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
ATP1A4	480	broad.mit.edu	37	1	160151515	160151515	+	Silent	SNP	G	A	A	rs61734684	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:160151515G>A	uc001fve.4	+	18	3257	c.2778G>A	c.(2776-2778)acG>acA	p.T926T	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Silent_p.T429T|ATP1A4_uc001fvh.3_Silent_p.T62T	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	926					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.Q925L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATGCCAAACGGCCTTTTTTG	0.512000														58			16		0	0	0.006122	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216919	4216919	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:4216919G>A	uc010dtt.1	+	17	2038	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	ANKRD24_uc002lzs.2_Missense_Mutation_p.G559R|ANKRD24_uc002lzt.2_Missense_Mutation_p.G560R	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	588										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CGAGGCCACGGGAGCTGAGGC	0.542000														11			5		0	0	0.000602	0	0
RASSF2	9770	broad.mit.edu	37	20	4770301	4770301	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:4770301G>C	uc002wld.3	-	6	634	c.580C>G	c.(580-582)Cgc>Ggc	p.R194G	RASSF2_uc002wlc.3_Non-coding_Transcript|RASSF2_uc002wlf.3_Missense_Mutation_p.R194G	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	194	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.R194L(2)|p.R194H(1)|p.V193V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTGTTGATGCGGACGTTGGTG	0.547000														67			15		0	0	0.007413	0	0
VAC14	55697	broad.mit.edu	37	16	70765459	70765459	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:70765459G>A	uc002ezm.3	-	13	1858	c.1600C>T	c.(1600-1602)Ctt>Ttt	p.L534F	VAC14_uc010cfw.3_Missense_Mutation_p.L300F|VAC14_uc002ezn.3_Missense_Mutation_p.L99F|VAC14_uc002ezl.3_5'UTR|VAC14_uc010cfx.1_Missense_Mutation_p.L12F	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	534					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CTCTTGAGAAGGTTGATCATG	0.488000														59			16		0	0	0.003163	0	0
NHLRC4	283948	broad.mit.edu	37	16	618057	618057	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:618057C>T	uc002chl.3	+	1	606	c.10C>T	c.(10-12)Ctg>Ttg	p.L4L	PIGQ_uc010bqw.3_Intron|NHLRC4_uc021szs.1_Silent_p.L4L|PIGQ_uc002chm.3_5'Flank|PIGQ_uc002chn.3_5'Flank|PIGQ_uc002cho.3_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	Homo sapiens NHL repeat containing 4 (NHLRC4), mRNA.	4																	CATGCTGGGTCTGGAGGGCCC	0.667000														15			5		0	0	0.001984	0	0
ATRNL1	26033	broad.mit.edu	37	10	117221540	117221540	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:117221540G>A	uc001lcg.3	+	21	3798	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	ATRNL1_uc010qsm.2_Missense_Mutation_p.E267K|ATRNL1_uc010qsn.2_Intron	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1138						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AGCAAACCCAGAACAGGTGAG	0.323000														40			7		0	0	0.001984	0	0
MARCH11	441061	broad.mit.edu	37	5	16067884	16067884	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:16067884C>T	uc003jfo.2	-	3	1118	c.905G>A	c.(904-906)gGa>gAa	p.G302E	MARCH11_uc010itw.1_Missense_Mutation_p.G58E	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	302						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						AACTGCAGCTCCTTCATGAAC	0.403000														25			6		0	0	0.001168	0	0
ZNF267	10308	broad.mit.edu	37	16	31926985	31926985	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:31926985C>T	uc002ecs.4	+	3	1624	c.1415C>T	c.(1414-1416)tCt>tTt	p.S472F		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TGTAGCAAATCTTATGCTCGT	0.348000														53			16		0	0	0.004007	0	0
HTR3E	285242	broad.mit.edu	37	3	183823756	183823756	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:183823756C>T	uc010hxr.3	+	5	1197	c.1003_splice	c.e5+1	p.G335_splice	HTR3E_uc010hxq.3_Splice_Site_p.G309_splice|HTR3E_uc003fml.4_Splice_Site_p.G294_splice|HTR3E_uc003fmm.3_Splice_Site_p.G324_splice|HTR3E_uc003fmn.3_Splice_Site_p.G309_splice	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	309						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCCCCCTCATCGGTATGGCTC	0.547000														85			18		0	0	0.008871	0	0
LOC399753	399753	broad.mit.edu	37	10	49219553	49219553	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:49219553G>A	uc001jgd.3	-	7	745	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		TTGGCAGTGGGAGGAACACTG	0.517000														149			36		0	0	0.006999	0	0
PACS1	55690	broad.mit.edu	37	11	65987269	65987269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:65987269C>T	uc001oha.2	+	7	1165	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	344					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TTTAAAGTTTCAGATGAGGTA	0.488000														38			11		0	0	0.000978	0	0
FLG2	388698	broad.mit.edu	37	1	152326903	152326903	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:152326903G>A	uc001ezw.4	-	2	3432	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1120	Ser-rich.						calcium ion binding|structural molecule activity	p.G1119V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCCGATCCATATTG	0.507000														160			43		0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192613	132192613	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:132192613G>A	uc003vra.4	-	1	1069	c.840C>T	c.(838-840)ctC>ctT	p.L280L	PLXNA4_uc003vrc.2_Silent_p.L280L|PLXNA4_uc003vrb.3_Silent_p.L280L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	280	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AAAGCCTCACGAGCTTGGATG	0.552000														35			6		0	0	0.003080	0	0
CUBN	8029	broad.mit.edu	37	10	17026170	17026170	+	Nonsense_Mutation	SNP	G	A	A	rs145661597		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:17026170G>A	uc001ioo.3	-	29	4511	c.4459C>T	c.(4459-4461)Cga>Tga	p.R1487*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1487	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCTTGAATCGAATTGCTAGC	0.498000														89			17		0	0	0.004990	0	0
MRPS9	64965	broad.mit.edu	37	2	105716142	105716142	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:105716142A>G	uc002tcn.4	+	10	1182	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	372					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACTACTTACTACTGATCCACG	0.468000														30			5		0	0	0.001168	0	0
PRMT3	10196	broad.mit.edu	37	11	20414469	20414469	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:20414469C>T	uc001mqb.3	+	4	541	c.324C>T	c.(322-324)tcC>tcT	p.S108S	PRMT3_uc001mqc.3_Silent_p.S31S|PRMT3_uc010rdn.2_Silent_p.S46S	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	108							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						ACATGAATTCCATATACAACC	0.318000														94			24		0	0	0.003954	0	0
GTF3C1	2975	broad.mit.edu	37	16	27495610	27495610	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:27495610G>A	uc002dov.2	-	24	3963	c.3923C>T	c.(3922-3924)tCt>tTt	p.S1308F	GTF3C1_uc002dou.3_Missense_Mutation_p.S1308F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1308						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTTATCCAAAGACTCTTCAAA	0.468000														44			11		0	0	0.008291	0	0
DSC2	1824	broad.mit.edu	37	18	28648938	28648938	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:28648938C>T	uc002kwl.4	-	14	2884	c.2430G>A	c.(2428-2430)agG>agA	p.R810R	DSC2_uc002kwk.4_Silent_p.R810R	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	810					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTGTCCTCCCCTGCAGGAGT	0.562000														37			21		0	0	0.002299	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576796	158576796	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158576796G>A	uc010pio.2	+	0	568	c.568G>A	c.(568-570)Gga>Aga	p.G190R		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCTAGCCTGTGGAGATACAGG	0.493000														74			22		0	0	0.002299	0	0
ROBO2	6092	broad.mit.edu	37	3	77684173	77684173	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:77684173C>T	uc011bgk.2	+	24	4568	c.3925C>T	c.(3925-3927)Cga>Tga	p.R1309*	ROBO2_uc021xat.1_Nonsense_Mutation_p.R1321*|ROBO2_uc003dpy.4_Nonsense_Mutation_p.R1305*|ROBO2_uc003dpz.3_Nonsense_Mutation_p.R1370*|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1305					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTGCCTCATCGAAGGGAAGG	0.483000														27			8		0	0	0.004482	0	0
PAPPA	5069	broad.mit.edu	37	9	118949853	118949853	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:118949853C>T	uc004bjn.3	+	1	1217	c.836C>T	c.(835-837)aCt>aTt	p.T279I	PAPPA_uc011lxp.1_Missense_Mutation_p.T72I|PAPPA_uc011lxq.2_Missense_Mutation_p.T72I	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	279	Metalloprotease.				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						GGCGCCCACACTGCTCTACCT	0.557000														61			20		0	0	0.002299	0	0
SOX2	6657	broad.mit.edu	37	3	181430308	181430308	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:181430308G>A	uc003fkx.3	+	0	597	c.160G>A	c.(160-162)Ggg>Agg	p.G54R	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	54					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			GTGGTCCCGCGGGCAGCGGCG	0.662000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME							24			7		0	0	0.004482	0	0
ZNF831	128611	broad.mit.edu	37	20	57829131	57829131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:57829131C>T	uc002yan.3	+	4	4367	c.4367C>T	c.(4366-4368)tCa>tTa	p.S1456L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1456						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCAGGATTCAGTCTCAACA	0.522000														40			13		0	0	0.001368	0	0
GPAT2	150763	broad.mit.edu	37	2	96689176	96689176	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:96689176G>A	uc002svf.3	-	17	2132	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	GPAT2_uc002sve.3_Missense_Mutation_p.R439W|GPAT2_uc002svd.3_Missense_Mutation_p.R456W|GPAT2_uc002svg.3_Missense_Mutation_p.R516W|GPAT2_uc010yuh.2_Missense_Mutation_p.R566W|GPAT2_uc002svh.3_Intron	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	637					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CAGGCTGGCCGGGAGCCTGGG	0.582000														36			11		0	0	0.002450	0	0
P2RX5	5026	broad.mit.edu	37	17	3593961	3593961	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:3593961G>A	uc002fwi.3	-	3	773	c.374C>T	c.(373-375)cCt>cTt	p.P125L	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.P65L|P2RX5_uc002fwk.3_Missense_Mutation_p.P125L|P2RX5_uc002fwj.3_Missense_Mutation_p.P101L|P2RX5_uc002fwl.3_Missense_Mutation_p.P101L|P2RX5_uc002fwm.2_Missense_Mutation_p.P125L	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	125					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CGCGCCATCAGGAATGCCTTC	0.632000														41			8		0	0	0.004482	0	0
C19orf21	126353	broad.mit.edu	37	19	763512	763512	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:763512C>T	uc002lpo.3	+	4	2045	c.1962C>T	c.(1960-1962)gcC>gcT	p.A654A		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	654										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)		TCCTGGAAGCCATACGGGTGA	0.592000														20			3		0	0	0.004672	0	0
MECOM	2122	broad.mit.edu	37	3	168834004	168834004	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:168834004C>T	uc011bpj.1	-	7	2059	c.1656G>A	c.(1654-1656)ggG>ggA	p.G552G	MECOM_uc010hwk.1_Silent_p.G387G|MECOM_uc003ffj.3_Silent_p.G429G|MECOM_uc003ffi.3_Silent_p.G364G|MECOM_uc011bpi.1_Silent_p.G365G|MECOM_uc003ffn.3_Silent_p.G364G|MECOM_uc003ffk.2_Silent_p.G364G|MECOM_uc003ffl.2_Silent_p.G524G|MECOM_uc011bpk.1_Silent_p.G364G|MECOM_uc010hwn.2_Silent_p.G552G	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCTTATTGTCCCCTACAGATG	0.473000														37			7		0	0	0.001984	0	0
DLX6	1750	broad.mit.edu	37	7	96637108	96637108	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:96637108G>A	uc022ahu.1	+	1	595	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	81					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					AGAGAGAGCCGAACTGGCAGC	0.527000														8			5		0	0	0.000602	0	0
CACNA1S	779	broad.mit.edu	37	1	201047233	201047233	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:201047233C>T	uc001gvv.3	-	11	1621	c.1394_splice	c.e11-1	p.D465_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	465					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCAATGTCTGTAGGGTTG	0.597000														47			9		0	0	0.006214	0	0
CCDC71	64925	broad.mit.edu	37	3	49200967	49200967	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:49200967G>A	uc003cwg.4	-	1	813	c.675C>T	c.(673-675)ccC>ccT	p.P225P	CCDC71_uc021wxs.1_Silent_p.P225P	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	225										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGGGAGCTTTGGGCCGAGGGT	0.597000														70			21		0	0	0.002780	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74622103	74622103	+	Missense_Mutation	SNP	C	T	T	rs151127625		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:74622103C>T	uc002jsh.3	-	6	1664	c.1490G>A	c.(1489-1491)cGa>cAa	p.R497Q	ST6GALNAC1_uc002jsi.3_Missense_Mutation_p.R365Q|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	497					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	p.R497R(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CTTCATGTATCGGAGAAAGTC	0.542000														111			27		0	0	0.008361	0	0
UGT2B15	7366	broad.mit.edu	37	4	69535624	69535624	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69535624C>T	uc021xow.1	-	0	871	c.713G>A	c.(712-714)aGt>aAt	p.S238N		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	238					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TAGAACTTCACTATAAAACTG	0.308000														110			25		0	0	0.001786	0	0
RNF123	63891	broad.mit.edu	37	3	49742550	49742550	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:49742550C>T	uc003cxh.3	+	22	2179	c.2093C>T	c.(2092-2094)cCt>cTt	p.P698L	RNF123_uc010hky.1_Missense_Mutation_p.P360L|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	698						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCACGGCGGCCTCTGAGCACC	0.667000														7			4		0	0	0.000602	0	0
DFFA	1676	broad.mit.edu	37	1	10523174	10523174	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:10523174G>A	uc001arj.3	-	4	822	c.724C>T	c.(724-726)Ctt>Ttt	p.L242F	DFFA_uc001ark.3_Missense_Mutation_p.L242F	NM_004401	NP_004392	O00273	DFFA_HUMAN	Homo sapiens DNA fragmentation factor, 45kDa, alpha polypeptide (DFFA), transcript variant 1, mRNA.	242					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-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;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGTGCAGTAAGGATGTGGCTC	0.562000														39			8		0	0	0.008291	0	0
GPR157	80045	broad.mit.edu	37	1	9164555	9164555	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:9164555G>A	uc001apq.1	-	3	1074	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	GPR157_uc010oad.1_Missense_Mutation_p.P246S	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGCCTTGGGAGTGCCAGCC	0.597000														32			5		0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179414910	179414910	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179414910C>T	uc021vsy.1	-	285	84176	c.83951G>A	c.(83950-83952)gGa>gAa	p.G27984E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21679E|TTN_uc021vta.1_Missense_Mutation_p.G21612E|TTN_uc021vtb.1_Missense_Mutation_p.G21487E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28911	Fibronectin type-III 103.						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)			CACTGGTCTTCCTTGTACCAA	0.408000														95			69		0	0	0.003610	0	0
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:22940373T>C	uc021urt.1	-	3	2493	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343000														28			3		0	0	0.004672	0	0
FAM5B	57795	broad.mit.edu	37	1	177249716	177249716	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:177249716C>T	uc001glf.3	+	7	1716	c.1404C>T	c.(1402-1404)caC>caT	p.H468H	FAM5B_uc001glg.3_Silent_p.H363H	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	468						extracellular region		p.A467A(1)		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						CGTGTGCCCACTGTGCTCCAG	0.642000														22			4		0	0	0.000248	0	0
