199C>T	uc001tau.3	+	6	1110	c.890C>T	c.(889-891)cCt>cTt	p.P297L	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	297						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTATTAAATCCTTCAGAGCTC	0.393000														51			7		0	0	0.001984	0	0
IKZF2	22807	broad.mit.edu	37	2	214012517	214012517	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:214012517G>A	uc002vem.3	-	2	223	c.54C>T	c.(52-54)ccC>ccT	p.P18P	IKZF2_uc010fuu.3_Silent_p.P18P|IKZF2_uc002vej.3_5'UTR|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.P18P|IKZF2_uc002vel.3_5'UTR|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Silent_p.P18P|IKZF2_uc002ven.3_Silent_p.P18P	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GCTCCCTTTCGGGTGAAAGCT	0.398000														71			5		0	0	0.001168	0	0
OR2A25	392138	broad.mit.edu	37	7	143771496	143771496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143771496C>T	uc011ktx.2	+	0	184	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GTACTTCTTCCTCTCACACCT	0.577000														40			4		0	0	0.000248	0	0
OR2A12	346525	broad.mit.edu	37	7	143793007	143793007	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143793007G>A	uc011kty.2	+	0	807	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTCAAGAACGGAGGAAGATCC	0.527000														104			7		0	0	0.001984	0	0
HDHD3	81932	broad.mit.edu	37	9	116136431	116136431	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:116136431G>A	uc022bme.1	-	0	204	c.204C>T	c.(202-204)ggC>ggT	p.G68G	HDHD3_uc004bhi.1_Silent_p.G68G|HDHD3_uc004bhk.3_Silent_p.G68G	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	68							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GGGAGGTTAGGCCGTGGCTCA	0.637000														26			5		0	0	0.000602	0	0
TSPYL5	85453	broad.mit.edu	37	8	98288839	98288839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:98288839C>T	uc003yhy.3	-	0	1338	c.1234G>A	c.(1234-1236)Ggg>Agg	p.G412R		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	412					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding	p.P411P(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TGGCTCACCCCAGGCTGAGTA	0.522000														76			9		0	0	0.000443	0	0
SALL1	6299	broad.mit.edu	37	16	51173664	51173664	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:51173664G>A	uc021tif.1	-	1	2500	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	SALL1_uc021tid.1_Silent_p.N726N|SALL1_uc021tie.1_Silent_p.N823N|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	823					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CATCAGAGAAGTTGTCTAGGT	0.507000														104			9		0	0	0.000673	0	0
RP1L1	94137	broad.mit.edu	37	8	10466091	10466091	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:10466091C>T	uc003wtc.3	-	3	5746	c.5517G>A	c.(5515-5517)gaG>gaA	p.E1839E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1839					intracellular signal transduction			p.P1838Q(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCCTTCAGCCTCCGGGGCCT	0.632000														72			11		0	0	0.000673	0	0
ZNF608	57507	broad.mit.edu	37	5	123983748	123983748	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:123983748G>A	uc003ktq.1	-	3	2512	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Nonsense_Mutation_p.Q777*|ZNF608_uc003ktt.1_Nonsense_Mutation_p.Q777*	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	777						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGTGTAGCCTGAACAACAGTT	0.532000														52			6		0	0	0.003080	0	0
SELE	6401	broad.mit.edu	37	1	169701840	169701840	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:169701840C>T	uc001ggm.4	-	2	494	c.337G>A	c.(337-339)Gag>Aag	p.E113K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	113	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ATGTAGATCTCCACGCAGTCC	0.502000														18			4		0	0	0.000248	0	0
OFCC1	266553	broad.mit.edu	37	6	9908750	9908750	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:9908750C>T	uc003myh.1	-	4	392	c.343_splice	c.e4+1	p.V115_splice	OFCC1_uc010jog.1_Splice_Site_p.G90_splice|OFCC1_uc021yli.1_Splice_Site|OFCC1_uc003myi.3_Intron|OFCC1_uc003myj.1_Splice_Site_p.G115_splice|OFCC1_uc003myk.1_Splice_Site|OFCC1_uc003myn.3_Splice_Site_p.D115_splice|OFCC1_uc010joi.1_Splice_Site_p.D183_splice|OFCC1_uc010joh.1_Splice_Site|OFCC1_uc011dif.1_Splice_Site_p.D119_splice|OFCC1_uc011dig.1_Splice_Site_p.D115_splice					SubName: Full=Uncharacterized protein;											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCTAGCTCACCTTCTCTGCT	0.393000														60			6		0	0	0.003080	0	0
AFF3	3899	broad.mit.edu	37	2	100623280	100623280	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:100623280C>T	uc002taf.3	-	5	906	c.762G>A	c.(760-762)caG>caA	p.Q254Q	AFF3_uc002tag.3_Silent_p.Q229Q|AFF3_uc010fiq.1_Silent_p.Q229Q|AFF3_uc010yvr.1_Silent_p.Q383Q|AFF3_uc002tah.1_Silent_p.Q254Q|AFF3_uc010fir.1_Silent_p.Q306Q	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	229					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGTCGGTTTCTGCTGGACCA	0.577000														27			4		0	0	0.000602	0	0
ZBBX	79740	broad.mit.edu	37	3	167000194	167000194	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:167000194G>A	uc011bpc.2	-	19	2423	c.2086C>T	c.(2086-2088)Cga>Tga	p.R696*	ZBBX_uc003feq.3_Nonsense_Mutation_p.R628*|ZBBX_uc003fep.3_Nonsense_Mutation_p.R657*	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	657						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTTCTTGATCGAGGATGAGAG	0.373000														92			6		0	0	0.001984	0	0
NEK8	284086	broad.mit.edu	37	17	27061926	27061926	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:27061926G>A	uc002hcp.3	+	2	390	c.390G>A	c.(388-390)aaG>aaA	p.K130K		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	130	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGACCTCAAGACCCAGAACA	0.547000														57			7		0	0	0.000443	0	0
TTN	7273	broad.mit.edu	37	2	179435851	179435851	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179435851G>A	uc021vsy.1	-	274	67529	c.67304C>T	c.(67303-67305)gCt>gTt	p.A22435V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A16130V|TTN_uc021vta.1_Missense_Mutation_p.A16063V|TTN_uc021vtb.1_Missense_Mutation_p.A15938V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23362	Ig-like 116.						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)			TGGGTCACGAGCCACATAACA	0.478000														41			6		0	0	0.001168	0	0
SCN5A	6331	broad.mit.edu	37	3	38595873	38595873	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:38595873G>A	uc021wvo.1	-	25	4762	c.4710C>T	c.(4708-4710)atC>atT	p.I1570I	SCN5A_uc021wvk.1_Silent_p.I1569I|SCN5A_uc021wvl.1_Silent_p.I1516I|SCN5A_uc021wvm.1_Silent_p.I1552I|SCN5A_uc021wvn.1_Silent_p.I1569I|SCN5A_uc021wvp.1_Silent_p.I1570I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1382I|SCN5A_uc021wvi.1_Silent_p.I1436I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1570					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)	CGCCTGTGAAGATGGCCACAA	0.488000														43			4		0	0	0.000602	0	0
LRCH4	4034	broad.mit.edu	37	7	100176275	100176275	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100176275G>A	uc003uvj.3	-	4	786	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	245					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCCTCACCTGGGCAGGTGGA	0.657000														17			5		0	0	0.000602	0	0
TRIM48	79097	broad.mit.edu	37	11	55032390	55032390	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:55032390G>A	uc010rid.2	+	1	145	c.59G>A	c.(58-60)gGa>gAa	p.G20E		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	4						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ATGAATTCTGGAATCTCGCAA	0.473000														68			7		0	0	0.003080	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883422	228883422	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228883422C>T	uc002vpq.2	-	6	2195	c.2148G>A	c.(2146-2148)gtG>gtA	p.V716V	SPHKAP_uc002vpp.2_Silent_p.V716V|SPHKAP_uc010zlx.1_Silent_p.V716V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	716						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGAAGCATATCACATCTAAAA	0.408000														89			6		0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4152949	4152949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:4152949G>A	uc003smx.3	+	23	3602	c.3463G>A	c.(3463-3465)Ggg>Agg	p.G1155R	SDK1_uc010kso.3_Missense_Mutation_p.G431R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1155	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.G1155W(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAACATTGTTGGGCCGAGCCC	0.542000														125			14		0	0	0.001855	0	0
NLGN4X	57502	broad.mit.edu	37	X	5947423	5947423	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:5947423C>T	uc010ndi.3	-	2	987	c.523G>A	c.(523-525)Gga>Aga	p.G175R	NLGN4X_uc004crp.3_Missense_Mutation_p.G195R|NLGN4X_uc010ndh.3_Missense_Mutation_p.G175R|NLGN4X_uc004crq.3_Missense_Mutation_p.G175R|NLGN4X_uc004crr.3_Missense_Mutation_p.G175R|NLGN4X_uc010ndj.3_Missense_Mutation_p.G175R	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	175					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ATGTAAGATCCCCCATGGATA	0.443000														16			4		0	0	0.000602	0	0
IRF6	3664	broad.mit.edu	37	1	209974602	209974602	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:209974602C>T	uc001hhq.2	-	2	461	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	IRF6_uc010psm.2_Intron	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	53					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E52*(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGTATTTTCCTCTTCTTGT	0.423000										HNSCC(57;0.16)				59			8		0	0	0.003080	0	0
HP	3240	broad.mit.edu	37	16	72094674	72094674	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:72094674G>A	uc002fbr.4	+	6	1150	c.1106G>A	c.(1105-1107)tGg>tAg	p.W369*	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Nonsense_Mutation_p.W310*|HP_uc021tld.1_Nonsense_Mutation_p.W310*|HP_uc002fbt.4_Nonsense_Mutation_p.W310*|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	369	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GAGGACACCTGGTATGCGACT	0.527000														50			8		0	0	0.000443	0	0
CFH	3075	broad.mit.edu	37	1	196695937	196695937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196695937G>A	uc001gtj.4	+	13	2343	c.2103G>A	c.(2101-2103)tgG>tgA	p.W701*	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	701	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACATGGCTGGGCCCAGCTTT	0.363000														32			6		0	0	0.001168	0	0
FCER1A	2205	broad.mit.edu	37	1	159272649	159272649	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159272649G>A	uc001ftq.3	+	2	158	c.61G>A	c.(61-63)Gat>Aat	p.D21N		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	21						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGCAGCTCCAGATGGCGTGTT	0.468000														48			5		0	0	0.003080	0	0
MED13	9969	broad.mit.edu	37	17	60072573	60072573	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:60072573G>A	uc002izo.3	-	9	2198	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	707					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAAAAAGGAATTCCTCAT	0.343000														90			7		0	0	0.003080	0	0
SLAMF9	89886	broad.mit.edu	37	1	159921544	159921544	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:159921544G>A	uc001fus.3	-	3	894	c.777C>T	c.(775-777)gtC>gtT	p.V259V	SLAMF9_uc009wtd.3_Silent_p.V168V|SLAMF9_uc001fut.3_3'UTR	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	259						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCTTTTCTGGACTCGGATGA	0.507000														43			6		0	0	0.001168	0	0
LHFPL4	375323	broad.mit.edu	37	3	9547675	9547675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:9547675C>T	uc003bry.3	-	2	905	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	207						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					TTGAGCTCCTCCTGCAGCAGG	0.612000														73			6		0	0	0.003080	0	0
UPF2	26019	broad.mit.edu	37	10	11971937	11971937	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:11971937G>A	uc001ila.3	-	19	4210	c.3736C>T	c.(3736-3738)Cgt>Tgt	p.R1246C	UPF2_uc001ilb.3_Missense_Mutation_p.R1246C|UPF2_uc001ilc.3_Missense_Mutation_p.R1246C	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1246	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CGCCTCTCACGATTGGTGTTT	0.463000														223			30		0	0	0.002836	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303925	151303925	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151303925G>A	uc022cgz.1	-	0	168	c.168C>T	c.(166-168)tcC>tcT	p.S56S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.S56S|MAGEA10_uc004ffm.2_Silent_p.S56S|MAGEA10_uc004ffl.3_Silent_p.S56S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	56	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaagaggaggaggagg	0.557000														72			5		0	0	0.001168	0	0
DPY19L2	283417	broad.mit.edu	37	12	64061910	64061910	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:64061910G>A	uc001srp.1	-	0	445	c.264C>T	c.(262-264)tcC>tcT	p.S88S	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	88					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GCTGCGCCAGGGAATTACGGA	0.612000														40			4		0	0	0.000602	0	0
TSPAN5	10098	broad.mit.edu	37	4	99407933	99407933	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:99407933C>T	uc003hub.3	-	2	670	c.235G>A	c.(235-237)Ggg>Agg	p.G79R	TSPAN5_uc011cdz.2_Missense_Mutation_p.G8R	NM_005723	NP_005714	P62079	TSN5_HUMAN	Homo sapiens tetraspanin 5 (TSPAN5), mRNA.	79						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CCAATGCACCCTGCAAATCCC	0.473000														43			4		0	0	0.000248	0	0
PTCHD2	57540	broad.mit.edu	37	1	11585237	11585237	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:11585237C>T	uc001ash.4	+	11	2619	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	PTCHD2_uc001asi.1_Silent_p.F827F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	827					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCGTAGATTTCCCAGGCACCG	0.567000														63			11		0	0	0.002450	0	0