GALK1	2584	broad.mit.edu	37	17	73758813	73758813	+	Silent	SNP	G	A	A	rs146095595		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:73758813G>A	uc002jpk.3	-	4	828	c.765C>T	c.(763-765)ctC>ctT	p.L255L	GALK1_uc010wsj.1_3'UTR	NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	255					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTACCTCCCGGAGGCTTTCCT	0.637000														48			9		0	0	0.008291	0	0
BEST3	144453	broad.mit.edu	37	12	70049525	70049525	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:70049525G>A	uc001svg.3	-	9	1396	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.S177F|BEST3_uc010stm.2_Missense_Mutation_p.S284F	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	390						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCTTATCATGGAATGCCGATG	0.537000														93			23		0	0	0.006320	0	0
PAH	5053	broad.mit.edu	37	12	103245469	103245469	+	Missense_Mutation	SNP	G	A	A	rs62642920		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:103245469G>A	uc001tjq.1	-	7	1381	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	303			S -> P (in PKU; haplotype 5).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CCTTACCTGGGAAAACTGGGC	0.493000														32			8		0	0	0.006214	0	0
DENND2A	27147	broad.mit.edu	37	7	140273659	140273659	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:140273659G>A	uc010lnk.3	-	5	1915	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Silent_p.F465F|DENND2A_uc003vvw.3_Silent_p.F465F|DENND2A_uc003vvx.3_Silent_p.F465F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	465										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAGGTTAAAGAAAATGTCAT	0.517000														196			37		0	0	0.004878	0	0
ZBTB4	57659	broad.mit.edu	37	17	7369559	7369559	+	Missense_Mutation	SNP	G	A	A	rs17854296		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:7369559G>A	uc002ghc.4	-	2	812	c.562C>T	c.(562-564)Cct>Tct	p.P188S	ZBTB4_uc002ghd.4_Missense_Mutation_p.P188S	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	188				P -> S (in Ref. 6; AAH43352).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GCTGGGGTAGGAGGTACCCAG	0.692000														28			9		0	0	0.004482	0	0
PENK	5179	broad.mit.edu	37	8	57354176	57354177	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:57354176_57354177GG>AA	uc003xsz.2	-	1	539_540	c.458_459CC>TT	c.(457-459)tcc>tTT	p.S153F	PENK_uc003xta.3_Missense_Mutation_p.S153F	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	153					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.S153C(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCAGGTCTGAGGAATTGGCCAG	0.530000														86			30		0	0	0.004672	0	0
IFNA5	3442	broad.mit.edu	37	9	21305033	21305033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:21305033G>A	uc011lnh.2	-	0	280	c.223C>T	c.(223-225)Caa>Taa	p.Q75*		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), 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			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGATGGCTTGAGCCTTCTGG	0.473000														72			33		0	0	0.003271	0	0
CLVS1	157807	broad.mit.edu	37	8	62289186	62289186	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:62289186C>T	uc003xuh.3	+	2	802	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CLVS1_uc003xug.2_Silent_p.F158F|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	160	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.R160R(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGACATCCTTCGTGCCATCCT	0.458000														78			18		0	0	0.007413	0	0
ACSS3	79611	broad.mit.edu	37	12	81533033	81533033	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:81533033C>T	uc001szl.1	+	3	860	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	ACSS3_uc001szm.1_Missense_Mutation_p.R256C	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	257						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATTTATAATCGTCCAAATAT	0.328000														29			5		0	0	0.001168	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660915	50660915	+	Missense_Mutation	SNP	G	A	A	rs141188316		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:50660915G>A	uc003bkb.1	-	13	2889	c.2377C>T	c.(2377-2379)Cgt>Tgt	p.R793C	TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.R785C|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	793					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAGAGAAAACGAAGCCGTGCA	0.562000														33			22		0	0	0.001882	0	0
ZNF331	55422	broad.mit.edu	37	19	54080689	54080689	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:54080689T>A	uc002qbx.1	+	6	2309	c.875T>A	c.(874-876)aTt>aAt	p.I292N	ZNF331_uc002qby.1_Missense_Mutation_p.I292N|ZNF331_uc002qbz.1_Missense_Mutation_p.I292N|ZNF331_uc010eqr.1_Missense_Mutation_p.I292N|ZNF331_uc002qca.1_Missense_Mutation_p.I292N|ZNF331_uc021uzg.1_Missense_Mutation_p.I292N|ZNF331_uc021uzh.1_Missense_Mutation_p.I292N|ZNF331_uc002qcb.1_Missense_Mutation_p.I292N|ZNF331_uc002qcc.1_Missense_Mutation_p.I292N|ZNF331_uc002qcd.1_Missense_Mutation_p.I292N	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CATAAAAGAATTCACACAGGT	0.433000			T	?	follicular thyroid adenoma									26			11		0	0	0.008291	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621917	39621917	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:39621917A>T	uc001uxc.3	+	6	1220	c.898A>T	c.(898-900)Agc>Tgc	p.S300C	NHLRC3_uc001uxd.3_Missense_Mutation_p.S233C|NHLRC3_uc001uxe.3_Missense_Mutation_p.S103C	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	300						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TTCTGTGATCAGCACAATCCA	0.483000														33			7		0	0	0.001984	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:20344609C>T	uc001vwh.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000														197			20		0	0	0.002780	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433498	69433498	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69433498C>T	uc021xov.1	-	0	748	c.705G>A	c.(703-705)caG>caA	p.Q235Q		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	235					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						CACTATAAAACTGGTCCCACT	0.318000														126			27		0	0	0.008361	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24345739	24345739	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:24345739C>T	uc010edb.1	-	0		c.511G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TTGGAACAGTCTTTGTCGTTG	0.453000														181			44		0	0	0.003610	0	0
GATC	283459	broad.mit.edu	37	12	120884561	120884561	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:120884561C>T	uc010szi.2	+	1	226	c.183C>T	c.(181-183)atC>atT	p.I61I	TRIAP1_uc001tyg.3_5'Flank|GATC_uc021rev.1_Non-coding_Transcript	NM_176818	NP_789788	O43716	GATCL_HUMAN	Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.	61					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGAAAGCTATCGCCTTCGCCG	0.667000														34			11		0	0	0.000978	0	0
THEMIS	387357	broad.mit.edu	37	6	128222009	128222009	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:128222009G>A	uc011ebt.2	-	0	218	c.69C>T	c.(67-69)atC>atT	p.I23I	THEMIS_uc021zfa.1_Silent_p.I23I|THEMIS_uc010kfb.3_Intron	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	23	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGCCTGCCTGGATTTCTAGAA	0.448000														64			17		0	0	0.008871	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586958	15586959	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:15586958_15586959CC>TT	uc002nbg.3	-	1	655_656	c.522_523GG>AA	c.(520-525)agggat>agAAat	p.D175N	PGLYRP2_uc002nbf.4_Missense_Mutation_p.D175N	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	175					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGAGCCATCCCTGAGTCCTG	0.545000														81			18		0	0	0.004672	0	0
CSF2RA	1438	broad.mit.edu	37	X	1401651	1401651	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:1401651C>T	uc010nct.2	+	3	377	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.L19F|CSF2RA_uc004cpq.2_Missense_Mutation_p.L19F|CSF2RA_uc004cpn.2_Missense_Mutation_p.L19F|CSF2RA_uc004cpo.2_Missense_Mutation_p.L19F|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.L19F|CSF2RA_uc010ncv.2_Missense_Mutation_p.L19F|CSF2RA_uc004cpr.2_Missense_Mutation_p.L19F	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	19						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCAGCATTCCTCCTGATCCC	0.522000														166			54		0	0	0.003610	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	A	A	rs141478890		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:15791299G>A	uc002nbl.3	+	4	614	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T165T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000														28			8		0	0	0.004482	0	0
CCNB2	9133	broad.mit.edu	37	15	59408902	59408902	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:59408902C>T	uc002afz.3	+	5	795	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_004701	NP_004692	O95067	CCNB2_HUMAN	Homo sapiens cyclin B2 (CCNB2), mRNA.	204					G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						CAGCCAGTTTCCCGGAAGAAG	0.408000														36			8		0	0	0.006214	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72200434	72200434	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72200434G>A	uc001xms.3	+	18	5337	c.4976G>A	c.(4975-4977)aGg>aAg	p.R1659K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1638K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1638K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1659K|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R1113K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1659					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAGACCCGCAGGCAGCCTATG	0.597000														44			12		0	0	0.002450	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395846	47395846	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:47395846C>T	uc001cqp.4	-	11	1552	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	501			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		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)	AGGTGGATTCCATTTTTGGAT	0.587000														44			8		0	0	0.003080	0	0
FAM5C	339479	broad.mit.edu	37	1	190067595	190067595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:190067595C>T	uc001gse.1	-	7	2086	c.1854G>A	c.(1852-1854)tgG>tgA	p.W618*	FAM5C_uc010pot.1_Nonsense_Mutation_p.W516*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	618						extracellular region		p.W618C(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAAATGTCTTCCATTTGTTCC	0.433000														178			42		0	0	0.003610	0	0
C12orf50	160419	broad.mit.edu	37	12	88376890	88376890	+	Silent	SNP	C	T	T	rs148724422		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:88376890C>T	uc001tam.1	-	11	1377	c.1209G>A	c.(1207-1209)aaG>aaA	p.K403K		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	403										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGGATATATCTTTTCACTTT	0.299000														42			10		0	0	0.006214	0	0
ZC3H4	23211	broad.mit.edu	37	19	47569967	47569967	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:47569967C>T	uc002pga.4	-	14	3596	c.3558G>A	c.(3556-3558)aaG>aaA	p.K1186K	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1186							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACGGGGGCTCCTTAGCCTTGG	0.657000														15			3		0	0	0.004672	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293101	49293101	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:49293101G>A	uc001zxe.2	-	14	2485	c.2221C>T	c.(2221-2223)Cca>Tca	p.P741S	SECISBP2L_uc001zxd.2_Missense_Mutation_p.P696S|SECISBP2L_uc010bep.2_Missense_Mutation_p.P503S	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	741										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TCACAGTTTGGAGAAATTATA	0.358000														41			6		0	0	0.001984	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65209767	65209767	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:65209767C>T	uc001xhp.2	+	16	3408	c.3369C>T	c.(3367-3369)ccC>ccT	p.P1123P	PLEKHG3_uc001xhn.1_Silent_p.P946P|PLEKHG3_uc001xho.1_Silent_p.P1002P|PLEKHG3_uc010aqh.1_Silent_p.P544P|PLEKHG3_uc001xhq.1_Silent_p.P507P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1002					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACAGCCCTCCCAAGCCCTCCT	0.617000														89			32		0	0	0.001786	0	0
UNC5B	219699	broad.mit.edu	37	10	73058914	73058914	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:73058914C>T	uc001jro.3	+	16	3169	c.2718C>T	c.(2716-2718)atC>atT	p.I906I	UNC5B_uc001jrp.3_Silent_p.I895I	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	906	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CGGGTGTGATCCTGGACCTCT	0.612000														123			46		0	0	0.003610	0	0
C2orf55	343990	broad.mit.edu	37	2	99448866	99448866	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:99448866C>T	uc002szf.1	-	4	779	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	162										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGGGGCTCCTGGGCAGCCC	0.622000														56			17		0	0	0.004007	0	0
POM121C	100101267	broad.mit.edu	37	7	75048176	75048176	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:75048176C>T	uc003udk.4	-	15	3752	c.2867_splice	c.e15-1	p.G956_splice		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1198	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCCGCCGATCCTGGAAAGAT	0.572000														18			8		0	0	0.000978	0	0
TRBV2	28620	broad.mit.edu	37	7	142001108	142001108	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:142001108C>T	uc011kro.1	+	1	245	c.200C>T	c.(199-201)tCc>tTc	p.S67F	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTCTGGTTTCCTTTTATAAT	0.398000														19			4		0	0	0.000602	0	0
FMO2	2327	broad.mit.edu	37	1	171162576	171162576	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:171162576C>T	uc001ghk.1	+	2	352	c.235C>T	c.(235-237)Cca>Tca	p.P79S	FMO2_uc010pmd.1_5'UTR	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	79					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGATTTTCCAAACTTCCT	0.353000														28			9		0	0	0.008291	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166324	140166324	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140166324C>T	uc003lhb.2	+	0	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L	PCDHAC2_uc003lha.2_Missense_Mutation_p.S150L|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S150L	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	165	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGAATTCGCGTTTTCCG	0.443000														78			11		0	0	0.000978	0	0
CDH24	64403	broad.mit.edu	37	14	23517499	23517499	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:23517499G>A	uc001wil.3	-	12	2410	c.2150C>T	c.(2149-2151)cCc>cTc	p.P717L	CDH24_uc010akf.3_Missense_Mutation_p.P679L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	717					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		Tcggcgcgcgggagggccggg	0.791000														20			10		0	0	0.006214	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703819	33703819	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:33703819G>A	uc002num.2	-	2	593	c.446C>T	c.(445-447)cCc>cTc	p.P149L	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Missense_Mutation_p.P122L	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	149					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GGGGAACACGGGCTGCAGCAC	0.617000														49			9		0	0	0.004482	0	0
KIF4B	285643	broad.mit.edu	37	5	154396033	154396033	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:154396033G>A	uc010jih.1	+	0	2774	c.2614G>A	c.(2614-2616)Gga>Aga	p.G872R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	872	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATATTTGATTGGAGAGCTGGT	0.468000														28			6		0	0	0.001984	0	0
KRT6C	286887	broad.mit.edu	37	12	52865509	52865509	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:52865509C>T	uc001sal.4	-	2	811	c.763G>A	c.(763-765)Gat>Aat	p.D255N		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	255	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TTGATTTCATCCTCATATCTA	0.428000														67			20		0	0	0.002780	0	0
GCKR	2646	broad.mit.edu	37	2	27722055	27722055	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:27722055G>A	uc002rky.3	+	5	541	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	GCKR_uc010ezd.3_Missense_Mutation_p.G159R|GCKR_uc010ylu.2_Intron	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	159	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGCCTTGCACGGGATTGAGGA	0.522000														47			9		0	0	0.008291	0	0
H3F3C	440093	broad.mit.edu	37	12	31944879	31944879	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:31944879G>A	uc001rkr.3	-	0	297	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	74					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AATCCTGCGCGATCTCCCTCA	0.587000										HNSCC(67;0.2)				37			8		0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38926851	38926851	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:38926851C>T	uc021wvy.1	-	16	3191	c.2992G>A	c.(2992-2994)Gat>Aat	p.D998N	SCN11A_uc010hhn.1_Missense_Mutation_p.D76N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	998					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCCTGAAGATCAATGGTGCTA	0.433000														25			12		0	0	0.002450	0	0
ATP2A3	489	broad.mit.edu	37	17	3839604	3839605	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:3839604_3839605GG>AA	uc002fwy.2	-	15	2653_2654	c.2480_2481CC>TT	c.(2479-2481)gcc>gTT	p.A827V	ATP2A3_uc002fwz.2_Missense_Mutation_p.A827V|ATP2A3_uc002fxa.2_Missense_Mutation_p.A827V|ATP2A3_uc002fxb.2_Missense_Mutation_p.A827V|ATP2A3_uc002fxc.2_Missense_Mutation_p.A827V|ATP2A3_uc002fxd.2_Missense_Mutation_p.A827V|ATP2A3_uc002fwx.2_Missense_Mutation_p.A827V	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	827					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CACTGATGAGGGCTTCTCGGGG	0.604000														58			13		0	0	0.004672	0	0
C16orf7	9605	broad.mit.edu	37	16	89776226	89776226	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:89776226G>A	uc002fom.1	-	10	1472	c.1347C>T	c.(1345-1347)ccC>ccT	p.P449P	C16orf7_uc002fol.1_Silent_p.P379P|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	449					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGGAGAAAAAGGGTTCCTCAA	0.607000														93			15		0	0	0.004990	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140207899	140207899	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140207899C>T	uc003lho.2	+	0	250	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	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_Silent_p.L75L|PCDHAC2_uc011dab.2_Silent_p.L75L	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	90	Cadherin 1.				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)			CGAGGACCTTCTGGAGGTAAA	0.637000														128			37		0	0	0.006999	0	0
ZNF226	7769	broad.mit.edu	37	19	44681407	44681407	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:44681407C>T	uc002oys.3	+	5	2172	c.1992C>T	c.(1990-1992)gtC>gtT	p.V664V	ZNF226_uc002oyp.3_Silent_p.V664V|ZNF226_uc002oyq.3_Silent_p.V547V|ZNF226_uc002oyr.3_Silent_p.V547V|ZNF226_uc002oyt.3_Silent_p.V664V	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				ATCAAAAAGTCCACACTGGAG	0.473000														41			18		0	0	0.006122	0	0
MCTP2	55784	broad.mit.edu	37	15	95001366	95001366	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:95001366G>A	uc002btj.3	+	19	2316	c.2251_splice	c.e19-1	p.E751_splice	MCTP2_uc010boj.3_Splice_Site_p.E480_splice|MCTP2_uc010bok.3_Splice_Site_p.E696_splice|MCTP2_uc002btl.3_Splice_Site_p.E339_splice	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	751					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGTTTTCTAGGAATCTGAGAA	0.299000														41			4		0	0	0.000602	0	0
NLRP13	126204	broad.mit.edu	37	19	56423937	56423937	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:56423937C>T	uc010ygg.2	-	4	1271	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	416	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AAGAGAGTTTCGTTTTTTCTT	0.463000														42			12		0	0	0.000978	0	0
HIP1	3092	broad.mit.edu	37	7	75174462	75174462	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:75174462A>G	uc003uds.2	-	25	2629	c.2584T>C	c.(2584-2586)Tat>Cat	p.Y862H	HIP1_uc011kfz.2_Missense_Mutation_p.Y811H	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	862	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCTTGGCATAAAACTCTTTA	0.428000			T	PDGFRB	CMML									126			32		0	0	0.002096	0	0
OR10G2	26534	broad.mit.edu	37	14	22102464	22102464	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:22102464C>T	uc010tmc.2	-	0	535	c.535G>A	c.(535-537)Gtg>Atg	p.V179M		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGTAATCCACCTGATTGGGC	0.562000														80			17		0	0	0.008871	0	0
HERC5	51191	broad.mit.edu	37	4	89378622	89378622	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:89378622C>T	uc003hrt.3	+	0	355	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	68					ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGTCTTGGAACGCGGCGGGGC	0.751000														6			5		0	0	0.001168	0	0
ALPL	249	broad.mit.edu	37	1	21887134	21887134	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:21887134C>T	uc001bet.3	+	2	334	c.77C>T	c.(76-78)cCc>cTc	p.P26L	ALPL_uc010odo.2_5'UTR|ALPL_uc010odp.2_5'UTR|ALPL_uc010odn.2_5'UTR|ALPL_uc001beu.4_Missense_Mutation_p.P26L	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	26					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GAGAAAGACCCCAAGTACTGG	0.502000														57			12		0	0	0.001368	0	0
AKAP6	9472	broad.mit.edu	37	14	33201765	33201765	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:33201765G>A	uc001wrq.3	+	9	3276	c.3106G>A	c.(3106-3108)Gaa>Aaa	p.E1036K	AKAP6_uc010aml.3_Missense_Mutation_p.E1033K	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1036					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGATCTCCTTGAAAAAGTGGA	0.373000														71			18		0	0	0.006122	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135829724	135829724	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:135829724C>T	uc004fab.3	-	2	739	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	ARHGEF6_uc011mwd.2_5'UTR|ARHGEF6_uc011mwe.2_5'UTR	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	93	CH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AAATTGACCCCTGAATAAAGG	0.378000														27			12		0	0	0.001855	0	0
C12orf12	196477	broad.mit.edu	37	12	91347806	91347806	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:91347806G>A	uc001tbj.3	-	0	1148	c.714C>T	c.(712-714)ggC>ggT	p.G238G		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	238								p.G238G(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CCTTGCTGCCGCCAGGGGGCG	0.622000														138			46		0	0	0.003610	0	0
C6	729	broad.mit.edu	37	5	41181562	41181562	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:41181562C>T	uc003jmk.2	-	6	1036	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	C6_uc003jml.1_Missense_Mutation_p.G276R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	276	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.G275G(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGAGCTCCCCCCCTGACTT	0.378000														47			9		0	0	0.000978	0	0
abParts	0	broad.mit.edu	37	22	23081587	23081587	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:23081587C>T	uc021wml.1	+	236		c.11582_splice	c.e236+1		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		GGCTCCAAGTCAGGAACACAG	0.527000														21			4		0	0	0.000602	0	0
COL16A1	1307	broad.mit.edu	37	1	32151372	32151372	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:32151372C>T	uc001btk.1	-	29	2250	c.1885_splice	c.e29-1	p.G629_splice	COL16A1_uc001btj.1_Splice_Site_p.G458_splice|COL16A1_uc001btl.4_Splice_Site_p.G629_splice	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	629	Triple-helical region 7 (COL7) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGGCTCCCCCTGCCAAGCAA	0.622000														94			18		0	0	0.001523	0	0
ZNF320	162967	broad.mit.edu	37	19	53367268	53367268	+	RNA	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:53367268G>A	uc010eqi.1	-	5		c.605C>T						A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCATGTCTGGAGGAACATTT	0.478000														26			4		0	0	0.000602	0	0
ADAM19	8728	broad.mit.edu	37	5	156940501	156940501	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:156940501G>A	uc003lwz.3	-	7	758	c.679C>T	c.(679-681)Cga>Tga	p.R227*	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Nonsense_Mutation_p.R158*	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	227	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTCTCGTCGATTCTTCTGA	0.488000														63			8		0	0	0.004482	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183106	167183106	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:167183106G>A	uc003fes.1	-	4	855	c.784C>T	c.(784-786)Ctt>Ttt	p.L262F	SERPINI2_uc003fer.1_Missense_Mutation_p.L252F|SERPINI2_uc003fet.1_Missense_Mutation_p.L252F	NM_006217	NP_006208	O75830	SPI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (pancpin), member 2 (SERPINI2), mRNA.	252					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						TCTGCAGGAAGTATGATAATT	0.328000														98			10		0	0	0.003163	0	0
GRIA2	2891	broad.mit.edu	37	4	158224858	158224858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:158224858G>A	uc003ipm.4	+	2	843	c.384G>A	c.(382-384)atG>atA	p.M128I	GRIA2_uc011cit.2_Missense_Mutation_p.M81I|GRIA2_uc021xtr.1_Missense_Mutation_p.M128I|GRIA2_uc003ipl.4_Missense_Mutation_p.M128I|GRIA2_uc003ipk.4_Missense_Mutation_p.M81I|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	128					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCATTCAGATGAGACCCGACC	0.448000														110			38		0	0	0.008740	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36269472	36269473	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:36269472_36269473CC>TT	uc002obs.2	+	4	521_522	c.377_378CC>TT	c.(376-378)ccc>cTT	p.P126L	ARHGAP33_uc002obr.2_Missense_Mutation_p.P126L|ARHGAP33_uc002obt.2_5'UTR|ARHGAP33_uc010eek.2_Missense_Mutation_p.P144L	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	126	PX; atypical.|Poly-Pro.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCGGAGCTTCCCCCGCCCCCCG	0.604000														38			13		0	0	0.004672	0	0
FBN3	84467	broad.mit.edu	37	19	8159390	8159390	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:8159390C>T	uc002mjf.3	-	45	5862	c.5845G>A	c.(5845-5847)Gag>Aag	p.E1949K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1949	EGF-like 31; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGGAGCCCTCGAGGTTCTGG	0.602000														21			5		0	0	0.001984	0	0
C5orf42	65250	broad.mit.edu	37	5	37198860	37198860	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:37198860G>A	uc011cpa.1	-	19	3847	c.3616C>T	c.(3616-3618)Cct>Tct	p.P1206S	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P281S|C5orf42_uc011cpb.1_Missense_Mutation_p.P87S	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1206								p.L1206F(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGTGCTACAGGAAAAGAACAC	0.403000														49			7		0	0	0.004482	0	0
FGB	2244	broad.mit.edu	37	4	155490686	155490686	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:155490686G>A	uc003ioa.4	+	6	1018	c.979G>A	c.(979-981)Gat>Aat	p.D327N	FGB_uc010ipv.3_Missense_Mutation_p.D268N	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	327	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCTTGGAAATGATAAAATTAG	0.358000														56			15		0	0	0.003163	0	0
FABP2	2169	broad.mit.edu	37	4	120241838	120241838	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:120241838C>T	uc003icw.3	-	1	286	c.227G>A	c.(226-228)gGa>gAa	p.G76E		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	76							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						GAGTTCAGTTCCGTCTGCTAG	0.318000														41			8		0	0	0.004482	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					47			16		0	0	0.007413	0	0
RIBC2	26150	broad.mit.edu	37	22	45818182	45818182	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:45818182C>T	uc011aqs.2	+	4	760	c.551C>T	c.(550-552)aCa>aTa	p.T184I		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	117										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCCTCTACACAGAGACAAGG	0.547000														140			60		0	0	0.003610	0	0
POTEC	388468	broad.mit.edu	37	18	14542741	14542741	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:14542741G>A	uc010dln.3	-	0	859	c.405C>T	c.(403-405)gtC>gtT	p.V135V	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	135										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTTCTCGACGGACGTGGTACC	0.602000														57			26		0	0	0.003330	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404346	34404346	+	RNA	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:34404346G>A	uc002edv.1	-	0		c.417C>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		ACCTTGGGGGGATCATGCGGG	0.507000														33			6		0	0	0.001168	0	0
TCRB	0	broad.mit.edu	37	7	142119895	142119895	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:142119895C>T	uc022anf.1	-	1	316	c.287G>A	c.(286-288)gGa>gAa	p.G96E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAGATGGATCCCTCAGGCCT	0.562000														68			12		0	0	0.001368	0	0
PLOD1	5351	broad.mit.edu	37	1	12010498	12010498	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:12010498G>A	uc010obb.2	+	4	641	c.528G>A	c.(526-528)gaG>gaA	p.E176E	PLOD1_uc001atm.3_Silent_p.E129E	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	129					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCTGCTGAGGAGCTCATCT	0.632000														47			9		0	0	0.004482	0	0
SCN10A	6336	broad.mit.edu	37	3	38753670	38753670	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:38753670G>A	uc003ciq.3	-	21	4071	c.4071C>T	c.(4069-4071)taC>taT	p.Y1357Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1357					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAAGTGCAAGGTAACCCATTG	0.433000														54			19		0	0	0.001882	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655683	46655683	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:46655683G>A	uc003bhh.3	-	0	3537	c.3537C>T	c.(3535-3537)agC>agT	p.S1179S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1179					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTTGGTGAAGGCTCTTGATGA	0.473000														100			46		0	0	0.003610	0	0
POU6F1	5463	broad.mit.edu	37	12	51584083	51584083	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:51584083G>A	uc001rxy.3	-	4	1045	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	POU6F1_uc001rxz.3_Missense_Mutation_p.R285W|POU6F1_uc001rya.3_Missense_Mutation_p.R285W	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	285					brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R285Q(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GTCTGGCGCCGATTGCAGAAC	0.542000														41			9		0	0	0.004482	0	0
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:86088162G>A	uc021rxf.1	+	0	304	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FLRT2_uc001xvr.3_Missense_Mutation_p.E102K|FLRT2_uc010atd.3_Missense_Mutation_p.E102K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	102					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.E102K(2)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468000														64			15		0	0	0.003163	0	0
TRIM69	140691	broad.mit.edu	37	15	45059759	45059759	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:45059759C>T	uc001zuf.2	+	7	2187	c.1292C>T	c.(1291-1293)tCt>tTt	p.S431F	TRIM69_uc001zug.1_Missense_Mutation_p.S431F|TRIM69_uc001zuh.1_Missense_Mutation_p.S272F|TRIM69_uc001zui.1_Missense_Mutation_p.S227F|TRIM69_uc010bdy.1_Missense_Mutation_p.S210F	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	431	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding	p.S431F(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATTTGCCTTCTTTCAGTCTG	0.453000														44			15		0	0	0.003163	0	0
GALNT11	63917	broad.mit.edu	37	7	151815816	151815816	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:151815816G>A	uc010lqg.1	+	9	1736	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	GALNT11_uc011kvm.1_Silent_p.Q421Q|GALNT11_uc003wku.2_Silent_p.Q502Q|GALNT11_uc003wkw.1_3'UTR	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	502	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GCCCAAGTCAGAAGGGAGGTC	0.567000														34			4		0	0	0.000602	0	0
SIRPG	55423	broad.mit.edu	37	20	1616113	1616113	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:1616113C>T	uc002wfm.1	-	3	946	c.881G>A	c.(880-882)aGa>aAa	p.R294K	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	294	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCTGTTTCTCTCTGGCACAC	0.532000														122			21		0	0	0.002299	0	0