FREM1	158326	broad.mit.edu	37	9	14775892	14775892	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:14775892C>T	uc003zlm.3	-	25	5568	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512000														35			4		0	0	0.000602	0	0
DAXX	1616	broad.mit.edu	37	6	33289292	33289292	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:33289292A>T	uc003oec.3	-	2	464	c.260T>A	c.(259-261)tTc>tAc	p.F87Y	DAXX_uc021ywn.1_Missense_Mutation_p.F87Y|DAXX_uc021ywo.1_Missense_Mutation_p.F87Y|DAXX_uc011dre.2_Missense_Mutation_p.F99Y|DAXX_uc003oed.3_Missense_Mutation_p.F87Y|DAXX_uc011drd.2_Missense_Mutation_p.F12Y|DAXX_uc010juw.2_Missense_Mutation_p.F12Y	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	87	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GTTATAGAGGAATGGGACCAC	0.572000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									58			6		0	0	0.001984	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994545	140994545	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994545C>T	uc004fbt.3	+	3	1679	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S111F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	452							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTTCTCCTACACTTTA	0.463000										HNSCC(15;0.026)				92			11		0	0	0.000673	0	0
XKR4	114786	broad.mit.edu	37	8	56436207	56436207	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:56436207C>T	uc003xsf.3	+	2	1406	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	458						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCAGGCTATTCATTTACTATT	0.468000														57			7		0	0	0.003080	0	0
CD2AP	23607	broad.mit.edu	37	6	47575686	47575686	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:47575686C>T	uc003oyw.3	+	14	2010	c.1554C>T	c.(1552-1554)atC>atT	p.I518I		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	518					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CCGAAAAAATCTTGAAGTTAC	0.368000														64			5		0	0	0.001168	0	0
WNT7B	7477	broad.mit.edu	37	22	46319209	46319209	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:46319209C>T	uc010haa.2	-	3	716	c.589G>A	c.(589-591)Gag>Aag	p.E197K	WNT7B_uc003bgo.2_Missense_Mutation_p.E193K	NM_058238	NP_478679	P56706	WNT7B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7B (WNT7B), mRNA.	193					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ATCCGGTCCTCTAGAACCTGC	0.662000														24			4		0	0	0.000248	0	0
ZPLD1	131368	broad.mit.edu	37	3	102183056	102183056	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:102183056G>A	uc003dvt.1	+	6	870	c.770G>A	c.(769-771)gGa>gAa	p.G257E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G241E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G241E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	241	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACCCCATCAGGAAACCCAAAT	0.323000														60			5		0	0	0.001168	0	0
DOCK11	139818	broad.mit.edu	37	X	117775215	117775215	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:117775215G>A	uc004eqp.2	+	38	4270	c.4207G>A	c.(4207-4209)Gaa>Aaa	p.E1403K	DOCK11_uc004eqq.2_Missense_Mutation_p.E1182K	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1403					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TACAGCTACTGAAGTTTCCCT	0.363000														31			5		0	0	0.001168	0	0
GABRA3	2556	broad.mit.edu	37	X	151424282	151424282	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151424282C>T	uc010ntk.1	-	4	759	c.519G>A	c.(517-519)ttG>ttA	p.L173L		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	173					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGTTGTCCACCAATCTGAGCA	0.488000														52			6		0	0	0.001168	0	0
TACC2	10579	broad.mit.edu	37	10	123984295	123984295	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:123984295C>T	uc001lfv.3	+	11	7961	c.7601C>T	c.(7600-7602)tCc>tTc	p.S2534F	TACC2_uc001lfw.3_Missense_Mutation_p.S680F|TACC2_uc009xzx.3_Missense_Mutation_p.S2489F|TACC2_uc010qtv.2_Missense_Mutation_p.S2538F|TACC2_uc001lfx.3_Missense_Mutation_p.S238F|TACC2_uc001lfy.3_Missense_Mutation_p.S234F|TACC2_uc001lfz.3_Missense_Mutation_p.S612F|TACC2_uc001lga.3_Missense_Mutation_p.S612F|TACC2_uc009xzy.3_Missense_Mutation_p.S624F|TACC2_uc001lgb.3_Missense_Mutation_p.S569F|TACC2_uc010qtw.1_Missense_Mutation_p.S629F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2534						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)				ATTGGCTCCTCCTTACCTGTA	0.468000														94			8		0	0	0.000443	0	0
CDHR2	54825	broad.mit.edu	37	5	176016402	176016402	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:176016402C>T	uc021yie.1	+	22	3354	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	CDHR2_uc003mem.2_Missense_Mutation_p.S1027F|CDHR2_uc003men.1_Missense_Mutation_p.S1027F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1027	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACAGACCTTCCTTGGGTCCT	0.662000														39			6		0	0	0.003080	0	0
MUC17	140453	broad.mit.edu	37	7	100685955	100685955	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100685955C>T	uc003uxp.1	+	2	11311	c.11258C>T	c.(11257-11259)aCc>aTc	p.T3753I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3753	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAATAAGCACCCTTGGGACC	0.488000														82			9		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179577141	179577141	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179577141C>T	uc021vsy.1	-	91	24001	c.23776G>A	c.(23776-23778)Gaa>Aaa	p.E7926K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E4587K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8853	Ig-like 61.						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)			CTTGGAATTTCCAGGATTGCC	0.408000														63			5		0	0	0.001168	0	0
SERPINI2	5276	broad.mit.edu	37	3	167170742	167170742	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:167170742C>T	uc003fes.1	-	5	1047	c.976G>A	c.(976-978)Gac>Aac	p.D326N	SERPINI2_uc003fer.1_Missense_Mutation_p.D316N|SERPINI2_uc003fet.1_Missense_Mutation_p.D316N	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	316					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCAGAAAGGTCGCAGCCACCA	0.284000														40			5		0	0	0.001168	0	0
DDHD1	80821	broad.mit.edu	37	14	53529882	53529882	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:53529882G>A	uc001xai.3	-	6	1775	c.1545C>T	c.(1543-1545)tcC>tcT	p.S515S	DDHD1_uc001xaj.3_Silent_p.S522S|DDHD1_uc001xah.3_Silent_p.S515S|DDHD1_uc001xag.3_Silent_p.S97S|DDHD1_uc001xak.1_5'Flank	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	515					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					AACAGAAAAGGGAATACAATC	0.353000														50			5		0	0	0.001168	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217150	150217150	+	Missense_Mutation	SNP	G	A	A	rs114367962	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:150217150G>A	uc003whk.3	+	1	218	c.88G>A	c.(88-90)Gga>Aga	p.G30R	GIMAP7_uc022apu.1_Missense_Mutation_p.G30R	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	30							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCATCCTTGGAGAGGAAAT	0.502000														25			4		0	0	0.000248	0	0
EPHA1	2041	broad.mit.edu	37	7	143095078	143095078	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143095078C>T	uc003wcz.3	-	7	1637	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	517	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GGTCAGCATTCGGACTCTGAC	0.557000														25			6		0	0	0.001168	0	0
AMACR	23600	broad.mit.edu	37	5	34005978	34005978	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:34005978G>A	uc003jij.3	-	1	370	c.274C>T	c.(274-276)Cca>Tca	p.P92S	AMACR_uc003jig.3_Missense_Mutation_p.P92S|AMACR_uc003jih.3_Missense_Mutation_p.P92S|AMACR_uc003jik.2_Missense_Mutation_p.P92S|AMACR_uc003jil.2_Missense_Mutation_p.P92S	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	92					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AGAATCTCTGGGCCCAGCTGG	0.468000														47			4		0	0	0.000248	0	0
WDR88	126248	broad.mit.edu	37	19	33647373	33647373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:33647373C>T	uc002nui.3	+	6	1000	c.922C>T	c.(922-924)Cga>Tga	p.R308*		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	308										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AGGGGAGTTTCGAAACTGTGG	0.463000														50			6		0	0	0.001168	0	0
ATG7	10533	broad.mit.edu	37	3	11340188	11340188	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:11340188G>A	uc003bwc.3	+	1	136	c.19G>A	c.(19-21)Gat>Aat	p.D7N	ATG7_uc003bwd.3_Missense_Mutation_p.D7N|ATG7_uc011aum.2_Missense_Mutation_p.D7N	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	7					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGCTACGGGGGATCCTGGACT	0.433000														73			6		0	0	0.003080	0	0
PNMA3	29944	broad.mit.edu	37	X	152226134	152226134	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:152226134G>A	uc022cho.1	+	0	722	c.722G>A	c.(721-723)gGa>gAa	p.G241E	PNMA3_uc004fhc.2_Missense_Mutation_p.G241E|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	241					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					caggtgttcggacctgtggag	0.552000														114			16		0	0	0.003163	0	0
C1orf94	84970	broad.mit.edu	37	1	34667757	34667757	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:34667757C>T	uc001bxt.3	+	3	2181	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	C1orf94_uc001bxs.4_Missense_Mutation_p.P258L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	258							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCACACTTTCCTACAGCCATG	0.512000														24			4		0	0	0.000248	0	0
ASNSD1	54529	broad.mit.edu	37	2	190535172	190535172	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:190535172C>T	uc002uqt.3	+	5	2086	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	551	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTAGATTTCCTTTCCTGGAT	0.299000														30			4		0	0	0.000248	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777904	110777904	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:110777904G>A	uc003puf.3	-	1	437	c.370C>T	c.(370-372)Cct>Tct	p.P124S	SLC22A16_uc003pue.3_Missense_Mutation_p.P105S|SLC22A16_uc003pug.3_Missense_Mutation_p.P124S	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	124					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.P124S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TCCACACAAGGAAACTCTTTC	0.478000														48			7		0	0	0.001984	0	0
LOC440518	440518	broad.mit.edu	37	19	22780133	22780133	+	RNA	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:22780133G>A	uc002nqu.4	+	1		c.211G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CTACAGGAGTGAAAAAGAAAA	0.488000														26			5		0	0	0.000602	0	0
LHX9	56956	broad.mit.edu	37	1	197889123	197889123	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:197889123G>A	uc001guk.1	+	1	633	c.196G>A	c.(196-198)Gag>Aag	p.E66K	LHX9_uc001gui.1_Missense_Mutation_p.E57K	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	66					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.P65L(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GCTCAGCCCGGAGAAGCCCGC	0.662000														67			6		0	0	0.003080	0	0
C2orf16	84226	broad.mit.edu	37	2	27802154	27802154	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:27802154G>A	uc002rkz.4	+	0	2766	c.2715G>A	c.(2713-2715)agG>agA	p.R905R		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	905										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTATGGAAAGGAAGCTTTGTT	0.428000														72			8		0	0	0.004482	0	0
IL21	59067	broad.mit.edu	37	4	123542164	123542164	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:123542164C>T	uc003ies.2	-	0	48	c.3G>A	c.(1-3)atG>atA	p.M1I	BC045668_uc003iet.3_Non-coding_Transcript|IL21_uc010int.3_Missense_Mutation_p.M1I	NM_021803	NP_068575	Q9HBE4	IL21_HUMAN	Homo sapiens interleukin 21 (IL21), transcript variant 1, mRNA.	0					cell maturation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						GACTGGATCTCATAAGTACCA	0.468000														38			6		0	0	0.001168	0	0
RPS2	6187	broad.mit.edu	37	16	2012881	2012881	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:2012881G>A	uc002cnn.2	-	3	593	c.405C>T	c.(403-405)ggC>ggT	p.G135G	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Intron|RPS2_uc002cno.2_Silent_p.G135G|SNORA10_uc002cnp.1_5'Flank|SNHG9_uc002cnr.3_5'Flank|SNORA78_uc002cns.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	135	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GACCGACGTGGCCATTGTAGT	0.617000														20			6		0	0	0.003080	0	0
C10orf120	399814	broad.mit.edu	37	10	124457257	124457257	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:124457257G>A	uc001lgn.3	-	2	1032	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	334								p.H334Y(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CTTTAATAATGATAAGGAGTT	0.448000														40			5		0	0	0.001168	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925126	54925126	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:54925126G>A	uc001sgc.4	+	22	2668	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	NCKAP1L_uc010sox.2_Silent_p.Q405Q|NCKAP1L_uc010soy.2_Silent_p.Q813Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	863					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.Q863*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGACCTCTCAGATTGTGGAGC	0.507000														74			9		0	0	0.000978	0	0
CBLB	868	broad.mit.edu	37	3	105586288	105586288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:105586288G>A	uc003dwc.3	-	1	456	c.134C>T	c.(133-135)aCc>aTc	p.T45I	CBLB_uc011bhi.2_Missense_Mutation_p.T67I|CBLB_uc003dwd.2_Missense_Mutation_p.T45I|CBLB_uc003dwe.2_Missense_Mutation_p.T45I|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	45	4H.|Cbl-PTB.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTTCTCCACGGTCCTGCGATC	0.483000			Mis S		AML									89			9		0	0	0.000673	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593942	135593942	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:135593942G>A	uc004ezw.3	+	9	2460	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	HTATSF1_uc004ezx.3_Missense_Mutation_p.E680K	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	680	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATGACAAGGAAGATGAAGA	0.413000														36			6		0	0	0.001984	0	0
PPM1E	22843	broad.mit.edu	37	17	57043226	57043226	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:57043226C>T	uc002iwx.3	+	2	882	c.755C>T	c.(754-756)cCt>cTt	p.P252L	PPM1E_uc010ddd.3_Intron	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	261					protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GTCTGCATTCCTGACTTTAAT	0.433000														45			5		0	0	0.001168	0	0
PCNP	57092	broad.mit.edu	37	3	101298703	101298703	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:101298703C>T	uc003dva.3	+	1	152	c.134C>T	c.(133-135)tCc>tTc	p.S45F	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Intron|PCNP_uc003dvd.3_Missense_Mutation_p.S45F	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	45					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						GGGGAAAGTTCCAGTCGCAGC	0.463000														34			5		0	0	0.001168	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734766	12734767	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:12734766_12734767GG>AA	uc004cuz.2	+	14	2694_2695	c.2188_2189GG>AA	c.(2188-2190)ggg>AAg	p.G730K	FRMPD4_uc011mij.2_Missense_Mutation_p.G722K	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	730					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.G720E(1)|p.G720R(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGCCGCGGAGGGGATCGAGGAA	0.559000														101			9		0	0	0.004672	0	0
ABCD2	225	broad.mit.edu	37	12	39994471	39994471	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:39994471C>T	uc001rmb.2	-	5	1974	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	516	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G516E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GAGAACTTTTCCCACAACCAT	0.353000														60			8		0	0	0.004482	0	0
INTS5	80789	broad.mit.edu	37	11	62415846	62415846	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:62415846G>A	uc001nud.3	-	1	1759	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	569					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGCCGTGAAGGGAGGCTGTAA	0.627000														42			4		0	0	0.000602	0	0
RTN2	6253	broad.mit.edu	37	19	45998125	45998125	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:45998125A>G	uc002pcb.3	-	2	448	c.218T>C	c.(217-219)gTg>gCg	p.V73A	RTN2_uc002pcc.3_Missense_Mutation_p.V73A|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	73						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CCCGGAGCCCACTACACCATC	0.692000														26			4		0	0	0.000602	0	0
OR2L2	26246	broad.mit.edu	37	1	248201654	248201654	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248201654C>T	uc001idw.3	+	0	181	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CGTATTCACCCTCATTTTTCT	0.368000														71			6		0	0	0.001168	0	0
SP7	121340	broad.mit.edu	37	12	53722796	53722796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:53722796G>A	uc001sct.3	-	1	537	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	SP7_uc001scv.3_Missense_Mutation_p.H144Y|SP7_uc001scu.3_Missense_Mutation_p.H126Y	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						ATGCCTGCATGGATGCCTGCC	0.592000														19			4		0	0	0.000248	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967772	88967772	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:88967772C>T	uc004aou.3	-	1	481	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.E115K|ZCCHC6_uc004aot.3_Missense_Mutation_p.E115K|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.E115K|ZCCHC6_uc004aow.3_Missense_Mutation_p.E115K|ZCCHC6_uc010mqf.2_Missense_Mutation_p.E115K	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	115					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTTTGAATTCTCTCCAGTTG	0.423000														82			11		0	0	0.000978	0	0
ZBP1	81030	broad.mit.edu	37	20	56185313	56185313	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:56185313G>A	uc002xyo.3	-	6	1266	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	ZBP1_uc010gjm.3_Missense_Mutation_p.L328F|ZBP1_uc002xyp.3_Missense_Mutation_p.L254F	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	329						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCGTCCTCGAGAAAGCACGAT	0.597000														105			7		0	0	0.001984	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819986	25819986	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:25819986C>T	uc003nfh.4	-	3	481	c.365G>A	c.(364-366)aGc>aAc	p.S122N	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.S122N|SLC17A1_uc010jqc.1_Missense_Mutation_p.S120N	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	122					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GATGAGCAGGCTTAACACAGA	0.433000														35			4		0	0	0.000248	0	0
SMO	6608	broad.mit.edu	37	7	128851577	128851578	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:128851577_128851578CC>TT	uc003vor.3	+	10	2182_2183	c.1902_1903CC>TT	c.(1900-1905)ccccag>ccTTag	p.Q635*	SMO_uc003vos.3_Nonsense_Mutation_p.Q310*	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	635					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCATACTGCCCCAGGATATTTC	0.594000			Mis		skin basal cell									32			5		0	0	0.004672	0	0
ICK	22858	broad.mit.edu	37	6	52876895	52876895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:52876895G>A	uc003pbh.2	-	10	1773	c.1283C>T	c.(1282-1284)cCa>cTa	p.P428L	ICK_uc003pbi.2_Missense_Mutation_p.P428L	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	428					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GCTGAGGGATGGACTGAAATC	0.453000														39			4		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61932897	61932897	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61932897C>T	uc001jky.3	-	18	2570	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K	ANK3_uc001jkx.3_5'Flank|ANK3_uc010qih.2_Silent_p.K727K|ANK3_uc001jkz.4_Silent_p.K738K|ANK3_uc001jlb.1_Silent_p.K273K|ANK3_uc001jlc.1_Silent_p.K405K	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	744					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATTAACAATCTTGATATTTC	0.338000														24			4		0	0	0.000248	0	0
CALU	813	broad.mit.edu	37	7	128399047	128399047	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:128399047C>T	uc022ald.1	+	4	1505	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	CALU_uc022alg.1_Silent_p.L106L|CALU_uc022alh.1_Silent_p.L106L|CALU_uc022ali.1_Silent_p.L28L|CALU_uc003vns.3_Silent_p.L180L|CALU_uc003vnr.3_Silent_p.L188L|CALU_uc003vnq.3_Silent_p.L180L|CALU_uc022ale.1_Silent_p.L180L|CALU_uc022alf.1_Silent_p.L29L	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	180	EF-hand 4.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding	p.Y187*(1)		kidney(2)|large_intestine(3)|lung(5)	10						CACAGCTTTCCTGCACCCTGA	0.428000														118			12		0	0	0.000978	0	0
TFAP2D	83741	broad.mit.edu	37	6	50682961	50682961	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:50682961C>T	uc003paf.3	+	1	684	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	58							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTTTGCGTCCCCCTACTTCTC	0.582000														59			5		0	0	0.001168	0	0
GSDMA	284110	broad.mit.edu	37	17	38133119	38133119	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:38133119C>T	uc002htl.1	+	11	1264	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	GSDMA_uc002htm.1_Silent_p.F382F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	382					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						AGGGTGTTTTCCCCCTGCAAC	0.562000														43			5		0	0	0.000602	0	0
ALS2CR12	130540	broad.mit.edu	37	2	202208901	202208901	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:202208901G>A	uc010ftg.3	-	5	898	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	ALS2CR12_uc002uya.4_Nonsense_Mutation_p.Q152*|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	152					regulation of GTPase activity		protein binding	p.Q152K(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACCAATTTCTGGGCAGACTGG	0.388000														52			6		0	0	0.001984	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282917	154282917	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:154282917C>T	uc004fmw.3	+	4	690	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	180						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGGGATTTTTCGGAGGCTTTC	0.418000														65			6		0	0	0.001168	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809499	48809499	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:48809499C>T	uc002rwp.2	+	1	1841	c.1727C>T	c.(1726-1728)tCg>tTg	p.S576L	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.S576L|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.S576L|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.S576L|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.S576L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	576					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTCCCATCGCAGTGGATC	0.493000														64			7		0	0	0.001984	0	0
A2ML1	144568	broad.mit.edu	37	12	9000241	9000241	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:9000241G>A	uc001quz.4	+	14	1878	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	A2ML1_uc001qva.1_Missense_Mutation_p.V174M|A2ML1_uc010sgm.2_Missense_Mutation_p.V94M	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	438						extracellular space	endopeptidase inhibitor activity	p.A593V(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GCTCCGGGCGGTGGATGAGAG	0.602000														69			8		0	0	0.000673	0	0
ENPP7	339221	broad.mit.edu	37	17	77711814	77711814	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:77711814G>A	uc002jxa.3	+	4	1366	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	449					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTGCTGGGGACCGTGATT	0.632000														32			6		0	0	0.001984	0	0
CD163	9332	broad.mit.edu	37	12	7651494	7651494	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:7651494G>A	uc001qsz.3	-	3	876	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	CD163_uc001qta.3_Missense_Mutation_p.H250Y|CD163_uc009zfw.2_Missense_Mutation_p.H250Y	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	250	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTCAGCATGATCACAGTTA	0.433000														96			8		0	0	0.000443	0	0
UNC93A	54346	broad.mit.edu	37	6	167709569	167709569	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:167709569C>T	uc003qvq.3	+	2	494	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	UNC93A_uc003qvr.3_Silent_p.L107L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	107						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGCCGCCCCGCTGTGGTCTGC	0.547000														41			6		0	0	0.001984	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927299	43927299	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:43927299C>T	uc010yny.2	+	7	1285	c.1202C>T	c.(1201-1203)tCg>tTg	p.S401L	PLEKHH2_uc002rte.3_Missense_Mutation_p.S401L|PLEKHH2_uc002rtf.3_Missense_Mutation_p.S400L	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	401	Poly-Ser.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCATCTTCATCGAGTGAAGCC	0.398000														217			14		0	0	0.001855	0	0
OR5A2	219981	broad.mit.edu	37	11	59189496	59189496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:59189496C>T	uc010rkt.2	-	0	931	c.931G>A	c.(931-933)Ggg>Agg	p.G311R		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P310H(1)		large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TGAGAAATCCCGGGGTCCCTT	0.413000														35			5		0	0	0.000602	0	0
RYR1	6261	broad.mit.edu	37	19	38989858	38989858	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:38989858C>T	uc002oit.3	+	42	7132	c.7002C>T	c.(7000-7002)ttC>ttT	p.F2334F	RYR1_uc002oiu.3_Silent_p.F2334F|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2334	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCTGGACTTCCTGCGCTTTG	0.612000														36			6		0	0	0.003080	0	0
PDGFRA	5156	broad.mit.edu	37	4	55136834	55136834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:55136834G>A	uc003han.4	+	7	1487	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E280K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	386	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.K385I(1)|p.K385M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCGTGCTAAGGAAGAAGACAG	0.338000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				62			5		0	0	0.000602	0	0
COL4A6	1288	broad.mit.edu	37	X	107420111	107420111	+	Silent	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:107420111A>C	uc004enw.4	-	27	2752	c.2649T>G	c.(2647-2649)tcT>tcG	p.S883S	COL4A6_uc004env.4_Silent_p.S882S|COL4A6_uc011msn.2_Silent_p.S882S|COL4A6_uc010npk.3_Silent_p.S882S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	883	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CGACCCCTGGAGAGCCTGGGC	0.542000									Alport syndrome with Diffuse Leiomyomatosis					76			7		0	0	0.001984	0	0
L1TD1	54596	broad.mit.edu	37	1	62672661	62672661	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:62672661G>A	uc021ooc.1	+	3	796	c.361G>A	c.(361-363)Gga>Aga	p.G121R	L1TD1_uc001dae.4_Missense_Mutation_p.G121R	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	121								p.G121E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						gaaaatagaaggagaaaactc	0.323000														92			6		0	0	0.001984	0	0
CARD11	84433	broad.mit.edu	37	7	2962835	2962835	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:2962835G>A	uc003smv.3	-	15	2407	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	691	PDZ.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCGAGTGCACGAAGCTCCCTC	0.701000			Mis		DLBCL									33			5		0	0	0.001168	0	0
MUC17	140453	broad.mit.edu	37	7	100699490	100699490	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100699490A>C	uc003uxp.1	+	11	13432	c.13379A>C	c.(13378-13380)cAc>cCc	p.H4460P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4460						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GATTCCATCCACCTGGAGTCC	0.493000														24			3		0	0	0.000602	0	0