FAM163A	148753	broad.mit.edu	37	1	179783034	179783034	+	Missense_Mutation	SNP	G	A	A	rs145701153		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:179783034G>A	uc009wxj.3	+	5	673	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FAM163A_uc001gnj.3_Missense_Mutation_p.G72S|FAM163A_uc009wxk.3_Missense_Mutation_p.G72S	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	72						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGCCCTGGACGGCAGAGGCAG	0.687000														32			13		0	0	0.001855	0	0
GPR50	9248	broad.mit.edu	37	X	150348250	150348250	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:150348250C>T	uc010ntg.2	+	1	333	c.195C>T	c.(193-195)atC>atT	p.I65I	GPR50_uc011myc.2_Silent_p.I65I	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	65					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCAACATCTTCGTGGTCA	0.488000														131			71		0	0	0.003610	0	0
GPR26	2849	broad.mit.edu	37	10	125434339	125434339	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:125434339G>A	uc001lhh.3	+	1	727	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	225					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGCAGTGTGCGGGAACGCTGT	0.552000														26			7		0	0	0.001984	0	0
UGT8	7368	broad.mit.edu	37	4	115544202	115544202	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:115544202C>T	uc003ibs.2	+	1	688	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	UGT8_uc003ibt.2_Missense_Mutation_p.L56F|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	56					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGTGTTCCTCCTCTCTGAAGG	0.488000														46			11		0	0	0.000978	0	0
VCAN	1462	broad.mit.edu	37	5	82817888	82817888	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:82817888A>G	uc003kii.3	+	6	4119	c.3763A>G	c.(3763-3765)Aca>Gca	p.T1255A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T1255A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1255	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAGAATCAACATCTCATGT	0.443000														64			12		0	0	0.001368	0	0
OR5K3	403277	broad.mit.edu	37	3	98109620	98109620	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:98109620C>T	uc011bgw.2	+	0	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	37					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						TCTATCTGATCACCATGGTGG	0.403000														86			21		0	0	0.001882	0	0
OR5T2	219464	broad.mit.edu	37	11	55999895	55999895	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:55999895G>A	uc010rjc.2	-	0	767	c.767C>T	c.(766-768)tCc>tTc	p.S256F		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAAACCATAGGAGATCAGAAC	0.438000														56			14		0	0	0.002450	0	0
CASKIN1	57524	broad.mit.edu	37	16	2231002	2231002	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:2231002C>T	uc010bsg.1	-	17	2399	c.2367G>A	c.(2365-2367)caG>caA	p.Q789Q		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	789	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCCCAAGGGCCTGGGGAGAGC	0.711000														22			4		0	0	0.000248	0	0
HMCN1	83872	broad.mit.edu	37	1	185834918	185834919	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:185834918_185834919GG>AA	uc001grq.1	+	3	773_774	c.544_545GG>AA	c.(544-546)gga>AAa	p.G182K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	182	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACCCATATTGGATATAAAGTC	0.337000														33			8		0	0	0.004672	0	0
MYH14	79784	broad.mit.edu	37	19	50721003	50721003	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:50721003G>A	uc010enu.1	+	2	584	c.537G>A	c.(535-537)gaG>gaA	p.E179E	MYH14_uc002prq.1_Silent_p.E179E|MYH14_uc002prr.1_Silent_p.E179E	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	179	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAGTGACCGAGGGGGCCTATC	0.647000														52			22		0	0	0.003954	0	0
NAV3	89795	broad.mit.edu	37	12	78573380	78573380	+	Nonsense_Mutation	SNP	T	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:78573380T>A	uc001syp.3	+	28	5608	c.5435T>A	c.(5434-5436)tTa>tAa	p.L1812*	NAV3_uc001syo.3_Nonsense_Mutation_p.L1790*|NAV3_uc010sub.2_Nonsense_Mutation_p.L1269*|NAV3_uc009zsf.3_Nonsense_Mutation_p.L621*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1812						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.A1812V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAAAGGAATTAAAATTAACG	0.473000										HNSCC(70;0.22)				64			14		0	0	0.003163	0	0
PROM2	150696	broad.mit.edu	37	2	95942371	95942371	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:95942371C>T	uc002suk.3	+	4	781	c.648C>T	c.(646-648)tcC>tcT	p.S216S	PROM2_uc002suh.2_Silent_p.S216S|PROM2_uc002sui.3_Silent_p.S216S|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_Intron	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	216						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGCAATTCTCCCTGCCCCAGG	0.657000														38			9		0	0	0.004482	0	0
C1orf172	126695	broad.mit.edu	37	1	27278613	27278613	+	Missense_Mutation	SNP	G	A	A	rs145915640		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:27278613G>A	uc001bni.2	-	1	352	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	87	Cys-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AAGGCAGCCCGGCACCACTCC	0.662000														23			9		0	0	0.004482	0	0
OSBPL11	114885	broad.mit.edu	37	3	125249392	125249392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:125249392C>T	uc003eic.3	-	12	2948	c.2211G>A	c.(2209-2211)tgG>tgA	p.W737*		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	737					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						GAATTATTTTCCAAAGTGGTT	0.358000														33			11		0	0	0.001855	0	0
RARS	5917	broad.mit.edu	37	5	167919739	167919739	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:167919739C>T	uc003lzx.3	+	2	297	c.256C>T	c.(256-258)Cat>Tat	p.H86Y	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	86					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GGTCTTTGGTCATGCAATTAA	0.408000														70			16		0	0	0.004007	0	0
ADH1B	125	broad.mit.edu	37	4	100237269	100237269	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:100237269C>T	uc003hus.4	-	4	437	c.353G>A	c.(352-354)gGc>gAc	p.G118D	ADH1B_uc003hut.4_Missense_Mutation_p.G78D|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.G78D	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	118					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGAGGATTGCCTAGACTGGG	0.537000														23			8		0	0	0.003080	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459497	107459497	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:107459497C>T	uc002tdq.3	-	1	1056	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ST6GAL2_uc002tdr.3_Missense_Mutation_p.E313K|ST6GAL2_uc002tds.3_Missense_Mutation_p.E313K	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	313					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTACCTATTTCCTCGCCCAAG	0.667000														11			5		0	0	0.001168	0	0
SON	6651	broad.mit.edu	37	21	34926484	34926484	+	Silent	SNP	T	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:34926484T>G	uc002yse.1	+	2	4996	c.4947T>G	c.(4945-4947)ggT>ggG	p.G1649G	SON_uc002ysb.1_Silent_p.G1649G|SON_uc002ysc.3_Silent_p.G1649G|SON_uc002ysd.3_Silent_p.G640G|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.G1295G|SON_uc002ysg.3_Silent_p.G640G	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1649					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTCCTAGTGGTGGTAGTGAAG	0.353000														48			11		0	0	0.000978	0	0
CCKAR	886	broad.mit.edu	37	4	26483701	26483701	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:26483701G>A	uc003gse.1	-	4	999	c.846C>T	c.(844-846)ctC>ctT	p.L282L		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	282					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAGCTGCCGGAGCTCCAGCT	0.607000														54			17		0	0	0.004007	0	0
ACSM1	116285	broad.mit.edu	37	16	20635437	20635437	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:20635437G>A	uc002dhm.1	-	11	1696	c.1628C>T	c.(1627-1629)cCa>cTa	p.P543L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.P543L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	543					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTACTTGTATGGGGCTGTCAC	0.547000														103			38		0	0	0.006999	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038839	17038839	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:17038839C>T	uc002nfb.3	-	24	3523	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1117						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						GGCGGTGGCTCGCTCAGACCC	0.617000														54			19		0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43411845	43411845	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:43411845C>T	uc002ovj.1	-	3	967	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E130K|PSG4_uc002ovg.1_Missense_Mutation_p.E290K	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	291	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCCTGTTTTCAATGGGTCGC	0.493000														167			40		0	0	0.002222	0	0
ADAM2	2515	broad.mit.edu	37	8	39682369	39682369	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:39682369C>T	uc003xnj.3	-	3	311	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ADAM2_uc003xnk.3_Missense_Mutation_p.G79E|ADAM2_uc011lck.2_Missense_Mutation_p.G79E|ADAM2_uc003xnl.3_Missense_Mutation_p.G79E	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	79					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTCATAATTCCTGTGCCACT	0.294000														16			10		0	0	0.008291	0	0
RIMS4	140730	broad.mit.edu	37	20	43385542	43385542	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:43385542G>A	uc010ggu.3	-	4	658	c.591C>T	c.(589-591)ctC>ctT	p.L197L	RIMS4_uc002xms.3_Silent_p.L196L	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	196	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCCTCACCTGGAGGACTTTGC	0.582000														148			36		0	0	0.004289	0	0
GALNT14	79623	broad.mit.edu	37	2	31135094	31135094	+	Nonsense_Mutation	SNP	G	A	A	rs35447902		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:31135094G>A	uc002rns.3	-	14	2150	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	GALNT14_uc002rnq.3_Nonsense_Mutation_p.R479*|GALNT14_uc010ymr.2_Nonsense_Mutation_p.R464*|GALNT14_uc002rnr.3_Nonsense_Mutation_p.R499*	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	499	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTTACCTGTCGGTCATCTCCA	0.532000														80			22		0	0	0.002299	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569342	11569342	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:11569342C>T	uc002mry.1	-	3	798	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ELAVL3_uc002mrx.1_Missense_Mutation_p.E140K	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	140	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCTCCATCTCTTTCTGGCTC	0.617000														82			18		0	0	0.006122	0	0
SOGA2	23255	broad.mit.edu	37	18	8819105	8819105	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:8819105C>T	uc002knr.2	+	12	3146	c.3004C>T	c.(3004-3006)Ccg>Tcg	p.P1002S	SOGA2_uc002knq.2_Missense_Mutation_p.P961S|SOGA2_uc002kns.2_Missense_Mutation_p.P342S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1312																	TGACTCCATCCCGTTTGAAGA	0.597000														22			9		0	0	0.006214	0	0
GPR37	2861	broad.mit.edu	37	7	124386789	124386789	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:124386789G>A	uc003vli.3	-	1	2283	c.1632C>T	c.(1630-1632)gtC>gtT	p.V544V		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	544						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGACTGGGGTGACACAGGACT	0.488000														59			13		0	0	0.001368	0	0
MKI67	4288	broad.mit.edu	37	10	129906764	129906764	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:129906764G>A	uc001lke.3	-	12	3535	c.3340C>T	c.(3340-3342)Ccc>Tcc	p.P1114S	MKI67_uc001lkf.3_Missense_Mutation_p.P754S|MKI67_uc009yav.1_Missense_Mutation_p.P689S|MKI67_uc009yaw.1_Missense_Mutation_p.P264S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1114	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCTCAGAGGGACCTGGTGTC	0.498000														158			50		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106511873	106511873	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:106511873C>T	uc021ser.1	-	2240		c.40048G>A								Parts of antibodies, mostly variable regions.																		AATGGTGAATCGGCCCTTCAC	0.512000														26			9		0	0	0.000978	0	0
DAB2	1601	broad.mit.edu	37	5	39394359	39394359	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:39394359C>T	uc003jlx.3	-	1	595	c.64G>A	c.(64-66)Gca>Aca	p.A22T	DAB2_uc003jlw.3_Missense_Mutation_p.A22T	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	22					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTTGAGGGTGCTTTTGGTGCG	0.483000														48			10		0	0	0.008291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140763909	140763909	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140763909T>G	uc003lka.2	+	0	1443	c.1443T>G	c.(1441-1443)agT>agG	p.S481R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.S481R	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	483	Cadherin 5.				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)			ACCACGACAGTGAGGATAATG	0.537000														24			8		0	0	0.003080	0	0
KIF4B	285643	broad.mit.edu	37	5	154394617	154394617	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:154394617G>A	uc010jih.1	+	0	1358	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	400					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGAGGAGAATGAAAAATTAAG	0.458000														97			20		0	0	0.003330	0	0
HYDIN	54768	broad.mit.edu	37	16	70896038	70896038	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:70896038C>T	uc002ezr.3	-	68	11838	c.11687G>A	c.(11686-11688)gGa>gAa	p.G3896E	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3897								p.G3848E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGGCACGATTCCCGAAGAGGG	0.542000														13			5		0	0	0.000602	0	0
SYTL5	94122	broad.mit.edu	37	X	37969626	37969626	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:37969626G>A	uc004ddx.3	+	12	1909	c.1553G>A	c.(1552-1554)tGg>tAg	p.W518*	SYTL5_uc004ddu.3_Nonsense_Mutation_p.W496*|SYTL5_uc004ddv.3_Nonsense_Mutation_p.W496*	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	496					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CTCTCAGTCTGGCACTATGAT	0.448000														25			12		0	0	0.001368	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756602	54756602	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:54756602C>T	uc010yot.1	+	0	244	c.120C>T	c.(118-120)atC>atT	p.I40I	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		AAAAGAAGATCCGCATGTCAC	0.542000														44			9		0	0	0.006214	0	0
ADCY8	114	broad.mit.edu	37	8	131896878	131896878	+	Missense_Mutation	SNP	C	T	T	rs145360233		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:131896878C>T	uc003ytd.4	-	7	2297	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	ADCY8_uc010mds.3_Missense_Mutation_p.D681N	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	681					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	p.D681N(2)		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)			CTCAATTTATCGCCACTCCGC	0.463000										HNSCC(32;0.087)				77			49		0	0	0.003610	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872897	57872897	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:57872897G>A	uc001sod.3	-	4	699	c.506C>T	c.(505-507)cCc>cTc	p.P169L	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.P98L|ARHGAP9_uc001soc.3_Missense_Mutation_p.P98L|ARHGAP9_uc001soe.1_Missense_Mutation_p.P177L|ARHGAP9_uc010sro.1_Missense_Mutation_p.P98L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	98					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.D169N(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAATTGGCCGGGGATGACGGT	0.557000														79			17		0	0	0.001523	0	0
OR2M5	127059	broad.mit.edu	37	1	248308755	248308755	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248308755C>T	uc010pze.2	+	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	102					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)			CACAAATTTTCTTCTATGTAT	0.458000														252			52		0	0	0.003610	0	0
TACC2	10579	broad.mit.edu	37	10	123844641	123844641	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:123844641C>T	uc001lfv.3	+	3	2986	c.2626C>T	c.(2626-2628)Cat>Tat	p.H876Y	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.H876Y|TACC2_uc010qtv.2_Missense_Mutation_p.H876Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	876						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)				TTCCCAAATCCATGTACCTGT	0.517000														33			12		0	0	0.001368	0	0