PSEN1	5663	broad.mit.edu	37	14	73640349	73640349	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:73640349C>T	uc001xnr.3	+	4	698	c.414C>T	c.(412-414)atC>atT	p.I138I	PSEN1_uc001xnv.3_Silent_p.I134I|PSEN1_uc010ark.3_Silent_p.I134I|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript|PSEN1_uc001xnq.4_Silent_p.I138I	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	138					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		ATGCTGCCATCATGATCAGTG	0.443000														58			7		0	0	0.001984	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952094	96952094	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:96952094G>A	uc002svu.3	-	28	4090	c.3958C>T	c.(3958-3960)Ctt>Ttt	p.L1320F	SNRNP200_uc002svt.3_5'Flank|SNRNP200_uc010yuj.2_5'Flank|SNRNP200_uc002svv.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1320						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTTGGTAAAGACTCTCAAAG	0.522000														63			7		0	0	0.001984	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882732	228882732	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:228882732C>T	uc002vpq.2	-	6	2885	c.2838G>A	c.(2836-2838)gcG>gcA	p.A946A	SPHKAP_uc002vpp.2_Silent_p.A946A|SPHKAP_uc010zlx.1_Silent_p.A946A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	946	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGGCAAATCGCTGCAATTT	0.473000														60			8		0	0	0.003080	0	0
SDK1	221935	broad.mit.edu	37	7	4218208	4218208	+	Silent	SNP	C	T	T	rs145808805		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:4218208C>T	uc003smx.3	+	34	5227	c.5088C>T	c.(5086-5088)gtC>gtT	p.V1696V	SDK1_uc010kso.3_Silent_p.V952V|SDK1_uc003smy.3_Silent_p.V183V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1696					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGTCTTTGTCGGCGAGGCTG	0.617000														39			10		0	0	0.000673	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994835	140994835	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994835C>T	uc004fbt.3	+	3	1969	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P208S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	549							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCACTACTTTCCTCAGAGCCC	0.552000										HNSCC(15;0.026)				123			9		0	0	0.000443	0	0
C2orf80	389073	broad.mit.edu	37	2	209046029	209046029	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:209046029C>T	uc002vcr.3	-	5	379	c.207_splice	c.e5-1	p.L69_splice		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	69										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						GTGGTATTTTCCTAATGGGGA	0.363000														28			7		0	0	0.004482	0	0
MST1R	4486	broad.mit.edu	37	3	49933689	49933689	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:49933689G>A	uc003cxy.4	-	9	2852	c.2588C>T	c.(2587-2589)cCc>cTc	p.P863L	MST1R_uc011bdc.2_Missense_Mutation_p.P863L|MST1R_uc011bdd.2_Missense_Mutation_p.P864L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	863					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGGTGGATGGGGTGGGGGTAG	0.587000														52			10		0	0	0.001855	0	0
ARID1B	57492	broad.mit.edu	37	6	157511258	157511258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:157511258C>T	uc003qqp.3	+	13	3737	c.3737C>T	c.(3736-3738)cCc>cTc	p.P1246L	ARID1B_uc003qqo.3_Missense_Mutation_p.P1259L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1299L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1246					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCAAACGCCCCCTACCAGCAG	0.537000														52			7		0	0	0.001984	0	0
SYNE2	23224	broad.mit.edu	37	14	64496705	64496705	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:64496705C>T	uc001xgl.3	+	43	7037	c.6807C>T	c.(6805-6807)tcC>tcT	p.S2269S	SYNE2_uc001xgm.3_Silent_p.S2269S|SYNE2_uc021ruh.1_Silent_p.S2269S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2269					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.S2269F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAATTTCTCCAAGGAATTTG	0.408000														18			4		0	0	0.000248	0	0
EPHA6	285220	broad.mit.edu	37	3	97251245	97251245	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:97251245G>A	uc010how.1	+	10	2287	c.2244G>A	c.(2242-2244)ggG>ggA	p.G748G	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.G114G|EPHA6_uc003drs.4_Silent_p.G140G|EPHA6_uc003drr.4_Silent_p.G140G|EPHA6_uc003drt.3_Silent_p.G140G|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	653	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGACACCAGGGAAAAGAGAGA	0.398000														30			6		0	0	0.000443	0	0
ZNF568	374900	broad.mit.edu	37	19	37440580	37440580	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:37440580C>T	uc002ofc.3	+	6	1043	c.525C>T	c.(523-525)ttC>ttT	p.F175F	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Silent_p.F174F|ZNF568_uc002ofd.3_Silent_p.F111F|ZNF568_uc010efe.3_Silent_p.F111F|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GACAAAGCTTCTATGACTGTG	0.338000														66			6		0	0	0.001984	0	0
XDH	7498	broad.mit.edu	37	2	31570492	31570492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:31570492G>A	uc002rnv.1	-	28	3251	c.3172C>T	c.(3172-3174)Ccc>Tcc	p.P1058S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1058					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTAGAGGTGGGGATTTTCAGA	0.542000														43			7		0	0	0.004482	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76513374	76513374	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:76513374C>T	uc002fex.1	+	10	1969	c.1830C>T	c.(1828-1830)taC>taT	p.Y610Y	CNTNAP4_uc002feu.1_Silent_p.Y606Y|CNTNAP4_uc002fev.1_Silent_p.Y471Y|CNTNAP4_uc010chb.1_Silent_p.Y534Y|CNTNAP4_uc002few.2_Silent_p.Y582Y	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	607	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGTTTTACTATATAGATT	0.338000														81			7		0	0	0.003080	0	0
MMP13	4322	broad.mit.edu	37	11	102819754	102819754	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:102819754C>T	uc001phl.3	-	7	1080	c.1051_splice	c.e7+1	p.G351_splice		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	351	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAAGCTTACCTCTGAAGATG	0.438000														26			4		0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82580151	82580151	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:82580151G>A	uc003uhx.2	-	5	10042	c.9753C>T	c.(9751-9753)atC>atT	p.I3251I	PCLO_uc003uhv.2_Silent_p.I3251I|PCLO_uc010lec.3_Silent_p.I216I	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3182					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						TCTGAACCATGATCTTTTCTT	0.468000														60			12		0	0	0.000978	0	0
PRKCA	5578	broad.mit.edu	37	17	64783058	64783058	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:64783058C>T	uc002jfp.1	+	14	1723	c.1679C>T	c.(1678-1680)tCc>tTc	p.S560F	MIR634_uc021ubx.1_5'Flank	NM_002737	NP_002728	P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	560	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TATCCAAAATCCTTGTCCAAG	0.433000														48			7		0	0	0.001984	0	0
FAM13C	220965	broad.mit.edu	37	10	61112165	61112165	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61112165C>T	uc010qif.1	-	2	321	c.255G>A	c.(253-255)tgG>tgA	p.W85*	FAM13C_uc010qid.2_5'UTR|FAM13C_uc001jkn.3_Nonsense_Mutation_p.W63*|FAM13C_uc001jko.3_Nonsense_Mutation_p.W63*|FAM13C_uc010qie.2_5'UTR|FAM13C_uc001jkp.3_5'UTR	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	63										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGCTCCCAAGAGGGCG	0.532000														26			4		0	0	0.000248	0	0
FAM199X	139231	broad.mit.edu	37	X	103431288	103431288	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:103431288G>A	uc004elw.3	+	3	1026	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	FAM199X_uc004elx.3_Missense_Mutation_p.E56K	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	239										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCTCACAGATGAAAAACTGAA	0.308000														61			7		0	0	0.001984	0	0
FILIP1	27145	broad.mit.edu	37	6	76063340	76063340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:76063340C>T	uc010kbe.3	-	4	1083	c.553G>A	c.(553-555)Gag>Aag	p.E185K	FILIP1_uc003phy.1_Missense_Mutation_p.E182K|FILIP1_uc003phz.3_Missense_Mutation_p.E83K|FILIP1_uc003pia.3_Missense_Mutation_p.E182K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	182										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCTAACTCGTATACGGTG	0.507000														63			6		0	0	0.003080	0	0
FAT3	120114	broad.mit.edu	37	11	92533749	92533749	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:92533749G>A	uc001pdj.4	+	8	7587	c.7570G>A	c.(7570-7572)Gat>Aat	p.D2524N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2524	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACAGATGGTGATCCAGGGAC	0.488000										TCGA Ovarian(4;0.039)				221			13		0	0	0.001855	0	0
CASZ1	54897	broad.mit.edu	37	1	10713500	10713500	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:10713500G>A	uc001aro.3	-	10	2934	c.2614C>T	c.(2614-2616)Ctc>Ttc	p.L872F	CASZ1_uc001arp.1_Missense_Mutation_p.L872F|CASZ1_uc009vmx.2_Missense_Mutation_p.L896F	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAGATGAGGCCCTTGCTT	0.667000														35			5		0	0	0.001168	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708270	126708270	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:126708270C>T	uc003ejg.3	+	0	834	c.834C>T	c.(832-834)ttC>ttT	p.F278F		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	278	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCACTTCTTCACGTCCAAGA	0.587000														71			7		0	0	0.001984	0	0
EHMT2	10919	broad.mit.edu	37	6	31851634	31851634	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:31851634C>T	uc003nxz.1	-	21	2875	c.2865G>A	c.(2863-2865)gaG>gaA	p.E955E	EHMT2_uc003nxx.1_Silent_p.E153E|EHMT2_uc003nxy.1_Silent_p.E753E|EHMT2_uc011don.1_Silent_p.E978E|EHMT2_uc003nya.1_Silent_p.E921E	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	955					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						TCTCGCAGTTCTCTGAGATGT	0.597000														208			22		0	0	0.004656	0	0
KAT6B	23522	broad.mit.edu	37	10	76790634	76790634	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:76790634C>T	uc001jwn.1	+	17	6545	c.6052C>T	c.(6052-6054)Caa>Taa	p.Q2018*	KAT6B_uc001jwo.1_Nonsense_Mutation_p.Q1726*|KAT6B_uc001jwp.1_Nonsense_Mutation_p.Q1835*	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	2018	Interaction with RUNX1 and RUNX2.|Met-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCAAACGCCCCAATACCCTAT	0.532000														48			5		0	0	0.001168	0	0
TTC40	54777	broad.mit.edu	37	10	134660700	134660700	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:134660700C>T	uc021qbc.1	-	41	6179	c.6078G>A	c.(6076-6078)gaG>gaA	p.E2026E		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	187										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCTTCAGGTCCTCGCCTCTCC	0.682000														25			5		0	0	0.000602	0	0
PTPN11	5781	broad.mit.edu	37	12	112891006	112891006	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:112891006C>T	uc001ttx.3	+	3	720	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	PTPN11_uc001ttw.1_Missense_Mutation_p.H114Y	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	114	SH2 2.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TAGGTGGTTTCATGGACATCT	0.358000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					69			8		0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179596121	179596121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179596121C>T	uc021vsy.1	-	55	13865	c.13640G>A	c.(13639-13641)gGc>gAc	p.G4547D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1208D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5474	Ig-like 25.						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)			GACTTCAATGCCACTGAGGTA	0.403000														85			6		0	0	0.001168	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515416	24515416	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:24515416C>T	uc003nef.3	+	5	815	c.787C>T	c.(787-789)Cct>Tct	p.P263S	ALDH5A1_uc003neg.3_Missense_Mutation_p.P250S	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	250					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGCTGGGATTCCTTCAGGTGT	0.368000														74			6		0	0	0.003080	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966859	39966859	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:39966859C>T	uc003ayc.3	+	0	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S	CACNA1I_uc003ayd.3_Silent_p.S34S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	34					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCATCCTCCCCGCCAGGCC	0.687000														21			5		0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61831386	61831386	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61831386C>T	uc001jky.3	-	36	9591	c.9253G>A	c.(9253-9255)Gga>Aga	p.G3085R	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3085					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTCCCTCCCTCTGTCTGG	0.413000														62			6		0	0	0.001168	0	0
DHX57	90957	broad.mit.edu	37	2	39074213	39074213	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:39074213G>A	uc002rrf.3	-	10	2266	c.2167C>T	c.(2167-2169)Cgt>Tgt	p.R723C	DHX57_uc002rrd.4_Missense_Mutation_p.R107C|DHX57_uc002rre.3_Missense_Mutation_p.R156C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	723							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.G722C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GGAAATGTACGACCTAGAAAA	0.348000														26			6		0	0	0.001168	0	0
DUOX1	53905	broad.mit.edu	37	15	45431689	45431689	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:45431689C>T	uc001zus.1	+	12	1627	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	DUOX1_uc001zut.1_Silent_p.G427G|DUOX1_uc010bee.1_Intron	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	427	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCAGCGGGGCCGGGATCTGG	0.622000														34			4		0	0	0.000248	0	0
HCFC1	3054	broad.mit.edu	37	X	153225813	153225813	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:153225813G>A	uc004fjp.3	-	6	1485	c.957C>T	c.(955-957)ccC>ccT	p.P319P		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	319					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P220P(1)|p.P319P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGAGCACGGGGGATGTTGT	0.612000														9			3		0	0	0.000602	0	0
DAGLA	747	broad.mit.edu	37	11	61511332	61511332	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:61511332C>T	uc001nsa.3	+	19	2616	c.2500C>T	c.(2500-2502)Ctg>Ttg	p.L834L		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	834					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AAACCCATCCCTGAGCTCGCG	0.677000														88			8		0	0	0.004482	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001268	13001268	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:13001268G>A	uc001auq.2	-	2	501	c.415C>T	c.(415-417)Cca>Tca	p.P139S	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	139								p.P139Q(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCATCCTTGGACAGTCCTGC	0.507000														320			11		0	0	0.000978	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:78211517C>G	uc010bky.2	-	10	1014	c.250G>C	c.(250-252)Gtc>Ctc	p.V84L						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TTGCTCAGGACACTCAAGGCC	0.557000														96			5		0	0	0.000602	0	0
DYSF	8291	broad.mit.edu	37	2	71795188	71795188	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:71795188G>A	uc010fen.3	+	24	2814	c.2673G>A	c.(2671-2673)ggG>ggA	p.G891G	DYSF_uc010fei.3_Silent_p.G890G|DYSF_uc010feh.3_Silent_p.G859G|DYSF_uc002sig.4_Silent_p.G859G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.G904G|DYSF_uc010fee.3_Silent_p.G873G|DYSF_uc010fef.3_Silent_p.G890G|DYSF_uc002sie.3_Silent_p.G873G|DYSF_uc010feo.3_Silent_p.G905G|DYSF_uc010fej.3_Silent_p.G860G|DYSF_uc010fel.3_Silent_p.G860G|DYSF_uc010fem.3_Silent_p.G874G|DYSF_uc002sif.3_Silent_p.G874G|DYSF_uc010fek.3_Silent_p.G891G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	873						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGCTGAGGGGAAGCTGTCTG	0.592000														44			7		0	0	0.003080	0	0
DNAH5	1767	broad.mit.edu	37	5	13859615	13859615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:13859615C>T	uc003jfd.2	-	29	4938	c.4896G>A	c.(4894-4896)tgG>tgA	p.W1632*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1632	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAAATAAATCCACAGGTTTT	0.423000									Kartagener syndrome					41			4		0	0	0.000248	0	0
GRIK2	2898	broad.mit.edu	37	6	102307216	102307216	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:102307216C>T	uc003pqp.4	+	9	1665	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	GRIK2_uc003pqn.3_Nonsense_Mutation_p.R458*|GRIK2_uc010kcw.3_Nonsense_Mutation_p.R458*|GRIK2_uc003pqo.4_Nonsense_Mutation_p.R458*|GRIK2_uc021zdk.1_Nonsense_Mutation_p.R458*|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	458					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R458*(3)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGGTAATGATCGATTTGAAGG	0.363000														39			8		0	0	0.004482	0	0
IFNA7	3444	broad.mit.edu	37	9	21201699	21201699	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:21201699C>T	uc003zop.1	-	0	506	c.466G>A	c.(466-468)Gag>Aag	p.E156K	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	156					blood coagulation|cell-cell signaling|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			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TATTTCTTCTCCATTAGATAA	0.433000														127			15		0	0	0.004990	0	0
C1orf116	79098	broad.mit.edu	37	1	207195309	207195309	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:207195309C>T	uc001hfd.2	-	3	2059	c.1800G>A	c.(1798-1800)aaG>aaA	p.K600K	C1orf116_uc009xcb.1_Silent_p.K354K|C1orf116_uc021pii.1_Silent_p.K354K	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	600						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GAGTCTACTCCTTCAACAGTC	0.562000														37			5		0	0	0.000602	0	0
C14orf39	317761	broad.mit.edu	37	14	60925443	60925443	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:60925443C>T	uc001xez.4	-	13	1242	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	C14orf39_uc010apo.3_Missense_Mutation_p.D89N	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	378										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		GTCCCTTTATCTCCATACTCA	0.274000														49			5		0	0	0.001984	0	0
CDKL3	51265	broad.mit.edu	37	5	133634401	133634401	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:133634401C>T	uc003kzf.4	-	13	1839	c.1720_splice	c.e13-1	p.G574_splice	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_Splice_Site	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	574						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATCTCCACCCTAAAATTAG	0.333000														76			7		0	0	0.003080	0	0
AK309922	0	broad.mit.edu	37	10	49313302	49313302	+	RNA	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:49313302G>A	uc009xny.1	-	2		c.414C>T								Homo sapiens cDNA, FLJ99963.																		CACATGCTGGGATCACTGCCA	0.438000														15			4		0	0	0.000248	0	0
ARSF	416	broad.mit.edu	37	X	3021848	3021848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:3021848G>A	uc022brz.1	+	8	1284	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	ARSF_uc004cre.2_Missense_Mutation_p.G383E|ARSF_uc004crf.2_Missense_Mutation_p.G383E	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	383						extracellular region	arylsulfatase activity|metal ion binding	p.P382S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCGTCCCAGGAATTGTCCGA	0.453000														41			7		0	0	0.001984	0	0
NEBL	10529	broad.mit.edu	37	10	21098760	21098760	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:21098760C>T	uc001iqi.3	-	24	2983	c.2586G>A	c.(2584-2586)caG>caA	p.Q862Q	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	862	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle	p.Q862*(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACTTCTAGACTGAATATTGT	0.423000														32			5		0	0	0.001168	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476511	140476511	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:140476511G>A	uc003lil.3	+	0	2275	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	PCDHB2_uc003lim.1_Missense_Mutation_p.V374M	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	713					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A712V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTGGCGGTGCGGCTGTG	0.697000														45			7		0	0	0.004482	0	0
MYBPH	4608	broad.mit.edu	37	1	203138109	203138109	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:203138109C>T	uc001gzh.1	-	8	1401	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	448	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		ACCCCAGAATCAAAGGGGCTG	0.562000														51			6		0	0	0.001168	0	0
RBM19	9904	broad.mit.edu	37	12	114386828	114386828	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:114386828G>A	uc009zwi.2	-	9	1230	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	RBM19_uc001tvn.4_Silent_p.I362I|RBM19_uc001tvm.3_Silent_p.I362I|TRNA_Pseudo_uc021rec.1_5'Flank	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	362	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGAACACCTCGATGTAGCGCC	0.567000														42			6		0	0	0.001984	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857061	9857061	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:9857061G>A	uc010uym.2	-	13	4650	c.4340C>T	c.(4339-4341)tCc>tTc	p.S1447F	GRIN2A_uc002czo.4_Missense_Mutation_p.S1447F|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1447					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTGCTGCAGGAATTTAAAAC	0.378000														20			4		0	0	0.000602	0	0
DIS3L2	129563	broad.mit.edu	37	2	233195473	233195473	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:233195473C>T	uc010fxz.3	+	15	2273	c.1997C>T	c.(1996-1998)tCc>tTc	p.S666F	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	666							RNA binding|exonuclease activity|ribonuclease activity	p.S666F(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AACATGTGCTCCCGGCCCATG	0.597000														55			6		0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	32834585	32834585	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:32834585C>T	uc004dda.1	-	6	774	c.530_splice	c.e6+1	p.R177_splice	DMD_uc004dcz.2_Splice_Site_p.R54_splice|DMD_uc004dcy.1_Splice_Site_p.R173_splice|DMD_uc004ddb.1_Splice_Site_p.R169_splice|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Splice_Site_p.R169_splice|DMD_uc010ngp.1_Splice_Site_p.R54_splice|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	177	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTTCTTACCTATGACTATG	0.393000														45			6		0	0	0.001168	0	0
SLIT3	6586	broad.mit.edu	37	5	168201324	168201324	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:168201324T>C	uc010jjg.3	-	12	1631	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S	SLIT3_uc003mab.3_Missense_Mutation_p.N404S|SLIT3_uc010jji.2_Missense_Mutation_p.N404S|SLIT3_uc003mac.1_Missense_Mutation_p.N201S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	404					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.Q403E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAAGTTGAGGTTCTGCAGGTC	0.532000														107			10		0	0	0.000673	0	0
C4orf37	285555	broad.mit.edu	37	4	98902377	98902377	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:98902377C>T	uc003htt.2	-	5	795	c.705G>A	c.(703-705)ctG>ctA	p.L235L		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	235										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		GAATATTTTTCAGTCCTGATG	0.393000														70			7		0	0	0.003080	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648405	62648405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:62648405G>A	uc001jli.3	-	6	1459	c.1021C>T	c.(1021-1023)Cct>Tct	p.P341S	RHOBTB1_uc009xpe.2_Missense_Mutation_p.P279S|RHOBTB1_uc001jlh.3_Missense_Mutation_p.P341S|RHOBTB1_uc001jlj.3_Missense_Mutation_p.P341S|RHOBTB1_uc001jlk.3_Missense_Mutation_p.P341S	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	341	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TCGGCCTGAGGAATCCTAGGC	0.572000														29			5		0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158639575	158639575	+	Splice_Site	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:158639575G>A	uc001fst.1	-	13	1799	c.1600_splice	c.e13-1	p.T534_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	534					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTGTCTACAGTCTGAAAAAA	0.403000														53			6		0	0	0.001168	0	0
DEPDC5	9681	broad.mit.edu	37	22	32200848	32200848	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:32200848C>T	uc011alu.2	+	16	1366	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	DEPDC5_uc011als.2_Silent_p.P388P|DEPDC5_uc003als.3_Silent_p.P388P|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.P388P|DEPDC5_uc003alr.2_Silent_p.P388P|DEPDC5_uc011alt.2_Silent_p.P360P	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	388					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGAGTGCTCCCCGTGATTCTC	0.448000														108			9		0	0	0.000978	0	0
COL11A1	1301	broad.mit.edu	37	1	103385889	103385889	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:103385889G>A	uc001dum.3	-	48	4094	c.3776C>T	c.(3775-3777)tCa>tTa	p.S1259L	COL11A1_uc001duk.3_Missense_Mutation_p.S443L|COL11A1_uc001dul.3_Missense_Mutation_p.S1247L|COL11A1_uc001dun.3_Missense_Mutation_p.S1208L|COL11A1_uc009weh.3_Missense_Mutation_p.S1131L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1247	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCACCAACTGAACCAACAGA	0.363000														92			7		0	0	0.004482	0	0
FBXO3	26273	broad.mit.edu	37	11	33777442	33777442	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:33777442G>A	uc001muz.3	-	4	581	c.553C>T	c.(553-555)Cag>Tag	p.Q185*	FBXO3_uc010rej.2_5'Flank|FBXO3_uc001muy.3_Nonsense_Mutation_p.Q72*|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Nonsense_Mutation_p.Q185*|FBXO3_uc001mvb.1_Nonsense_Mutation_p.Q180*|FBXO3_uc010rek.1_Intron	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	185					proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		TGTCTCTGCTGGAATCCTCCG	0.458000														23			4		0	0	0.000248	0	0
MUC13	56667	broad.mit.edu	37	3	124646657	124646657	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:124646657G>A	uc003ehq.2	-	1	272	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	78	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AATTGTGGAGGAACTATGTGT	0.448000														109			7		0	0	0.003080	0	0
ZAN	7455	broad.mit.edu	37	7	100358106	100358106	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100358106C>T	uc003uwj.3	+	18	3954	c.3789C>T	c.(3787-3789)ttC>ttT	p.F1263F	ZAN_uc003uwk.3_Silent_p.F1263F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1263	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.F1263F(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGACGGAGTTCGGTTTGCGGG	0.587000														38			8		0	0	0.003080	0	0
SIDT1	54847	broad.mit.edu	37	3	113286433	113286433	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:113286433C>T	uc021xcn.1	+	2	1042	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	SIDT1_uc011bif.1_Non-coding_Transcript|SIDT1_uc003eak.3_Missense_Mutation_p.P131S|SIDT1_uc011big.2_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	Homo sapiens SID1 transmembrane family, member 1 (SIDT1), mRNA.	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CACCTTATGTCCCTCAGAAGC	0.473000														56			5		0	0	0.000602	0	0
LRIT2	340745	broad.mit.edu	37	10	85984764	85984764	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:85984764C>T	uc010qmc.2	-	1	225	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	LRIT2_uc001kcy.3_Missense_Mutation_p.G73R	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	73						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						ATGAAAGACCCTTGGGGCATC	0.463000														59			5		0	0	0.000602	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639405	149639405	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:149639405G>A	uc011mxu.2	+	2	1795	c.1485G>A	c.(1483-1485)atG>atA	p.M495I	MAMLD1_uc011mxt.1_Missense_Mutation_p.M482I|MAMLD1_uc004fee.2_Missense_Mutation_p.M520I|MAMLD1_uc011mxv.2_Missense_Mutation_p.M495I|MAMLD1_uc011mxw.2_Missense_Mutation_p.M447I	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	520	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGAGCATGATCATGCAGC	0.522000														45			5		0	0	0.000602	0	0