CXCL12	6387	broad.mit.edu	37	10	44880421	44880421	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:44880421G>A	uc001jbf.3	-	0	125	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CXCL12_uc001jbh.3_Silent_p.L11L|CXCL12_uc021ppm.1_Silent_p.L11L|CXCL12_uc001jbi.3_Silent_p.L11L	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	11					G-protein coupled receptor protein signaling pathway|blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CGGTCAGCACGAGGACCAGCA	0.776000														10			5		0	0	0.001168	0	0
WWC2	80014	broad.mit.edu	37	4	184174999	184174999	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:184174999T>A	uc010irx.3	+	8	1225	c.1043T>A	c.(1042-1044)aTt>aAt	p.I348N	WWC2_uc003ivk.4_Missense_Mutation_p.I143N|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.I30N	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	348										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGATGCTGATTAATGAAAAA	0.418000														14			5		0	0	0.000602	0	0
GCNT3	9245	broad.mit.edu	37	15	59910848	59910848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:59910848G>A	uc002age.3	+	2	860	c.411G>A	c.(409-411)atG>atA	p.M137I	GCNT3_uc002agd.3_Missense_Mutation_p.M137I|GCNT3_uc021smz.1_Missense_Mutation_p.M137I	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	137					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						CATACTCTATGGTGATTCATG	0.458000														59			11		0	0	0.001855	0	0
SLC39A10	57181	broad.mit.edu	37	2	196571437	196571437	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:196571437C>T	uc002utg.4	+	3	1528	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F	SLC39A10_uc002uth.4_Silent_p.F438F|SLC39A10_uc010zgp.2_5'UTR	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	438					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCTTCAAATTCCTTCTTACAT	0.398000														27			14		0	0	0.004990	0	0
OR7E24	26648	broad.mit.edu	37	19	9362115	9362115	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9362115C>T	uc002mlb.1	+	0	396	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						ATGACATGCTCCTGAGTGTGA	0.478000														36			12		0	0	0.001855	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057818	63057818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:63057818G>A	uc009yor.3	+	0	389	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.G9S	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	61						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TACTGGATCTGGTAATGAAAC	0.458000														76			16		0	0	0.003163	0	0
XPO7	23039	broad.mit.edu	37	8	21844783	21844783	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:21844783C>T	uc003xaa.4	+	13	1811	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	570					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CAGAAATCCTCTAAGGTAACA	0.473000														50			16		0	0	0.006122	0	0
IRX5	10265	broad.mit.edu	37	16	54967405	54967405	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:54967405C>T	uc002ehv.3	+	2	1072	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	IRX5_uc021tin.1_Missense_Mutation_p.P357S|IRX5_uc002ehw.3_Missense_Mutation_p.P292S	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	358					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGAGGGCTCTCCATGCCCACC	0.716000														20			5		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9069117	9069117	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9069117C>T	uc002mkp.3	-	2	18533	c.18329G>A	c.(18328-18330)aGg>aAg	p.R6110K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6112	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						GACTTCTGCCCTGGAGACCTC	0.498000														17			3		0	0	0.004672	0	0
DCN	1634	broad.mit.edu	37	12	91539912	91539912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:91539912G>A	uc001tbt.3	-	7	1257	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	DCN_uc001tbo.3_Nonsense_Mutation_p.Q226*|DCN_uc001tbp.3_Nonsense_Mutation_p.Q188*|DCN_uc001tbq.3_Nonsense_Mutation_p.Q148*|DCN_uc001tbr.3_3'UTR|DCN_uc001tbu.3_Nonsense_Mutation_p.Q335*	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	335					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TCCCAGTACTGGACCGGGTTG	0.458000														32			20		0	0	0.008871	0	0
EPRS	2058	broad.mit.edu	37	1	220162059	220162059	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:220162059G>A	uc001hly.1	-	18	2918	c.2648C>T	c.(2647-2649)tCg>tTg	p.S883L	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.S634L|EPRS_uc001hlz.1_Missense_Mutation_p.S890L	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	883	3 X 57 AA approximate repeats.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GCTTGAATCCGAACTTTGAGA	0.428000														65			26		0	0	0.001786	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169876	90169876	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:90169876G>A	uc003hsm.1	-	1	1905	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	GPRIN3_uc021xqb.1_Silent_p.S462S	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	462										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TAGCTTTCAGGGAGCTAGAAT	0.458000														63			19		0	0	0.006122	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117612	117612	+	RNA	SNP	G	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrGL000205.1:117612G>C	uc002kgk.4	+	0		c.990G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCCTCAATCTGTACTGGGGGA	0.607000														3			3		0	0	0.004672	0	0
SMCR7L	54471	broad.mit.edu	37	22	39909778	39909779	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:39909778_39909779CC>AT	uc003axw.3	+	5	1339_1340	c.842_843CC>AT	c.(841-843)tcc>tAT	p.S281Y	SMCR7L_uc010gxz.1_Missense_Mutation_p.S103Y|SMCR7L_uc003axx.3_Missense_Mutation_p.S281Y|SMCR7L_uc003axy.3_Missense_Mutation_p.S103Y	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7-like (SMCR7L), nuclear gene encoding mitochondrial protein, mRNA.	281						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GCCATAGGGTCCCTCTTGGACT	0.554000											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			7		0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857481	9857481	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:9857481G>A	uc010uym.2	-	13	4230	c.3920C>T	c.(3919-3921)cCc>cTc	p.P1307L	GRIN2A_uc002czo.4_Missense_Mutation_p.P1307L|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1307					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	p.R1306R(1)		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)	GCTCCGGGAGGGCCTGCTAAG	0.483000														89			26		0	0	0.006320	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19428948	19428948	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:19428948C>T	uc010tcj.1	-	0		c.17162G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTCTGTTTTCCTTTTCCATGG	0.393000														50			13		0	0	0.008871	0	0
OR2A5	393046	broad.mit.edu	37	7	143747855	143747855	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143747855G>A	uc011ktw.2	+	0	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATGTCCTACGATCGGTACAT	0.468000														113			69		0	0	0.003610	0	0
BSG	682	broad.mit.edu	37	19	580652	580652	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:580652C>T	uc002loz.3	+	4	760	c.662C>T	c.(661-663)cCc>cTc	p.P221L	BSG_uc002loy.3_Missense_Mutation_p.P41L|BSG_uc021ulx.1_Missense_Mutation_p.P12L|BSG_uc002lpa.3_Missense_Mutation_p.P105L|BSG_uc002lpc.3_Missense_Mutation_p.P268L	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	221	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCAGGGCCTCCCAGAGTGAAG	0.662000														22			7		0	0	0.003080	0	0
IL31RA	133396	broad.mit.edu	37	5	55168166	55168166	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:55168166C>T	uc003jql.3	+	3	533	c.341C>T	c.(340-342)tCt>tTt	p.S114F	IL31RA_uc003jqk.3_Missense_Mutation_p.S114F|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_Missense_Mutation_p.S95F|IL31RA_uc003jqn.3_Missense_Mutation_p.S114F|IL31RA_uc010iwa.1_Missense_Mutation_p.S82F|IL31RA_uc021xyq.1_Missense_Mutation_p.S95F|IL31RA_uc003jqo.3_5'UTR	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	82	Fibronectin type-III 1.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCGTGCTCTTTTTTCCTT	0.348000														34			13		0	0	0.001855	0	0
PDE10A	10846	broad.mit.edu	37	6	165863797	165863797	+	Silent	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:165863797T>C	uc003qun.3	-	4	494	c.249A>G	c.(247-249)gaA>gaG	p.E83E	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.E13E|PDE10A_uc003quo.3_Silent_p.E93E	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	83					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.E83D(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCAACCGTTGTTCTATATAGC	0.328000														33			10		0	0	0.001368	0	0
abParts	0	broad.mit.edu	37	2	90139155	90139155	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:90139155C>T	uc010yts.2	+	29		c.3338C>T								Parts of antibodies, mostly variable regions.																		TGCTCTGTTTCCCAGGTAAGG	0.498000														132			10		0	0	0.000978	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353748	77353748	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:77353748C>T	uc002ffc.4	-	15	2949	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	ADAMTS18_uc010chc.1_Missense_Mutation_p.E432K|ADAMTS18_uc002ffe.1_Missense_Mutation_p.E540K	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	844	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGCTTACTTCAAAGACCAGC	0.507000														43			14		0	0	0.002450	0	0
ASB15	142685	broad.mit.edu	37	7	123267311	123267311	+	Missense_Mutation	SNP	G	A	A	rs142770562	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:123267311G>A	uc003vku.1	+	8	1137	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	ASB15_uc003vkv.1_Missense_Mutation_p.R282Q|ASB15_uc003vkw.1_Missense_Mutation_p.R282Q	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	282					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCTATACACCGAGCTGCCTAT	0.423000														32			4		0	0	0.000602	0	0
IKZF1	10320	broad.mit.edu	37	7	50459541	50459541	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:50459541C>T	uc003tow.4	+	6	985	c.830C>T	c.(829-831)tCt>tTt	p.S277F	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Missense_Mutation_p.S52F|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Missense_Mutation_p.S190F|IKZF1_uc003tox.4_Missense_Mutation_p.S235F|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Missense_Mutation_p.S148F|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Missense_Mutation_p.S94F|IKZF1_uc011kck.2_Missense_Mutation_p.S190F|IKZF1_uc003toy.4_Missense_Mutation_p.S235F|IKZF1_uc003toz.4_Missense_Mutation_p.S247F|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	277					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGTAAGAGCTCTATGCCTCAG	0.413000			"""D,T"""	BCL6	"""ALL, DLBCL"""									15			4		0	0	0.000602	0	0
KRT71	112802	broad.mit.edu	37	12	52941675	52941675	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:52941675C>T	uc001sao.3	-	5	1140	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	357	Coil 2.|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)		TGAGCGGATTCTCTGGATGAG	0.562000														80			22		0	0	0.002299	0	0
ZNF527	84503	broad.mit.edu	37	19	37880104	37880104	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:37880104C>T	uc010efk.1	+	4	1264	c.1153C>T	c.(1153-1155)Cca>Tca	p.P385S	ZNF527_uc002ogf.3_Missense_Mutation_p.P353S|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTGAGAAACCATATGAATG	0.423000														23			5		0	0	0.001168	0	0
CHP2	63928	broad.mit.edu	37	16	23768611	23768611	+	Silent	SNP	G	A	A	rs150633217	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23768611G>A	uc002dmb.1	+	5	927	c.504G>A	c.(502-504)ggG>ggA	p.G168G		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	168	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		ATGAAGATGGGGATGGGGCTG	0.567000														27			4		0	0	0.000248	0	0
ODZ3	55714	broad.mit.edu	37	4	183694733	183694733	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:183694733C>T	uc003ivd.1	+	21	5076	c.5001C>T	c.(4999-5001)agC>agT	p.S1667S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1667					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTCATCTAGCCGAGAAGAAG	0.443000														97			20		0	0	0.001882	0	0
COL6A5	256076	broad.mit.edu	37	3	130188179	130188179	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:130188179C>T	uc010htj.1	+	37	7825	c.7331C>T	c.(7330-7332)tCc>tTc	p.S2444F	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S483F|COL6A5_uc010htk.1_Missense_Mutation_p.S483F	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2444	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTGTTTTCCTTTGGCCCT	0.443000														22			8		0	0	0.004482	0	0
GDA	9615	broad.mit.edu	37	9	74828889	74828889	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:74828889C>T	uc004air.3	+	4	769	c.560C>T	c.(559-561)tCg>tTg	p.S187L	GDA_uc011lse.2_Missense_Mutation_p.S113L|GDA_uc004aiq.3_Missense_Mutation_p.S187L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.S113L|GDA_uc004ais.3_Missense_Mutation_p.S145L|GDA_uc004ait.1_Missense_Mutation_p.S113L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	187					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E186K(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		ACTGAGGAATCGATCAAGGAA	0.413000														10			3		0	0	0.004672	0	0
FCRL1	115350	broad.mit.edu	37	1	157765931	157765931	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:157765931C>T	uc001frg.3	-	10	1361	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.R415R|FCRL1_uc001fri.3_3'UTR|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	416						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTTTGCTTTCCTCAGCCTGG	0.468000														37			11		0	0	0.001368	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282105	71282105	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:71282105G>A	uc002jjn.3	-	1	682	c.535C>T	c.(535-537)Ctc>Ttc	p.L179F	CDC42EP4_uc002jjo.3_Missense_Mutation_p.L179F|CDC42EP4_uc002jjp.1_Missense_Mutation_p.L109F|CDC42EP4_uc021ucn.1_Missense_Mutation_p.L179F	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	179					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGCTCATCGAGGAGGGGGTCA	0.652000														42			11		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196786915	196786915	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:196786915G>A	uc002utj.4	-	23	3933	c.3832C>T	c.(3832-3834)Cat>Tat	p.H1278Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1278	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTTTCTAAATGATTTTCCTAG	0.289000														22			8		0	0	0.006214	0	0
EIF5	1983	broad.mit.edu	37	14	103802236	103802236	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:103802236C>T	uc001ymt.3	+	1	534	c.39C>T	c.(37-39)ttC>ttT	p.F13F	EIF5_uc001ymq.3_Silent_p.F13F|EIF5_uc001ymr.3_Silent_p.F13F|EIF5_uc001ymu.3_Silent_p.F13F|SNORA28_uc001ymv.1_5'Flank	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	13					RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CAGACCAGTTCTATCGCTACA	0.378000														76			21		0	0	0.004656	0	0
MET	4233	broad.mit.edu	37	7	116339236	116339236	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:116339236C>T	uc003vij.3	+	1	285	c.98C>T	c.(97-99)tCc>tTc	p.S33F	MET_uc022akk.1_Missense_Mutation_p.S33F|MET_uc010lkh.3_Missense_Mutation_p.S33F|MET_uc011knc.1_Missense_Mutation_p.S33F|MET_uc011knd.2_Missense_Mutation_p.S33F|MET_uc011knf.2_Missense_Mutation_p.S33F|MET_uc011kne.2_Missense_Mutation_p.S33F|MET_uc011kng.1_Missense_Mutation_p.S33F|MET_uc011knh.1_Missense_Mutation_p.S33F|MET_uc011kni.2_Missense_Mutation_p.S33F|MET_uc003vii.1_Missense_Mutation_p.S52F|MET_uc010lkg.3_Missense_Mutation_p.S33F|MET_uc011kmz.1_Missense_Mutation_p.S33F|MET_uc011kna.1_Missense_Mutation_p.S33F|MET_uc011knb.1_Missense_Mutation_p.S33F	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	33	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTAGCAAAGTCCGAGATGAAT	0.498000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					67			10		0	0	0.006214	0	0