OR5D13	390142	broad.mit.edu	37	11	55541798	55541798	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:55541798G>A	uc010ril.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R295R(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACAGCCTTAGGAACAAAGATA	0.348000														19			4		0	0	0.000248	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103194685	103194685	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:103194685C>T	uc001phn.1	+	82	12171	c.12027C>T	c.(12025-12027)atC>atT	p.I4009I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I4002I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	4002					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCCAATATCGCTCGCTCAT	0.388000														22			4		0	0	0.000602	0	0
PRPF4B	8899	broad.mit.edu	37	6	4032432	4032432	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:4032432C>T	uc003mvv.3	+	1	772	c.681C>T	c.(679-681)tcC>tcT	p.S227S	PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	227	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAAGCCCATCCAAAAGAAGTA	0.388000														131			11		0	0	0.001855	0	0
BCL11A	53335	broad.mit.edu	37	2	60688288	60688288	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:60688288C>T	uc002sae.1	-	3	1987	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	BCL11A_uc002sab.3_Missense_Mutation_p.E587K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.E256K|BCL11A_uc010ypj.2_Missense_Mutation_p.E553K|BCL11A_uc002sad.1_Missense_Mutation_p.E435K|BCL11A_uc002saf.1_Missense_Mutation_p.E553K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	587					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			ACCGAGTCTTCGTCGCAAGTG	0.672000			T	IGH@	B-CLL									104			8		0	0	0.003080	0	0
C7orf10	79783	broad.mit.edu	37	7	40220591	40220591	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:40220591T>G	uc022acd.1	+	1	191	c.167T>G	c.(166-168)cTa>cGa	p.L56R	C7orf10_uc003thn.2_Missense_Mutation_p.L56R|C7orf10_uc003tho.2_Missense_Mutation_p.L56R	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	56							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTCTGGATCTAACAAGGTTT	0.284000														189			15		0	0	0.004990	0	0
PFN4	375189	broad.mit.edu	37	2	24345367	24345367	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:24345367C>A	uc002rfa.1	-	1	215	c.39G>T	c.(37-39)ttG>ttT	p.L13F	LOC375190_uc002rew.3_Intron|LOC375190_uc010ykl.2_5'Flank|LOC375190_uc002rfb.2_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	Homo sapiens profilin family, member 4 (PFN4), mRNA.	13					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTTGGTTCCCAAGAGGGTGT	0.453000														82			7		0.00448238	0.00928808	0.004482	1	0
FAM58BP	339521	broad.mit.edu	37	1	200182842	200182843	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:200182842_200182843CC>TT	uc009wzi.1	+	0	187_188	c.151_152CC>TT	c.(151-153)ccc>TTc	p.P51F		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	51					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCAGTCCATTCCCATTGCCACT	0.579000														41			5		0	0	0.004672	0	0
LYST	1130	broad.mit.edu	37	1	235955205	235955205	+	Missense_Mutation	SNP	C	T	T	rs111722949	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:235955205C>T	uc001hxj.2	-	11	4512	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Missense_Mutation_p.R1446Q	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1446					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAAAGCAGCCGATGGGGAAA	0.493000														45			6		0	0	0.001168	0	0
CLCN1	1180	broad.mit.edu	37	7	143027910	143027910	+	Missense_Mutation	SNP	G	A	A	rs118066140	byFrequency	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:143027910G>A	uc003wcr.1	+	7	986	c.899G>A	c.(898-900)cGg>cAg	p.R300Q	CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Missense_Mutation_p.G96R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	300			R -> Q.		muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.V299G(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTTGCTGTTCGGAACTACTGG	0.557000														35			6		0	0	0.003080	0	0
LARP7	51574	broad.mit.edu	37	4	113567957	113567958	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:113567957_113567958CC>AA	uc003iaz.3	+	6	884_885	c.419_420CC>AA	c.(418-420)ccc>cAA	p.P140Q	LARP7_uc003iay.3_Missense_Mutation_p.P133Q|LARP7_uc003iba.3_Missense_Mutation_p.P54Q|LARP7_uc003ibb.3_Missense_Mutation_p.P133Q	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	133	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	RNA binding|nucleotide binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGTTACTTCCCAAAAATGTTA	0.292000														75			7		0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152287815	152287815	+	Missense_Mutation	SNP	C	T	T	rs147859388	by1000genomes	TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:152287815C>T	uc001ezu.1	-	1	154	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	40	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCGAAATTCCTTTTCCAGA	0.328000									Ichthyosis					78			5		0	0	0.001984	0	0
GRM3	2913	broad.mit.edu	37	7	86468786	86468786	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86468786C>T	uc003uid.3	+	3	3055	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F524F|GRM3_uc010leh.3_Silent_p.F244F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	652					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGAGTTCCTTCGCTATCTGTT	0.532000														59			12		0	0	0.001855	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994653	140994653	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:140994653C>T	uc004fbt.3	+	3	1787	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S147F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	488							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCTCCACTTTA	0.483000										HNSCC(15;0.026)				116			7		0	0	0.003080	0	0
FAM5B	57795	broad.mit.edu	37	1	177250392	177250392	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:177250392C>T	uc001glf.3	+	7	2392	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	FAM5B_uc001glg.3_Missense_Mutation_p.P589S	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	694						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCCTTTGACCCAGATGCTAT	0.488000														73			6		0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32010370	32010370	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:32010370G>A	uc003nzl.2	-	39	12268	c.12066C>T	c.(12064-12066)atC>atT	p.I4022I	TNXB_uc003nzg.1_Silent_p.I453I|TNXB_uc003nzh.1_Silent_p.I491I	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	4069	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGAAGGGGATCCGCAGCC	0.701000														30			4		0	0	0.001984	0	0
SORT1	6272	broad.mit.edu	37	1	109898080	109898080	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:109898080C>A	uc001dxm.2	-	3	501	c.452G>T	c.(451-453)gGg>gTg	p.G151V	SORT1_uc010ovi.2_Missense_Mutation_p.G15V|SORT1_uc009wfb.2_Missense_Mutation_p.G15V	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	151					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AAAGTTCTTCCCATAATCCTC	0.418000														141			8		0.000673444	0.00140933	0.000673	1	0
AMMECR1L	83607	broad.mit.edu	37	2	128627089	128627089	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:128627089G>A	uc002tpl.3	-	5	914	c.663C>T	c.(661-663)ttC>ttT	p.F221F	AMMECR1L_uc002tpm.3_Silent_p.F221F	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	221	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TTTCATTAATGAATTCAATTC	0.368000														38			5		0	0	0.001168	0	0
ADAM29	11086	broad.mit.edu	37	4	175898378	175898378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:175898378C>T	uc003iuc.3	+	4	2372	c.1702C>T	c.(1702-1704)Cat>Tat	p.H568Y	ADAM29_uc003iud.3_Missense_Mutation_p.H568Y|ADAM29_uc010irr.3_Missense_Mutation_p.H568Y|ADAM29_uc011cki.2_Missense_Mutation_p.H568Y|ADAM29_uc021xuo.1_Missense_Mutation_p.H568Y	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	568	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TATGAGTGATCATACTACTGT	0.393000														47			5		0	0	0.001168	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118097	118097	+	RNA	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrGL000205.1:118097T>C	uc002kgk.4	+	0		c.1475T>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAATCTCATCTGCACTCCTCT	0.572000														22			3		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100678710	100678710	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:100678710C>T	uc003uxp.1	+	2	4066	c.4013C>T	c.(4012-4014)cCt>cTt	p.P1338L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1338	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAAGAACTCCTTTAACAAGT	0.458000														150			9		0	0	0.004482	0	0
HTR1E	3354	broad.mit.edu	37	6	87725541	87725541	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:87725541C>T	uc003pli.3	+	1	1192	c.489C>T	c.(487-489)caC>caT	p.H163H	HTR1E_uc021zcg.1_Silent_p.H163H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	163					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGAGAAGCCACCGCCGCCTAA	0.562000														38			5		0	0	0.001168	0	0
APOB	338	broad.mit.edu	37	2	21236264	21236264	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21236264G>A	uc002red.3	-	24	4112	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1328					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGCAGATGGAATCCCACAG	0.468000														146			15		0	0	0.002450	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604093	54604093	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:54604093G>A	uc003dhf.3	+	7	898	c.850G>A	c.(850-852)Gat>Aat	p.D284N	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.D190N|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.D18N	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	284	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ATCCATTTTGGATACACTTGG	0.448000														95			7		0	0	0.003080	0	0
GLMN	11146	broad.mit.edu	37	1	92732271	92732271	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:92732271G>A	uc001dor.3	-	11	1241	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Intron	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	376					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		GTCTCAATGGGGCAAAGTGTC	0.269000									Multiple Glomus Tumors (of the Skin), Familial					47			4		0	0	0.000248	0	0
LRP4	4038	broad.mit.edu	37	11	46911511	46911511	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:46911511G>A	uc001ndn.4	-	14	2319	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	692					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTGGCGCTGGGGGTGCAAGG	0.522000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			5		0	0	0.000602	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212336	26212336	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:26212336G>A	uc022buc.1	+	0	373	c.373G>A	c.(373-375)Gat>Aat	p.D125N	MAGEB6_uc004dbr.3_Missense_Mutation_p.D125N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	125	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCAAAATATGATGTGGCTGC	0.552000														54			6		0	0	0.001168	0	0
TKTL2	84076	broad.mit.edu	37	4	164393292	164393292	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:164393292G>A	uc003iqp.4	-	0	1756	c.1595C>T	c.(1594-1596)tCt>tTt	p.S532F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	532						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACACGGACAGAAATACCTTG	0.498000														69			7		0	0	0.003080	0	0
ZFP42	132625	broad.mit.edu	37	4	188924289	188924289	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:188924289G>T	uc003izh.1	+	3	736	c.328G>T	c.(328-330)Gtt>Ttt	p.V110F	ZFP42_uc003izi.1_Missense_Mutation_p.V110F|ZFP42_uc021xvm.1_Missense_Mutation_p.V110F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	110					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TTCTCAAAAGGTTTTCGAAGC	0.403000														59			6		0.00116845	0.00244253	0.001168	1	0
LRP2	4036	broad.mit.edu	37	2	170097612	170097612	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:170097612G>A	uc002ues.3	-	24	4144	c.3931C>T	c.(3931-3933)Cgc>Tgc	p.R1311C	LRP2_uc010zdf.1_Missense_Mutation_p.R1174C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1311	LDL-receptor class A 15.				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)	CTAGGACAGCGAAAGGGCTGA	0.517000														32			4		0	0	0.000248	0	0
RNASE10	338879	broad.mit.edu	37	14	20978697	20978697	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20978697C>T	uc001vxp.2	+	1	555	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	RNASE10_uc010tlj.2_Silent_p.L23L	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	23						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		ggggatgggcctggggttggg	0.522000														69			5		0	0	0.001168	0	0
FBXO25	26260	broad.mit.edu	37	8	400073	400073	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:400073C>T	uc003wox.3	+	5	731	c.465C>T	c.(463-465)atC>atT	p.I155I	FBXO25_uc003woy.3_Silent_p.I155I|FBXO25_uc003woz.3_Silent_p.I88I|FBXO25_uc003wpa.3_5'UTR	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	155						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		TGGATAAAATCGTTCAAAAGG	0.343000														84			9		0	0	0.004482	0	0
CGNL1	84952	broad.mit.edu	37	15	57743753	57743753	+	Missense_Mutation	SNP	C	T	T	rs111516593		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:57743753C>T	uc010bfw.3	+	5	2052	c.1859C>T	c.(1858-1860)aCc>aTc	p.T620I	CGNL1_uc002aeg.3_Missense_Mutation_p.T620I	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	620						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAAGTTGACCATAGAagtg	0.348000														56			9		0	0	0.004482	0	0
NUP210	23225	broad.mit.edu	37	3	13363271	13363271	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:13363271C>T	uc003bxv.1	-	35	5063	c.4980G>A	c.(4978-4980)atG>atA	p.M1660I		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1660					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGTCTTCTTCATGCTCAGGT	0.592000														94			10		0	0	0.000673	0	0
OR2G6	391211	broad.mit.edu	37	1	248685183	248685183	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248685183C>T	uc001ien.1	+	0	236	c.236C>T	c.(235-237)cCa>cTa	p.P79L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGTGTTGCCCCACAGTTGCTG	0.507000														35			5		0	0	0.000602	0	0
ANK3	288	broad.mit.edu	37	10	61829548	61829548	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:61829548G>A	uc001jky.3	-	36	11429	c.11091C>T	c.(11089-11091)tcC>tcT	p.S3697S	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3697					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGCCACTACTGGATGTGCCTT	0.502000														47			9		0	0	0.000443	0	0
MYH13	8735	broad.mit.edu	37	17	10210258	10210258	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr17:10210258C>T	uc002gmk.1	-	35	5383	c.5293G>A	c.(5293-5295)Gat>Aat	p.D1765N		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1765					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGCTCACATCCGTGATGGCC	0.517000														44			7		0	0	0.001984	0	0
VPS35	55737	broad.mit.edu	37	16	46695716	46695716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:46695716G>A	uc002eef.4	-	15	2224	c.2125C>T	c.(2125-2127)Cag>Tag	p.Q709*	VPS35_uc002eed.3_3'UTR|VPS35_uc002eee.3_Nonsense_Mutation_p.Q670*	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	709					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCCATGCACTGATTTGCTATT	0.373000														78			11		0	0	0.001855	0	0
FAM83C	128876	broad.mit.edu	37	20	33876639	33876639	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:33876639G>A	uc021wck.1	-	1	754	c.636C>T	c.(634-636)ttC>ttT	p.F212F	FAM83C_uc002xcb.1_Silent_p.F36F	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	212										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)			ACATCTCCAGGAAGTGCCTCA	0.612000														41			5		0	0	0.000602	0	0
KRTDAP	388533	broad.mit.edu	37	19	35978355	35978355	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:35978355C>T	uc002nzh.3	-	5	364	c.275G>A	c.(274-276)aGg>aAg	p.R92K	KRTDAP_uc021uso.1_Missense_Mutation_p.R78K	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	92					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGTTGCGCTCCTCAGTCCTTT	0.562000														44			4		0	0	0.000602	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584592	145584592	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:145584592G>T	uc003zcc.2	+	4	1419	c.1255G>T	c.(1255-1257)Ggc>Tgc	p.G419C	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.G419C|SLC52A2_uc010mfy.2_Missense_Mutation_p.G419C|SLC52A2_uc011llc.2_Missense_Mutation_p.G331C|SLC52A2_uc003zcd.2_Missense_Mutation_p.G419C	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	419						integral to plasma membrane	receptor activity|riboflavin transporter activity										CTCTCTGCTCGGCGCTGTTGC	0.652000														50			5		0.00198382	0.00412878	0.001984	1	0
DLG2	1740	broad.mit.edu	37	11	84996410	84996410	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr11:84996410C>T	uc001pak.2	-	4	353	c.41_splice	c.e4-1	p.D14_splice		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TCTTGGATATCTGTAAAGAAA	0.318000														38			5		0	0	0.001984	0	0
EMR1	2015	broad.mit.edu	37	19	6913740	6913740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:6913740C>T	uc002mfw.3	+	10	1237	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	EMR1_uc010dvc.3_Missense_Mutation_p.S400F|EMR1_uc010dvb.3_Missense_Mutation_p.S348F|EMR1_uc010xji.2_Missense_Mutation_p.S259F|EMR1_uc010xjj.2_Missense_Mutation_p.S223F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	400	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAGACGTCCTCCCTGGCCACA	0.463000														59			5		0	0	0.001168	0	0
SYNE2	23224	broad.mit.edu	37	14	64655272	64655272	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:64655272C>T	uc001xgl.3	+	97	17947	c.17717C>T	c.(17716-17718)gCc>gTc	p.A5906V	SYNE2_uc001xgm.3_Missense_Mutation_p.A5906V|SYNE2_uc010apy.3_Missense_Mutation_p.A2291V|SYNE2_uc001xgn.3_Missense_Mutation_p.A868V|SYNE2_uc021rui.1_Missense_Mutation_p.A764V|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_Missense_Mutation_p.A271V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5906					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCAGGTGGCCATACGTAAA	0.398000														41			4		0	0	0.001984	0	0
PTGER3	5733	broad.mit.edu	37	1	71318540	71318540	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:71318540C>T	uc001dfk.1	-	3	1338	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Silent_p.E360E	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	0					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			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CCCAAAATTCCTCCTGGAAAA	0.318000														116			8		0	0	0.000978	0	0
CADPS	8618	broad.mit.edu	37	3	62535683	62535683	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:62535683G>A	uc003dll.2	-	10	2221	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_uc003dlk.1_Missense_Mutation_p.R125W|CADPS_uc003dlm.2_Missense_Mutation_p.R621W|CADPS_uc003dln.2_Missense_Mutation_p.R621W|CADPS_uc021wzv.1_Missense_Mutation_p.R621W	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	621	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCGTGGCCCGATACATGGCC	0.577000														36			5		0	0	0.000602	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105360908	105360908	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:105360908C>T	uc003ylx.1	+	1	177	c.128C>T	c.(127-129)tCa>tTa	p.S43L		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	43					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											GCTCTTATTTCAGTGGGCCTC	0.512000														49			6		0	0	0.001984	0	0
CAPN6	827	broad.mit.edu	37	X	110494810	110494810	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:110494810C>T	uc004epc.2	-	5	1051	c.860G>A	c.(859-861)gGa>gAa	p.G287E	CAPN6_uc011msu.2_Missense_Mutation_p.G32E	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	287	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.G287R(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCCTGTCTTCCCAAGGGGTT	0.488000														100			8		0	0	0.003080	0	0
C6orf211	79624	broad.mit.edu	37	6	151789731	151789731	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:151789731C>T	uc003qok.1	+	4	1071	c.812C>T	c.(811-813)tCc>tTc	p.S271F	C6orf211_uc011ees.1_Missense_Mutation_p.S152F	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	271							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTCTTGTTGTCCTCTGAACTG	0.328000														113			10		0	0	0.000443	0	0
TMC5	79838	broad.mit.edu	37	16	19477414	19477414	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:19477414G>A	uc002dgc.4	+	8	2245	c.1496G>A	c.(1495-1497)aGg>aAg	p.R499K	TMC5_uc010vaq.2_Missense_Mutation_p.R499K|TMC5_uc002dgb.4_Missense_Mutation_p.R499K|TMC5_uc010var.2_Missense_Mutation_p.R499K|TMC5_uc002dgd.1_Missense_Mutation_p.R253K|TMC5_uc002dge.4_Missense_Mutation_p.R253K|TMC5_uc002dgf.4_Missense_Mutation_p.R182K|TMC5_uc002dgg.4_Missense_Mutation_p.R140K	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	499						integral to membrane		p.S498T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGTTATTTTAGGGACACAGTG	0.448000														17			5		0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21229048	21229048	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:21229048C>T	uc002red.3	-	25	10820	c.10692G>A	c.(10690-10692)gaG>gaA	p.E3564E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3564					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCGTACTGTGCTCCCAGAGGG	0.458000														163			15		0	0	0.004007	0	0
TMEM67	91147	broad.mit.edu	37	8	94809438	94809438	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr8:94809438G>A	uc011lgk.2	+	18	2008	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	TMEM67_uc010maw.2_Missense_Mutation_p.G352E|TMEM67_uc003yga.4_Missense_Mutation_p.G565E|TMEM67_uc011lgl.2_Missense_Mutation_p.G45E	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	646					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			CGACCTAAAGGAAAGGTTCTT	0.328000														37			5		0	0	0.000602	0	0
CFHR5	81494	broad.mit.edu	37	1	196971782	196971782	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:196971782C>T	uc001gts.4	+	7	1446	c.1318C>T	c.(1318-1320)Cca>Tca	p.P440S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	440	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GCAATCATTACCACGCTGTGT	0.323000														23			4		0	0	0.000602	0	0
TEP1	7011	broad.mit.edu	37	14	20876479	20876479	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:20876479G>A	uc001vxe.3	-	1	160	c.120C>T	c.(118-120)acC>acT	p.T40T	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.T40T	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	40					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TATCTGAGTGGGTAGATACAT	0.517000														60			5		0	0	0.000602	0	0
ZC3H13	23091	broad.mit.edu	37	13	46549517	46549517	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr13:46549517C>A	uc010tfw.1	-	10	2375	c.2369G>T	c.(2368-2370)tGg>tTg	p.W790L	ZC3H13_uc001vas.1_Missense_Mutation_p.W790L|ZC3H13_uc001vat.1_Missense_Mutation_p.W790L	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	790	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.W790L(2)|p.W790*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTGTCTTCCCAATCCCTTTG	0.488000														80			6		0.00198382	0.00412878	0.001984	1	0
NIN	51199	broad.mit.edu	37	14	51224444	51224444	+	Silent	SNP	A	G	G			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:51224444A>G	uc001wyi.3	-	17	3495	c.3304T>C	c.(3304-3306)Tta>Cta	p.L1102L	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.L1102L|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.L1102L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1102					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GACATTACTAACCCTGGCTCT	0.418000			T	PDGFRB	MPD									113			8		0	0	0.003080	0	0
POT1	25913	broad.mit.edu	37	7	124503575	124503575	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:124503575G>A	uc003vlm.3	-	7	976	c.375C>T	c.(373-375)ttC>ttT	p.F125F	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	125					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.F125F(6)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTCAGTAGTGAAGTTAAAAT	0.443000														33			5		0	0	0.000602	0	0
PTPRC	5788	broad.mit.edu	37	1	198665998	198665998	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:198665998C>T	uc001gur.1	+	3	432	c.252C>T	c.(250-252)tcC>tcT	p.S84S	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Silent_p.S86S|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Silent_p.S127S|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	84					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAAGTATCCCCGGACTCTT	0.408000														64			8		0	0	0.000443	0	0
AMPD2	271	broad.mit.edu	37	1	110171047	110171048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110171047_110171048CC>TT	uc009wfh.1	+	11	2041_2042	c.1499_1500CC>TT	c.(1498-1500)tcc>tTT	p.S500F	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.S419F|AMPD2_uc001dyc.1_Missense_Mutation_p.S500F|AMPD2_uc010ovr.1_Missense_Mutation_p.S425F|AMPD2_uc010ovs.1_Missense_Mutation_p.S382F|AMPD2_uc001dyd.1_Missense_Mutation_p.S381F|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	500					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATTGGGGAGTCCGTCCTCCGAG	0.525000														49			7		0	0	0.004672	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092698	151092698	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:151092698G>A	uc022cgv.1	+	0	562	c.562G>A	c.(562-564)Gat>Aat	p.D188N	MAGEA4_uc004fez.3_Missense_Mutation_p.D188N|MAGEA4_uc004ffa.3_Missense_Mutation_p.D188N|MAGEA4_uc004ffb.3_Missense_Mutation_p.D188N|MAGEA4_uc022cgu.1_Missense_Mutation_p.D216N|MAGEA4_uc004ffc.3_Missense_Mutation_p.D188N|MAGEA4_uc004ffd.3_Missense_Mutation_p.D188N	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	188	MAGE.						protein binding	p.Y187C(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCCTATGATGGCCTGCT	0.547000														78			7		0	0	0.003080	0	0
PLK4	10733	broad.mit.edu	37	4	128812330	128812330	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:128812330G>A	uc003ifo.3	+	7	2188	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	PLK4_uc011cgs.2_Silent_p.Q606Q|PLK4_uc011cgt.2_Silent_p.Q597Q|U6_uc021xrr.1_5'Flank	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	638					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAGTTCTTCAGATATCTAGTG	0.328000														50			7		0	0	0.001984	0	0
SMG1	23049	broad.mit.edu	37	16	18846287	18846287	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr16:18846287G>A	uc002dfm.3	-	48	8620	c.8257C>T	c.(8257-8259)Ctt>Ttt	p.L2753F	SMG1_uc010bwb.3_Missense_Mutation_p.L2613F|SMG1_uc010bwa.3_Missense_Mutation_p.L1484F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2753					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTCATGAAGGAAAACTTTA	0.393000														120			6		0	0	0.001984	0	0
THOC2	57187	broad.mit.edu	37	X	122769982	122769982	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:122769982C>T	uc004etu.3	-	18	1998	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N	THOC2_uc011muh.1_Missense_Mutation_p.D581N	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	656					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAGCAAGATCAATTGGATAT	0.328000														55			7		0	0	0.000443	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169711967	169711967	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:169711967G>A	uc002ueg.3	+	10	1227	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	NOSTRIN_uc002uef.3_Missense_Mutation_p.E378K|NOSTRIN_uc002ueh.3_Missense_Mutation_p.E243K|NOSTRIN_uc010fpu.3_Missense_Mutation_p.E293K|NOSTRIN_uc002uek.3_5'Flank	NM_001039724	NP_443178	Q8IVI9	NOSTN_HUMAN	Homo sapiens nitric oxide synthase trafficker (NOSTRIN), transcript variant 2, mRNA.	321					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAAGACAAGGAAGGTGTGTA	0.393000														27			5		0	0	0.000602	0	0