CHD7	55636	broad.mit.edu	37	8	61735191	61735191	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:61735191C>T	uc003xue.3	+	11	3579	c.3087C>T	c.(3085-3087)ccC>ccT	p.P1029P	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Silent_p.P142P	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1029	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCACAATCCCCAACTGGGAAA	0.423000														174			28		0	0	0.002836	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350631	89350632	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:89350631_89350632GG>AA	uc002fmx.1	-	8	2779_2780	c.2318_2319CC>TT	c.(2317-2319)ccc>cTT	p.P773L	ANKRD11_uc002fmy.1_Missense_Mutation_p.P773L|ANKRD11_uc002fnc.1_Missense_Mutation_p.P773L|ANKRD11_uc002fnb.1_Missense_Mutation_p.P730L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	773	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTAATTTTGAGGGCCGGTCTTT	0.332000														39			7		0	0	0.004672	0	0
GNB5	10681	broad.mit.edu	37	15	52416676	52416676	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:52416676G>A	uc002abt.1	-	11	1235	c.1170C>T	c.(1168-1170)acC>acT	p.T390T	GNB5_uc002abr.1_Silent_p.T348T|GNB5_uc002abs.1_Silent_p.T278T	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	390						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TTACTCTGAGGGTATGATCCC	0.522000														33			12		0	0	0.000978	0	0
SDK2	54549	broad.mit.edu	37	17	71357857	71357857	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:71357857C>T	uc010dfm.3	-	38	5433	c.5433G>A	c.(5431-5433)gaG>gaA	p.E1811E	SDK2_uc002jjt.4_Silent_p.E951E|SDK2_uc010dfn.2_Silent_p.E1490E	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1811	Fibronectin type-III 12.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCGATCTCCGGCCCGT	0.637000														35			12		0	0	0.002450	0	0
A2M	2	broad.mit.edu	37	12	9246085	9246085	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:9246085C>T	uc001qvk.1	-	17	2329	c.2216G>A	c.(2215-2217)tGg>tAg	p.W739*	A2M_uc009zgk.1_Nonsense_Mutation_p.W589*	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	739					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)	ATCCCAGATCCATGTCTCAGG	0.458000														29			5		0	0	0.001168	0	0
KRT31	3881	broad.mit.edu	37	17	39550407	39550407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39550407G>A	uc002hwn.3	-	6	1165	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	371	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CGTGGCACAGGGATTGCTGGG	0.532000														58			14		0	0	0.004990	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053841	67053841	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:67053841G>A	uc003dmy.3	+	2	503	c.450G>A	c.(448-450)caG>caA	p.Q150Q	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	150										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TGGACCCACAGAATTCTATTG	0.413000														36			19		0	0	0.007413	0	0
ADAM7	8756	broad.mit.edu	37	8	24350082	24350082	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:24350082G>A	uc003xeb.3	+	14	1740	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	ADAM7_uc003xec.3_Missense_Mutation_p.E315K	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAAAAACAAGGAAAACAGATT	0.368000														105			15		0	0	0.004990	0	0
OR10K2	391107	broad.mit.edu	37	1	158390164	158390164	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158390164G>A	uc010pii.2	-	0	493	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAAGGCAGGTGAAATACCAAG	0.473000														59			18		0	0	0.008871	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279063	36279063	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:36279063C>T	uc002obs.2	+	20	3257	c.3113C>T	c.(3112-3114)cCc>cTc	p.P1038L	ARHGAP33_uc002obt.2_Missense_Mutation_p.P1035L|ARHGAP33_uc002obv.1_Missense_Mutation_p.P787L	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1199					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGTTCAGATCCCGGTCCCCCA	0.687000														27			5		0	0	0.001984	0	0
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:18332977C>T	uc010xqc.2	-	1	879	c.399G>A	c.(397-399)aaG>aaA	p.K133K	PDE4C_uc002nik.4_Silent_p.K133K|PDE4C_uc002nil.4_Silent_p.K133K|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Silent_p.K27K|PDE4C_uc002nii.4_Silent_p.K101K|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Silent_p.K133K	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	133					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGACATGGCCTTGGGCGAGA	0.617000														15			4		0	0	0.000602	0	0
KIF2B	84643	broad.mit.edu	37	17	51900733	51900733	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:51900733G>A	uc002iua.2	+	0	495	c.339G>A	c.(337-339)acG>acA	p.T113T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	113					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.T113M(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						GTACCGCCACGAAATGGGTTG	0.592000														68			16		0	0	0.004007	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647333	79647333	+	RNA	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:79647333G>A	uc010jaj.1	-	0		c.453C>T								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CTGAGCCTTTGGTCTACTTTT	0.458000														32			10		0	0	0.008291	0	0
ARPP21	10777	broad.mit.edu	37	3	35835244	35835244	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:35835244C>G	uc011axy.2	+	18	2448	c.2236C>G	c.(2236-2238)Cca>Gca	p.P746A	ARPP21_uc003cga.3_Missense_Mutation_p.P726A|ARPP21_uc003cgb.3_Missense_Mutation_p.P745A|ARPP21_uc003cgf.3_Missense_Mutation_p.P581A|ARPP21_uc003cgg.3_Missense_Mutation_p.P268A	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	745	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATACCAACAGCCAATCATGCT	0.507000														29			11		0	0	0.008291	0	0
KRT37	8688	broad.mit.edu	37	17	39577662	39577662	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39577662C>T	uc002hwp.1	-	5	1245	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	400	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GTGGCAATCTCGTTCTCCAAC	0.557000														47			12		0	0	0.001368	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566802	103566802	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:103566802C>T	uc001ymk.3	+	0	322	c.246C>T	c.(244-246)tcC>tcT	p.S82S		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	82										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCTCCTGCTCCCTGTTCCGGT	0.667000														21			3		0	0	0.004672	0	0
KRT13	3860	broad.mit.edu	37	17	39661582	39661582	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:39661582C>T	uc002hwu.1	-	0	284	c.221G>A	c.(220-222)gGa>gAa	p.G74E	KRT13_uc002hwv.1_Missense_Mutation_p.G74E|KRT13_uc010wfr.2_Intron|KRT13_uc010cxo.3_Missense_Mutation_p.G74E|KRT13_uc021txk.1_Intron	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	74	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				aaggccacctccatagccacc	0.592000														13			5		0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:131880139G>A	uc003ytd.4	-	8	2419	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	721					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)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)				49			5		0	0	0.001168	0	0
OR4K1	79544	broad.mit.edu	37	14	20404621	20404621	+	Missense_Mutation	SNP	C	T	T	rs147347995		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:20404621C>T	uc001vwj.2	+	0	855	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P266S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCAGACTTCCTGTGGACAA	0.413000														92			20		0	0	0.001523	0	0
IFRD2	7866	broad.mit.edu	37	3	50329968	50329968	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:50329968C>T	uc003czb.3	-	2	290	c.290G>A	c.(289-291)aGc>aAc	p.S97N	IFRD2_uc011bdp.2_5'UTR	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	102							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCGACGGCGGCTAGCTGCGCG	0.652000														14			5		0	0	0.001168	0	0
COX18	285521	broad.mit.edu	37	4	73930991	73930991	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:73930991T>C	uc011cbc.1	-	2	680	c.574A>G	c.(574-576)Agc>Ggc	p.S192G	COX18_uc003hgm.1_Missense_Mutation_p.S192G|COX18_uc003hgn.1_Missense_Mutation_p.S41G|COX18_uc010iih.1_Missense_Mutation_p.S192G	NM_173827	NP_776188	Q8N8Q8	COX18_HUMAN	Homo sapiens COX18 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX18), nuclear gene encoding mitochondrial protein, mRNA.	192					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCCCGTGCTTAAATTCCGG	0.378000														35			11		0	0	0.000978	0	0
RSPO3	84870	broad.mit.edu	37	6	127476502	127476502	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:127476502G>A	uc003qas.1	+	3	843	c.553G>A	c.(553-555)Gca>Aca	p.A185T	RSPO3_uc003qar.3_Missense_Mutation_p.A185T	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	185	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GCATCCTTCAGCAAAGGGTAA	0.438000														26			12		0	0	0.001855	0	0
INPP4B	8821	broad.mit.edu	37	4	142949951	142949952	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:142949951_142949952CC>TT	uc003iix.4	-	26	3353_3354	c.2758_2759GG>AA	c.(2758-2760)gga>AAa	p.G920K	INPP4B_uc003iiw.4_Missense_Mutation_p.G920K|INPP4B_uc011chm.2_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	920					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTCAGCTTTTCCATAAGTCCCC	0.366000														40			6		0	0	0.004672	0	0
LILRB5	10990	broad.mit.edu	37	19	54756349	54756349	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:54756349C>T	uc010yer.1	-	10	1622	c.1511_splice	c.e10+1	p.R504_splice	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Splice_Site_p.R513_splice|LILRB5_uc002qez.3_Splice_Site_p.R413_splice|LILRB5_uc002qex.3_Splice_Site_p.R512_splice|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	512					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGAATTACCTCTTCTGCAG	0.632000														67			20		0	0	0.008871	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	G	G	rs139954536	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000														72			4		0	0	0.000602	0	0
KEAP1	9817	broad.mit.edu	37	19	10610321	10610321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:10610321G>A	uc002moq.1	-	1	545	c.389C>T	c.(388-390)cCc>cTc	p.P130L	KEAP1_uc002mor.1_Missense_Mutation_p.P130L	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	130	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CATGACCTTGGGGTGGATACC	0.587000														35			8		0	0	0.006214	0	0
HHIPL1	84439	broad.mit.edu	37	14	100126712	100126712	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:100126712G>A	uc010avs.3	+	4	1536	c.1471G>A	c.(1471-1473)Ggc>Agc	p.G491S	HHIPL1_uc001ygl.1_Missense_Mutation_p.G491S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	491					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAACCTGAACGGCCTCTACAT	0.602000														34			11		0	0	0.001855	0	0
MEST	4232	broad.mit.edu	37	7	130135307	130135307	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:130135307C>T	uc003vqg.3	+	1	381	c.125C>T	c.(124-126)tCa>tTa	p.S42L	MEST_uc003vqc.3_Missense_Mutation_p.S33L|MEST_uc003vqd.3_Missense_Mutation_p.S33L|MEST_uc022alp.1_Missense_Mutation_p.S33L|MEST_uc003vqf.3_Missense_Mutation_p.S33L|MEST_uc011kph.2_Missense_Mutation_p.S42L|MIR335_uc011kpi.2_5'Flank	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	42					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GCCCTTCACTCATGGAAGTCT	0.557000														401			70		0	0	0.003610	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203689	23203689	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23203689C>A	uc002dlm.1	+	3	774	c.635C>A	c.(634-636)tCc>tAc	p.S212Y		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	212					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	AATGACACCTCCGACTGTGCC	0.498000														66			32		2.20474e-14	2.8888e-14	0.003755	1	0
PCDH15	65217	broad.mit.edu	37	10	55569273	55569273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:55569273C>T	uc021pqw.1	-	35	4941	c.4546G>A	c.(4546-4548)Gaa>Aaa	p.E1516K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Silent_p.L1529L|PCDH15_uc010qht.2_Missense_Mutation_p.E1511K|PCDH15_uc021pqx.1_Silent_p.L1527L	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					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)				TCTCTAATTTCAACCTTTGGT	0.403000										HNSCC(58;0.16)				137			24		0	0	0.006320	0	0
HLCS	3141	broad.mit.edu	37	21	38309625	38309625	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:38309625G>A	uc010gnb.3	-	4	1534	c.120C>T	c.(118-120)atC>atT	p.I40I	HLCS_uc021wjb.1_Silent_p.I40I|HLCS_uc002yvs.3_Silent_p.I40I|HLCS_uc010gnc.2_Silent_p.I187I	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	40					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TCGGCTCTAGGATCTGGGCTT	0.498000														45			20		0	0	0.001523	0	0
BICC1	80114	broad.mit.edu	37	10	60549603	60549603	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:60549603C>T	uc001jki.1	+	7	957	c.957C>T	c.(955-957)caC>caT	p.H319H		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	319	KH 2.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CTCAGATCCACTTTCCTGATC	0.443000														67			11		0	0	0.008291	0	0
abParts	0	broad.mit.edu	37	14	107078514	107078514	+	RNA	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:107078514G>A	uc021ser.1	-	135		c.6160C>T								Parts of antibodies, mostly variable regions.																		TGCCAACGACGATCCATCCTA	0.522000														46			8		0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21231015	21231015	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:21231015C>T	uc002red.3	-	25	8853	c.8725G>A	c.(8725-8727)Gag>Aag	p.E2909K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2909					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)	GTCTTGATCTCGTTGCGCAGG	0.468000														527			139		0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121712426	121712426	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:121712426C>T	uc003ees.3	-	6	1373	c.1170G>A	c.(1168-1170)ttG>ttA	p.L390L	ILDR1_uc003eeq.3_Silent_p.L358L|ILDR1_uc003eer.3_Silent_p.L346L|ILDR1_uc010hrg.3_Silent_p.L301L	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	390						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCCTTCTTTCCAATGCCCAAG	0.587000														42			11		0	0	0.000978	0	0
PCSK5	5125	broad.mit.edu	37	9	78641900	78641900	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:78641900G>A	uc004akc.2	+	4	1117	c.579G>A	c.(577-579)gtG>gtA	p.V193V	PCSK5_uc004ajy.2_Silent_p.V193V|PCSK5_uc004ajz.3_Silent_p.V193V|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	193	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GTTGCGACGTGAATGGGAATG	0.512000														34			8		0	0	0.006214	0	0
CDS1	1040	broad.mit.edu	37	4	85538786	85538786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:85538786G>A	uc011ccv.2	+	3	910	c.412G>A	c.(412-414)Gat>Aat	p.D138N		NM_001263	NP_001254	Q92903	CDS1_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA.	138					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTCTTATGATCTACCATG	0.328000														36			11		0	0	0.002450	0	0
APBA3	9546	broad.mit.edu	37	19	3760157	3760157	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:3760157G>A	uc002lyp.1	-	1	283	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	MRPL54_uc002lyq.4_5'Flank	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	36					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCCACTGGCTGTCAGGG	0.617000														33			13		0	0	0.003163	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6244485	6244486	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:6244485_6244486CC>TT	uc002kmz.4	-	5	481_482	c.321_322GG>AA	c.(319-324)gcggag>gcAAag	p.E108K	L3MBTL4_uc002kmy.4_Missense_Mutation_p.E108K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E108K	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	108					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A107A(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCTCTTACCTCCGCTACAGAAA	0.376000														64			20		0	0	0.004672	0	0
OR2L2	26246	broad.mit.edu	37	1	248201574	248201574	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248201574A>T	uc001idw.3	+	0	101	c.5A>T	c.(4-6)gAa>gTa	p.E2V	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	2					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)			TTCCCCATGGAAAATTACAAT	0.383000														61			14		0	0	0.002450	0	0
SRGAP3	9901	broad.mit.edu	37	3	9027346	9027346	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:9027346G>A	uc003brf.1	-	21	3833	c.3157C>T	c.(3157-3159)Cgc>Tgc	p.R1053C	SRGAP3_uc003brg.1_Missense_Mutation_p.R1029C	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	1053					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGGGGCGGGCGGAGCTGGGCG	0.746000			T	RAF1	pilocytic astrocytoma									23			4		0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221732	140221732	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140221732G>A	uc003lhs.2	+	0	826	c.826G>A	c.(826-828)Gca>Aca	p.A276T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.A276T	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	291	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)			AGCCAATGGGGCAATTTCATA	0.388000														38			8		0	0	0.003080	0	0
VPS13B	157680	broad.mit.edu	37	8	100654325	100654325	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:100654325C>T	uc003yiv.3	+	33	5693	c.5582C>T	c.(5581-5583)tCa>tTa	p.S1861L	VPS13B_uc003yiw.3_Missense_Mutation_p.S1836L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1861					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)			AAATCGAAATCACAAGAACAG	0.338000														59			11		0	0	0.008291	0	0
PIGQ	9091	broad.mit.edu	37	16	624430	624430	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:624430G>A	uc002cho.3	+	1	494	c.356G>A	c.(355-357)gGt>gAt	p.G119D	PIGQ_uc010bqw.3_Missense_Mutation_p.G119D|PIGQ_uc002chm.3_Missense_Mutation_p.G119D|PIGQ_uc002chn.3_Missense_Mutation_p.G119D|PIGQ_uc010uui.2_Missense_Mutation_p.G133D	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	119					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACTGCCCCCGGTGCCCCTGGT	0.682000														20			4		0	0	0.000602	0	0
XPO6	23214	broad.mit.edu	37	16	28118943	28118943	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:28118943G>A	uc002dpa.1	-	17	2898	c.2397C>T	c.(2395-2397)atC>atT	p.I799I	XPO6_uc002dpb.1_Silent_p.I785I|XPO6_uc010vcp.1_Silent_p.I799I	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	799					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACTCCCCCGAGATATTCTCCA	0.483000														71			12		0	0	0.003163	0	0
COL4A2	1284	broad.mit.edu	37	13	111132648	111132648	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:111132648G>A	uc001vqx.3	+	30	2958	c.2669G>A	c.(2668-2670)gGa>gAa	p.G890E		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	890	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGTGACAGAGGAGATGCTGGC	0.572000														39			12		0	0	0.001368	0	0
SNRNP200	23020	broad.mit.edu	37	2	96952165	96952165	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:96952165G>A	uc002svu.3	-	28	4019	c.3887C>T	c.(3886-3888)cCc>cTc	p.P1296L	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.	1296						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						GGTTGGAGGGGGGTACTTCTC	0.498000														67			14		0	0	0.002450	0	0
OR6C70	390327	broad.mit.edu	37	12	55863664	55863664	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:55863664C>T	uc010spn.2	-	0	259	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						ATGGTCTTTTCCCTGGTAACA	0.383000														36			10		0	0	0.006214	0	0
ERC2	26059	broad.mit.edu	37	3	55768834	55768834	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:55768834C>T	uc021wzo.1	-	13	2817	c.2677G>A	c.(2677-2679)Gaa>Aaa	p.E893K	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Missense_Mutation_p.E889K|ERC2_uc003dht.1_Missense_Mutation_p.E372K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	893						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)		CGGTCTTTTTCCCGCTTGAGG	0.483000														19			9		0	0	0.008291	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645890	19645890	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:19645890C>T	uc002nmt.2	+	3	438	c.366C>T	c.(364-366)gtC>gtT	p.V122V	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Silent_p.V121V|YJEFN3_uc010ecf.2_Silent_p.V72V|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	122	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CGGTGCTGGTCGTGTGTGGCC	0.642000														107			14		0	0	0.004007	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975883	76975883	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:76975883A>G	uc002snr.3	-	3	2126	c.1711T>C	c.(1711-1713)Ttc>Ctc	p.F571L	LRRTM4_uc002snq.3_Missense_Mutation_p.F571L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	571						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTGGCGATGAAGCTGTGGTCT	0.617000														130			28		0	0	0.002445	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135098965	135098965	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:135098965G>A	uc010qvc.1	-	12	2331	c.1974C>T	c.(1972-1974)atC>atT	p.I658I	TUBGCP2_uc001lmf.1_Silent_p.I223I|TUBGCP2_uc001lmg.1_Silent_p.I630I|TUBGCP2_uc010qvd.1_Silent_p.I500I|TUBGCP2_uc009ybk.1_Intron|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	630					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.S657S(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CGCACCTGTTGATGATGAGCG	0.637000														34			10		0	0	0.008291	0	0
HK1	3098	broad.mit.edu	37	10	71103614	71103614	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:71103614C>T	uc001jpl.4	+	1	196	c.95C>T	c.(94-96)tCc>tTc	p.S32F	HK1_uc009xqc.1_Missense_Mutation_p.P96S|HK1_uc001jpg.4_Missense_Mutation_p.S20F|HK1_uc001jph.4_Missense_Mutation_p.S36F|HK1_uc001jpi.4_Missense_Mutation_p.S36F|HK1_uc001jpj.4_Missense_Mutation_p.S67F|HK1_uc001jpk.4_Missense_Mutation_p.S31F|HK1_uc009xqd.3_5'UTR	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	32	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						ATGCGGCTCTCCGATGAAACT	0.527000														88			22		0	0	0.002299	0	0
SV2C	22987	broad.mit.edu	37	5	75591627	75591627	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:75591627C>T	uc003kei.1	+	8	1496	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	454					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCGTTTGGTTCCCTGATGTCA	0.393000														103			17		0	0	0.008871	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891723	18891723	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:18891723G>A	uc001rdy.3	+	0	679	c.521G>A	c.(520-522)tGg>tAg	p.W174*	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	174					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAATCTAAATGGATTTTCCAA	0.383000														40			6		0	0	0.003080	0	0
NFATC2	4773	broad.mit.edu	37	20	50139727	50139727	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:50139727G>A	uc002xwd.3	-	1	1273	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	NFATC2_uc002xwc.3_Silent_p.F351F|NFATC2_uc010zyv.2_Silent_p.F132F|NFATC2_uc010zyw.2_Silent_p.F132F|NFATC2_uc002xwe.3_Silent_p.F331F|NFATC2_uc010zyx.2_Silent_p.F331F|NFATC2_uc010zyy.2_Silent_p.F132F|NFATC2_uc010zyz.2_Silent_p.F132F	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	351					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					AGGGCCCCAGGAACTCCACGG	0.677000														108			19		0	0	0.006122	0	0
ATP10D	57205	broad.mit.edu	37	4	47537581	47537581	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:47537581G>A	uc003gxk.1	+	5	996	c.832G>A	c.(832-834)Gga>Aga	p.G278R	ATP10D_uc003gxl.1_5'Flank|ATP10D_uc003gxj.3_Missense_Mutation_p.G278R	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	278					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTTGCTTAGAGGATGCACCAT	0.373000														50			10		0	0	0.000978	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817356	69817356	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:69817356G>A	uc003hef.2	-	0	154	c.123C>T	c.(121-123)gtC>gtT	p.V41V	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	41						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTCTAGAATGACCTTGACAT	0.463000														45			13		0	0	0.001855	0	0
MED13L	23389	broad.mit.edu	37	12	116460261	116460261	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:116460261C>T	uc001tvw.3	-	5	680	c.625_splice	c.e5+1	p.V209_splice		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	209					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCATACTTACCTTGAAATGGT	0.463000														25			5		0	0	0.001168	0	0
KCNJ5	3762	broad.mit.edu	37	11	128782088	128782088	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:128782088G>A	uc001qet.3	+	1	1234	c.920G>A	c.(919-921)gGg>gAg	p.G307E	KCNJ5_uc009zck.3_Missense_Mutation_p.G307E|KCNJ5_uc001qew.3_Missense_Mutation_p.G307E	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	307					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ATTCTAGAAGGGATGGTGGAA	0.517000														44			14		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179632521	179632521	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179632521C>T	uc021vsy.1	-	39	9661	c.9436G>A	c.(9436-9438)Gat>Aat	p.D3146N	TTN_uc021vsz.1_Missense_Mutation_p.D3100N|TTN_uc021vta.1_Missense_Mutation_p.D3100N|TTN_uc021vtb.1_Missense_Mutation_p.D3100N|TTN_uc002unb.2_Missense_Mutation_p.D3146N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3146							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)			ATGCGAACATCTCTGCCTTCT	0.418000														45			25		0	0	0.003954	0	0
EVC2	132884	broad.mit.edu	37	4	5667321	5667321	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:5667321G>A	uc003gij.3	-	7	980	c.926C>T	c.(925-927)tCc>tTc	p.S309F	EVC2_uc003gik.3_Missense_Mutation_p.S229F|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	309						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGCACAAGGGAGAGGAGGAA	0.577000														33			8		0	0	0.004482	0	0
LRRC7	57554	broad.mit.edu	37	1	70477588	70477588	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:70477588C>T	uc001dep.3	+	9	1029	c.999C>T	c.(997-999)ttC>ttT	p.F333F	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	333						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGAGAATTTCCTTCCAGAAT	0.328000														32			4		0	0	0.000248	0	0
TAOK1	57551	broad.mit.edu	37	17	27825354	27825354	+	Missense_Mutation	SNP	G	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:27825354G>T	uc002hdz.2	+	11	1212	c.1018G>T	c.(1018-1020)Ggc>Tgc	p.G340C	TAOK1_uc010wbe.2_Missense_Mutation_p.G340C|TAOK1_uc002heb.1_Missense_Mutation_p.G166C	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	340					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCATGGTGTTGGCCGGACAGG	0.403000														65			13		2.32078e-09	3.0345e-09	0.003163	1	0
EIF2AK3	9451	broad.mit.edu	37	2	88882949	88882949	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:88882949G>A	uc002stc.4	-	10	2065	c.1763_splice	c.e10+1	p.R588_splice		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	588			R -> Q (in WRS; in a Pakistani family; probable complete loss of activity).		ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GACTCTTACCGTGATATATAT	0.303000														276			60		0	0	0.003610	0	0
IGHG1	3500	broad.mit.edu	37	14	106208121	106208121	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:106208121C>T	uc001yse.3	-	4	726	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		ACCTGTGGTTCTCGGGGCTGC	0.647000														94			16		0	0	0.004007	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110448612	110448612	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:110448612C>T	uc003yne.3	+	29	3655	c.3551C>T	c.(3550-3552)tCa>tTa	p.S1184L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1184	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1186L(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGAAAATTCAAAGGTATTA	0.348000										HNSCC(38;0.096)				64			13		0	0	0.001855	0	0
LCP2	3937	broad.mit.edu	37	5	169677790	169677790	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:169677790G>A	uc003man.1	-	19	1630	c.1423C>T	c.(1423-1425)Cgt>Tgt	p.R475C	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.R270C|LCP2_uc011det.1_Missense_Mutation_p.R304C	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	475	SH2.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTCTGATAACGGATCTGGATG	0.383000														64			16		0	0	0.006122	0	0
OR2F2	135948	broad.mit.edu	37	7	143633111	143633111	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143633111C>T	uc011ktv.2	+	0	786	c.786C>T	c.(784-786)ccC>ccT	p.P262P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACATCCAGCCCCACTCTGGTC	0.488000														69			12		0	0	0.002450	0	0
MRVI1	10335	broad.mit.edu	37	11	10647629	10647629	+	Missense_Mutation	SNP	C	T	T	rs11604405		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:10647629C>T	uc010rcc.1	-	8	1638	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	MRVI1_uc010rcb.1_Missense_Mutation_p.E410K|MRVI1_uc001miw.2_Missense_Mutation_p.E409K|MRVI1_uc001mix.3_Missense_Mutation_p.E103K|MRVI1_uc001miz.2_Missense_Mutation_p.E327K|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.E103K|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	391					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGCTTTTCTTCCTCTGCCAGT	0.627000														13			4		0	0	0.000248	0	0
FAM208B	54906	broad.mit.edu	37	10	5791587	5791587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:5791587C>T	uc001iij.3	+	14	6828	c.6203C>T	c.(6202-6204)tCt>tTt	p.S2068F	FAM208B_uc001iik.3_Missense_Mutation_p.S912F	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	2068																	AGCTCTTCCTCTTGGAGAGAG	0.473000														38			9		0	0	0.004482	0	0
ANK3	288	broad.mit.edu	37	10	61829367	61829367	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:61829367C>T	uc001jky.3	-	36	11610	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	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.	3758					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						GTTATAGTTTCATTTTCTAAT	0.378000														118			24		0	0	0.002780	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882972	78882972	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:78882972C>T	uc002bdy.3	+	4	1439	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	413					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						AAAATGATGTCCGTGAGGTCT	0.388000														20			5		0	0	0.000602	0	0
WNT10B	7480	broad.mit.edu	37	12	49360131	49360131	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:49360131C>T	uc001rss.3	-	4	1361	c.917G>A	c.(916-918)gGa>gAa	p.G306E	WNT10B_uc001rst.3_3'UTR	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	306					Wnt receptor signaling pathway, calcium modulating pathway|axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GACCAGCTCTCCTGAGAGGCG	0.637000														81			18		0	0	0.002780	0	0
RANBP6	26953	broad.mit.edu	37	9	6015639	6015640	+	Splice_Site	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:6015639_6015640GG>AA	uc003zjr.3	-	1	1	c.-32_splice	c.e1-1		RANBP6_uc011lmf.2_Splice_Site|RANBP6_uc003zjs.3_Splice_Site	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.						protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CGACCGGGAAGGAGGGAGGGGG	0.649000														20			7		0	0	0.004672	0	0
KL	9365	broad.mit.edu	37	13	33628169	33628169	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:33628169G>A	uc001uus.3	+	1	1093	c.1085G>A	c.(1084-1086)gGa>gAa	p.G362E	KL_uc001uur.1_Missense_Mutation_p.G55E	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	362	Glycosyl hydrolase-1 1.				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)		TTCATCAAAGGAACTGCTGAC	0.413000														84			24		0	0	0.005443	0	0
PARP16	54956	broad.mit.edu	37	15	65553305	65553305	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:65553305G>A	uc002aoq.3	-	4	1005	c.751C>T	c.(751-753)Cct>Tct	p.P251S	PARP16_uc002aoo.3_Missense_Mutation_p.P251S|PARP16_uc002aop.3_Missense_Mutation_p.P136S	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	251	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TACTTGGGAGGGATGTCTCCC	0.483000														84			18		0	0	0.006122	0	0
ZNF608	57507	broad.mit.edu	37	5	123984196	123984196	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:123984196G>A	uc003ktq.1	-	3	2064	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Silent_p.S627S|ZNF608_uc003ktt.1_Silent_p.S627S	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	627						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)		CAGCACCAGGGGATGCCGGTG	0.512000														28			12		0	0	0.000978	0	0
TTN	7273	broad.mit.edu	37	2	179569401	179569401	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:179569401G>A	uc021vsy.1	-	101	26291	c.26066C>T	c.(26065-26067)tCg>tTg	p.S8689L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5350L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9616	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8689L(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)			TTTGTACCACGAAAGCTTGAT	0.338000														22			11		0	0	0.008291	0	0