ASMT	438	broad.mit.edu	37	X	1755428	1755428	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:1755428G>A	uc004cqd.3	+	8	1101	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ASMT_uc010ncy.3_Silent_p.E295E|ASMT_uc004cqe.3_Silent_p.E220E	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	267					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGCTGGAGAGGATCTACC	0.527000														149			10		0	0	0.000673	0	0
GNAT2	2780	broad.mit.edu	37	1	110152749	110152749	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:110152749G>A	uc001dya.3	-	2	429	c.216C>T	c.(214-216)atC>atT	p.I72I		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	72					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTCCATAGATGATAGCCTTGA	0.502000														78			7		0	0	0.001984	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258323	45258323	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr22:45258323C>T	uc003bfd.3	+	16	2057	c.1780C>T	c.(1780-1782)Ccg>Tcg	p.P594S	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.P506S|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.P437S|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.P415S|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.P384S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						CTTCAGCACCCCGGAGGCACC	0.622000														19			4		0	0	0.000248	0	0
GRM3	2913	broad.mit.edu	37	7	86468465	86468465	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:86468465C>T	uc003uid.3	+	3	2734	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.T417T|GRM3_uc010leh.3_Silent_p.T137T	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	545					synaptic transmission	integral to plasma membrane		p.T545S(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGAGTTTACCTGTATGGATT	0.527000														32			10		0	0	0.000673	0	0
DEFB115	245929	broad.mit.edu	37	20	29847349	29847349	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:29847349G>A	uc002wvp.1	+	1	181	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	61					defense response to bacterium	extracellular region		p.G60G(1)		kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			AAAATGTGGGGAAAAACATAT	0.373000														10			4		0	0	0.000248	0	0
LPA	4018	broad.mit.edu	37	6	160998240	160998240	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr6:160998240C>T	uc003qtl.3	-	28	4679	c.4559G>A	c.(4558-4560)gGa>gAa	p.G1520E		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4028	Kringle 14.				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)	ACAGGTCCTTCCTGTGACAGT	0.458000														50			5		0	0	0.001168	0	0
C19orf55	148137	broad.mit.edu	37	19	36256040	36256040	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:36256040C>T	uc021usz.1	+	6	805	c.732C>T	c.(730-732)atC>atT	p.I244I		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	244	Ser-rich.									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)			AGACCTTCATCCCTGACTCCA	0.627000														21			5		0	0	0.000602	0	0
SLC4A4	8671	broad.mit.edu	37	4	72222842	72222842	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr4:72222842C>T	uc010iic.3	+	5	785	c.668C>T	c.(667-669)tCc>tTc	p.S223F	SLC4A4_uc003hfy.3_Missense_Mutation_p.S223F|SLC4A4_uc010iib.3_Missense_Mutation_p.S223F|SLC4A4_uc003hfz.3_Missense_Mutation_p.S223F|SLC4A4_uc003hgc.4_Missense_Mutation_p.S179F|SLC4A4_uc003hga.2_Missense_Mutation_p.S101F|SLC4A4_uc003hgb.3_Missense_Mutation_p.S179F	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	223						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AACCTTCGGTCCCTGGCTGAC	0.483000														33			5		0	0	0.000602	0	0
OTUD7A	161725	broad.mit.edu	37	15	31822961	31822961	+	Missense_Mutation	SNP	G	A	A	rs146170863		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr15:31822961G>A	uc001zfq.3	-	3	694	c.601C>T	c.(601-603)Cct>Tct	p.P201S	OTUD7A_uc001zfr.3_Missense_Mutation_p.P201S	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	201	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding	p.P201S(2)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTGGCCAGAGGAAGAAGCCGT	0.557000														38			5		0	0	0.003080	0	0
DPPA2	151871	broad.mit.edu	37	3	109031534	109031534	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr3:109031534G>A	uc003dxo.3	-	2	286	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	13						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCCCTCCAAGAAATTCTGGA	0.398000														45			5		0	0	0.001168	0	0
OR2M2	391194	broad.mit.edu	37	1	248344204	248344204	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:248344204G>A	uc010pzf.2	+	0	917	c.917G>A	c.(916-918)gGa>gAa	p.G306E		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G306V(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAGATCTTAGGAAAGGGCAAG	0.398000														103			7		0	0	0.003080	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10911994	10911994	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:10911994A>T	uc002ras.3	+	6	609	c.500A>T	c.(499-501)gAt>gTt	p.D167V	ATP6V1C2_uc002rat.3_Missense_Mutation_p.D167V	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	167					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		ACACTGAGTGATATTGTGAGC	0.527000														85			7		0	0	0.004482	0	0
MTMR12	54545	broad.mit.edu	37	5	32248159	32248159	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr5:32248159G>A	uc003jhq.3	-	9	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	MTMR12_uc010iuk.3_Silent_p.L324L|MTMR12_uc010iul.3_Silent_p.L324L	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	324	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTTCCTGCAGGGACAGGAAG	0.378000														36			4		0	0	0.001168	0	0
GRM8	2918	broad.mit.edu	37	7	126173281	126173281	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:126173281G>A	uc003vlr.2	-	7	2466	c.2155C>T	c.(2155-2157)Ccc>Tcc	p.P719S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.P719S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	719					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGATGTGGGGGGGATCCACA	0.512000										HNSCC(24;0.065)				23			4		0	0	0.000248	0	0
CTPS2	56474	broad.mit.edu	37	X	16720909	16720909	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chrX:16720909G>A	uc004cxk.3	-	1	861	c.117C>T	c.(115-117)atC>atT	p.I39I	CTPS2_uc004cxl.3_Silent_p.I39I|CTPS2_uc004cxm.3_Silent_p.I39I	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	39					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATAGGGGTCGATTTTTATGG	0.458000														90			12		0	0	0.002450	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045530	142045530	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:142045530G>A	uc003vxp.4	+	1	167	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGTCCCCATGGAAACGGGAGT	0.473000														83			6		0	0	0.000443	0	0
ZIM3	114026	broad.mit.edu	37	19	57648291	57648291	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:57648291C>T	uc002qnz.1	-	3	577	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGCTCCTTTCCTTGTTCCAA	0.522000														43			6		0	0	0.001984	0	0
INF2	64423	broad.mit.edu	37	14	105181624	105181624	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr14:105181624T>C	uc001ypb.2	+	21	3841	c.3698T>C	c.(3697-3699)gTt>gCt	p.V1233A	INF2_uc001ypc.2_Intron|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1233					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAAGCAGAGGTTCCCCCTGAT	0.552000														79			7		0	0	0.003080	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919098	12919098	+	Silent	SNP	G	A	A	rs2281065		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:12919098G>A	uc001aum.1	+	1	321	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	78										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGCCATTGAAAGCATTGC	0.567000														94			7		0	0	0.001984	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704929	23704929	+	Silent	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:23704929G>A	uc003zpu.3	-	3	749	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ELAVL2_uc003zps.3_Silent_p.V158V|ELAVL2_uc003zpt.3_Silent_p.V158V|ELAVL2_uc003zpv.3_Silent_p.V158V|ELAVL2_uc003zpw.3_Silent_p.V158V	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	158	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TGACCTGGTCGACAAGAATAC	0.428000														60			9		0	0	0.004482	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766225	14766225	+	Splice_Site	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr12:14766225C>T	uc001rcd.3	-	27	3185	c.3048_splice	c.e27-1	p.V1016_splice		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1016					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTTGATTCTCCCTGGAAACAG	0.413000														32			7		0	0	0.001984	0	0
DGKB	1607	broad.mit.edu	37	7	14378223	14378223	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:14378223C>T	uc003ssz.3	-	21	2229	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	DGKB_uc011jxt.2_Missense_Mutation_p.R662Q|DGKB_uc003sta.3_Missense_Mutation_p.R681Q|DGKB_uc011jxu.2_Missense_Mutation_p.R680Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	681					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R681*(2)|p.R681Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCGATGGCTTCGTCTTTTCTT	0.398000														36			5		0	0	0.000602	0	0
SEMG2	6407	broad.mit.edu	37	20	43851693	43851693	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr20:43851693G>A	uc010ggz.3	+	1	1477	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	SEMG2_uc002xnk.3_Missense_Mutation_p.E474K|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	474	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTCAAGTACAGAAGAAAGACG	0.383000														26			6		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179419873	179419873	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:179419873G>A	uc021vsy.1	-	279	80834	c.80609C>T	c.(80608-80610)cCt>cTt	p.P26870L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P20565L|TTN_uc021vta.1_Missense_Mutation_p.P20498L|TTN_uc021vtb.1_Missense_Mutation_p.P20373L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27797	Fibronectin type-III 95.						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)			ATCAATTACAGGACCACCTGC	0.373000														26			4		0	0	0.000248	0	0
TUBB8	347688	broad.mit.edu	37	10	93360	93360	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr10:93360C>T	uc001ifi.2	-	3	972	c.972G>A	c.(970-972)agG>agA	p.R324R		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	324					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATCCACCTCCCTCATGGGCA	0.517000														68			7		0	0	0.001984	0	0
NRXN1	9378	broad.mit.edu	37	2	51255169	51255169	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:51255169C>T	uc021vhh.1	-	0	1164	c.243G>A	c.(241-243)ctG>ctA	p.L81L	NRXN1_uc021vhg.1_Silent_p.L81L|NRXN1_uc021vhi.1_Silent_p.L81L|NRXN1_uc021vhj.1_Silent_p.L81L|NRXN1_uc021vhk.1_Silent_p.L81L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	81	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGTCAGAATCAGCTCCAGGA	0.667000														12			4		0	0	0.000602	0	0
DQX1	165545	broad.mit.edu	37	2	74750029	74750029	+	Silent	SNP	C	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr2:74750029C>T	uc010yrw.2	-	6	1422	c.1257G>A	c.(1255-1257)agG>agA	p.R419R	DQX1_uc002smc.3_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	419	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAATCTGTCTCCTTTTTAGTA	0.527000														64			6		0	0	0.001168	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915848	186915849	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr1:186915848_186915849insT	uc001gsc.3	+	10	1318_1319	c.1113_1114insT	c.(1111-1116)aaatttfs	p.K371fs	PLA2G4A_uc010pos.2_Frame_Shift_Ins_p.K311fs	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	371	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTGGAAGCAAATTTTTTATGGG	0.322													---	26	---	---	7	---					
RFC2	5982	broad.mit.edu	37	7	73654277	73654277	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:73654277delG	uc003uaj.3	-	6	709	c.684delC	c.(682-684)gacfs	p.D228fs	RFC2_uc003uak.3_Frame_Shift_Del_p.D194fs	NM_181471	NP_852136	P35250	RFC2_HUMAN	Homo sapiens replication factor C (activator 1) 2, 40kDa (RFC2), transcript variant 1, mRNA.	228					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CCTGCCTCATGTCTCCCTGGG	0.582													---	4	---	---	2	---					
FZD1	8321	broad.mit.edu	37	7	90894242	90894243	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr7:90894242_90894243delGC	uc003ula.3	+	0	460_461	c.47_48delGC	c.(46-48)ggcfs	p.G16fs		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	16					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCCGGCGGTGGCGCGAGCTGGG	0.762													---	4	---	---	2	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	-	-	rs34222232		TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr9:139277995_139277997delGCT	uc004chh.3	-	14	1633_1635	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													---	6	---	---	7	---					
HMHA1	23526	broad.mit.edu	37	19	1078032	1078032	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A3C8-06A-12D-A19A-08	TCGA-D3-A3C8-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa389195-4218-423d-bd51-379da698f458	4ec65aab-5672-4b6c-893b-7544f5ec74e3	g.chr19:1078032delG	uc002lqz.1	+	10	1593	c.1362delG	c.(1360-1362)gagfs	p.E454fs	HMHA1_uc010xgd.1_Frame_Shift_Del_p.E470fs|HMHA1_uc010xge.1_Frame_Shift_Del_p.E294fs|HMHA1_uc002lra.1_Frame_Shift_Del_p.E294fs|HMHA1_uc002lrb.1_Frame_Shift_Del_p.E337fs|HMHA1_uc002lrc.1_Frame_Shift_Del_p.E89fs	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	454					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		TGGAGGAGGAGGCCAAGAACA	0.647													---	4	---	---	2	---					