DPPA2	151871	broad.mit.edu	37	3	109031524	109031524	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:109031524C>T	uc003dxo.3	-	2	296	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	17						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCATCTACTTCCCCCTCCAAG	0.398000														50			14		0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141762457	141762457	+	Missense_Mutation	SNP	T	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:141762457T>A	uc003vwy.3	+	34	4266	c.4212T>A	c.(4210-4212)aaT>aaA	p.N1404K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1404	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATACAACAATCCACAGAATC	0.428000														27			11		0	0	0.008291	0	0
ESRRG	2104	broad.mit.edu	37	1	216680421	216680421	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:216680421G>A	uc001hkw.2	-	6	1410	c.1237C>T	c.(1237-1239)Cga>Tga	p.R413*	ESRRG_uc009xdp.1_Nonsense_Mutation_p.R390*|ESRRG_uc001hky.1_Nonsense_Mutation_p.R390*|ESRRG_uc001hkz.2_Nonsense_Mutation_p.R351*|ESRRG_uc010puc.2_Nonsense_Mutation_p.R390*|ESRRG_uc001hla.2_Nonsense_Mutation_p.R390*|ESRRG_uc001hlb.2_Nonsense_Mutation_p.R390*|ESRRG_uc010pud.2_Nonsense_Mutation_p.R228*|ESRRG_uc021pja.1_Nonsense_Mutation_p.R162*|ESRRG_uc001hlc.1_Nonsense_Mutation_p.R390*|ESRRG_uc001hld.1_Nonsense_Mutation_p.R390*|ESRRG_uc001hkx.2_Nonsense_Mutation_p.R425*|ESRRG_uc009xdo.2_Nonsense_Mutation_p.R390*|ESRRG_uc001hle.2_Nonsense_Mutation_p.R390*|ESRRG_uc021piz.1_Nonsense_Mutation_p.R390*	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	413					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502000														50			16		0	0	0.004990	0	0
IL4R	3566	broad.mit.edu	37	16	27373776	27373776	+	Missense_Mutation	SNP	C	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:27373776C>G	uc002don.3	+	10	1345	c.1103C>G	c.(1102-1104)cCg>cGg	p.P368R	IL4R_uc002dop.4_Missense_Mutation_p.P353R|IL4R_uc010bxy.3_Missense_Mutation_p.P368R|IL4R_uc002doo.3_Missense_Mutation_p.P208R	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	368					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTTGAGGCCCCGGTGGAGTGT	0.582000														32			13		0	0	0.001368	0	0
PHKB	5257	broad.mit.edu	37	16	47630348	47630348	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:47630348C>T	uc002eev.4	+	12	1321	c.1269C>T	c.(1267-1269)aaC>aaT	p.N423N	PHKB_uc002eeu.4_Silent_p.N416N	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	423					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AAAAAAATAACCCTGGTAGTC	0.353000														65			17		0	0	0.004007	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017492	100017492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:100017492G>A	uc003uut.3	-	3	291	c.43C>T	c.(43-45)Cca>Tca	p.P15S	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14S|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14S|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14S|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14S	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	15							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)					ATTCTCTTTGGTCCCTTTCCA	0.448000														41			7		0	0	0.003080	0	0
MICALL2	79778	broad.mit.edu	37	7	1474239	1474239	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:1474239G>A	uc003skj.4	-	16	2855	c.2708C>T	c.(2707-2709)tCc>tTc	p.S903F	MICALL2_uc003ski.4_Silent_p.L388L	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	903						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTACTACTGGGAGGGGCTGCT	0.627000														61			14		0	0	0.001855	0	0
HDAC9	9734	broad.mit.edu	37	7	18688106	18688106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:18688106C>T	uc003sui.3	+	9	1308	c.1267C>T	c.(1267-1269)Cct>Tct	p.P423S	HDAC9_uc003sue.3_Missense_Mutation_p.P420S|HDAC9_uc011jyd.2_Missense_Mutation_p.P420S|HDAC9_uc003suh.3_Missense_Mutation_p.P420S|HDAC9_uc003suj.3_Missense_Mutation_p.P379S|HDAC9_uc011jya.2_Missense_Mutation_p.P418S|HDAC9_uc003sua.1_Missense_Mutation_p.P398S|HDAC9_uc003sud.2_Missense_Mutation_p.P420S|HDAC9_uc011jyc.2_Missense_Mutation_p.P379S|HDAC9_uc011jyb.2_Missense_Mutation_p.P376S|HDAC9_uc003suf.2_Missense_Mutation_p.P451S|HDAC9_uc010kud.2_Missense_Mutation_p.P423S|HDAC9_uc011jye.2_Missense_Mutation_p.P392S|HDAC9_uc011jyf.2_Missense_Mutation_p.P343S|HDAC9_uc010kue.1_Missense_Mutation_p.P163S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	420					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCCCTTACATCCTCAGTCTCC	0.438000														62			17		0	0	0.004007	0	0
ASAP2	8853	broad.mit.edu	37	2	9515056	9515056	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:9515056C>T	uc002qzh.2	+	16	2069	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	ASAP2_uc002qzi.2_Missense_Mutation_p.P577S	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	577					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAAAAATCCCACTGGCCAA	0.473000														76			18		0	0	0.007413	0	0
CNST	163882	broad.mit.edu	37	1	246810636	246810637	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:246810636_246810637CC>TT	uc001ibp.3	+	8	1511_1512	c.1133_1134CC>TT	c.(1132-1134)tcc>tTT	p.S378F	CNST_uc001ibo.4_Missense_Mutation_p.S378F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	378					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACCCAGTCCTCCGAGACAGCAG	0.589000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			23		0	0	0.004672	0	0
PLOD3	8985	broad.mit.edu	37	7	100856395	100856395	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:100856395G>A	uc003uyd.3	-	6	1226	c.770C>T	c.(769-771)cCc>cTc	p.P257L		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	257					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.G256D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CACCTTAGTGGGACCGTTTCC	0.602000														35			8		0	0	0.003080	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119217204	119217204	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:119217204A>G	uc010rzg.1	-	0	180	c.20T>C	c.(19-21)gTc>gCc	p.V7A	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	7					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCAGAGGATGACATCTGAGAA	0.567000														48			3		0	0	0.000602	0	0
KALRN	8997	broad.mit.edu	37	3	124209608	124209608	+	Silent	SNP	G	A	A	rs139928910		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:124209608G>A	uc003ehg.3	+	29	4585	c.4458G>A	c.(4456-4458)ccG>ccA	p.P1486P	KALRN_uc010hrv.1_Silent_p.P1477P|KALRN_uc003ehf.1_Silent_p.P1486P|KALRN_uc011bjy.1_Silent_p.P1477P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1486	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P1486P(3)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGTGGGACCCGAAGTCGCTGA	0.507000														51			9		0	0	0.004482	0	0
PLCG1	5335	broad.mit.edu	37	20	39801087	39801087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:39801087C>T	uc002xjp.1	+	25	3053	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	PLCG1_uc002xjo.1_Missense_Mutation_p.R978W|PLCG1_uc010zwe.1_Missense_Mutation_p.R604W	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	978	PI-PLC Y-box.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGCTTGCTACCGGGACATGTC	0.517000														21			7		0	0	0.001984	0	0
UNC79	57578	broad.mit.edu	37	14	94069615	94069615	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:94069615A>G	uc001ybv.1	+	22	3157	c.3074A>G	c.(3073-3075)aAc>aGc	p.N1025S	UNC79_uc001ybs.1_Missense_Mutation_p.N1025S	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1202						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AATGTTGCTAACCTCAGCGAT	0.478000														93			36		0	0	0.007835	0	0
GRIN2B	2904	broad.mit.edu	37	12	13724791	13724791	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:13724791C>T	uc001rbt.2	-	9	2297	c.2118G>A	c.(2116-2118)atG>atA	p.M706I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	706					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.M706I(2)		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)	TGAACTTTCCCATGTAGGCAT	0.478000														100			17		0	0	0.004990	0	0
CALHM1	255022	broad.mit.edu	37	10	105218494	105218494	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:105218494G>A	uc001kxe.2	-	0	155	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	5						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						AGATCATCCGGAACTTGTCCA	0.627000														21			4		0	0	0.000248	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260065	44260065	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:44260065G>A	uc010xcy.1	-	7	1747	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ST8SIA5_uc002lci.1_Silent_p.F204F|ST8SIA5_uc002lcj.1_Silent_p.F357F|ST8SIA5_uc010xcz.1_Silent_p.F326F	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	357					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCAAGTGCAGGAAGTTGAAGA	0.642000														49			17		0	0	0.006122	0	0
TLL1	7092	broad.mit.edu	37	4	166915607	166915607	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:166915607C>T	uc003irh.2	+	3	1083	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	TLL1_uc021xud.1_Missense_Mutation_p.P146S|TLL1_uc011cjn.2_Missense_Mutation_p.P146S|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	146					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)		AAATCGAGTTCCCAGAGCCGC	0.423000														46			7		0	0	0.001984	0	0
TMX2	51075	broad.mit.edu	37	11	57506652	57506652	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:57506652C>T	uc001nlc.2	+	6	760	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Silent_p.L128L|TMX2_uc001nle.2_Silent_p.L184L|TMX2_uc021qji.1_Non-coding_Transcript|C11orf31_uc021qjj.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	222	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TACCCTGATCCTGTTCCAAGG	0.527000														68			26		0	0	0.007291	0	0
SLC7A10	56301	broad.mit.edu	37	19	33701437	33701437	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:33701437C>T	uc002num.2	-	8	1346	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	SLC7A10_uc002nul.2_Missense_Mutation_p.G247D	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	400					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GATGGTGACGCCGTAGCAGAG	0.647000														25			8		0	0	0.003080	0	0
SERPINB7	8710	broad.mit.edu	37	18	61471555	61471555	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:61471555C>T	uc002ljl.3	+	7	925	c.829C>T	c.(829-831)Cct>Tct	p.P277S	SERPINB7_uc002ljm.3_Missense_Mutation_p.P277S|SERPINB7_uc010xet.2_Missense_Mutation_p.P260S|SERPINB7_uc010dqg.3_Missense_Mutation_p.P277S	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	277					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGTATTTTTTCCTCAGTTCAA	0.353000														25			10		0	0	0.006214	0	0
XPO6	23214	broad.mit.edu	37	16	28123301	28123301	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:28123301G>A	uc002dpa.1	-	16	2679	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	XPO6_uc002dpb.1_Silent_p.L712L|XPO6_uc010vcp.1_Silent_p.L726L	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	726					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGATGTTAGAGAGGGCTCGGC	0.592000														8			3		0	0	0.000248	0	0
CCNL1	57018	broad.mit.edu	37	3	156867343	156867343	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:156867343G>A	uc003fbf.3	-	8	1663	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	CCNL1_uc003fbd.1_Missense_Mutation_p.S355F|CCNL1_uc003fbe.3_Missense_Mutation_p.S149F|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript|CCNL1_uc003fbi.1_Missense_Mutation_p.S200F	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	355					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CACATTAATGGAGATTGGTGA	0.383000														68			14		0	0	0.003163	0	0
OR9Q1	219956	broad.mit.edu	37	11	57947716	57947716	+	Missense_Mutation	SNP	C	T	T	rs142831243		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:57947716C>T	uc021qjm.1	+	0	800	c.800C>T	c.(799-801)tCg>tTg	p.S267L	OR9Q1_uc001nmj.3_Missense_Mutation_p.S267L	NM_001005212	NP_001005212	Q8NGQ5	OR9Q1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 1 (OR9Q1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GATCAGTCTTCGGAGAAGAAT	0.512000														74			11		0	0	0.001855	0	0
KAT6A	7994	broad.mit.edu	37	8	41798675	41798675	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:41798675G>A	uc010lxb.3	-	15	3268	c.2724C>T	c.(2722-2724)gcC>gcT	p.A908A	KAT6A_uc010lxc.3_Silent_p.A908A|KAT6A_uc003xon.4_Silent_p.A908A	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	908					histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										GTTCCTGGGTGGCTTCTGATT	0.493000														66			10		0	0	0.008291	0	0
FLNC	2318	broad.mit.edu	37	7	128494692	128494692	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:128494692G>A	uc003vnz.4	+	40	7162	c.6953G>A	c.(6952-6954)cGg>cAg	p.R2318Q	FLNC_uc003voa.4_Missense_Mutation_p.R2285Q	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2318					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACAAGGTGCGGGCCGGAGGC	0.687000														24			6		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202108	140202108	+	Silent	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140202108T>C	uc003lhl.2	+	0	748	c.748T>C	c.(748-750)Ttg>Ctg	p.L250L	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_uc003lhk.1_Silent_p.L250L|PCDHAC2_uc003lhj.1_Silent_p.L250L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	266	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)			TAATGTCAGATTGTTGGAAAA	0.363000														46			10		0	0	0.008291	0	0
SGSH	6448	broad.mit.edu	37	17	78188094	78188095	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:78188094_78188095GG>AA	uc002jxz.4	-	4	626_627	c.539_540CC>TT	c.(538-540)ccc>cTT	p.P180L	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.P180L|SGSH_uc010wue.1_Missense_Mutation_p.P192F	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	180					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CACAGCGGTGGGGGTCGTGGAA	0.653000														29			5		0	0	0.004672	0	0
MON2	23041	broad.mit.edu	37	12	62926306	62926306	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:62926306C>T	uc001sre.3	+	11	1880	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	MON2_uc010ssn.2_Missense_Mutation_p.R497C|MON2_uc009zqj.3_Missense_Mutation_p.R497C|MON2_uc010ssl.2_Missense_Mutation_p.R425C|MON2_uc010ssm.2_Missense_Mutation_p.R497C|MON2_uc001srf.3_Missense_Mutation_p.R260C	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	497					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AGACCTTGTTCGTGGAATCAC	0.428000														38			10		0	0	0.001368	0	0
CXorf22	170063	broad.mit.edu	37	X	35959408	35959408	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:35959408C>T	uc004ddj.3	+	2	476	c.410C>T	c.(409-411)cCa>cTa	p.P137L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	137										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTTGATTCCATCCTGTCAA	0.348000														17			11		0	0	0.000978	0	0
PTPRD	5789	broad.mit.edu	37	9	8521304	8521304	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:8521304C>T	uc003zkk.3	-	19	1677	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PTPRD_uc003zkp.3_Missense_Mutation_p.E312K|PTPRD_uc003zkq.3_Missense_Mutation_p.E312K|PTPRD_uc003zkr.3_Missense_Mutation_p.E306K|PTPRD_uc003zks.3_Missense_Mutation_p.E302K|PTPRD_uc022bdj.1_Missense_Mutation_p.E309K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	312	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCTATTGCTTCAATGACACCC	0.418000										TSP Lung(15;0.13)				34			9		0	0	0.006214	0	0
EIF3IP1	442720	broad.mit.edu	37	7	109599814	109599814	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:109599814C>T	uc003vfp.1	-	0	457	c.284G>A	c.(283-285)aGt>aAt	p.S95N						Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																		TTTAGAGTCACTGCAAGGGAT	0.493000														26			8		0	0	0.004482	0	0
SLC6A18	348932	broad.mit.edu	37	5	1235773	1235773	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:1235773G>A	uc003jby.2	+	3	740	c.617G>A	c.(616-618)gGg>gAg	p.G206E		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGACTACAGGGAAGGTGAGA	0.567000														73			13		0	0	0.001855	0	0
ZNF799	90576	broad.mit.edu	37	19	12501407	12501407	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:12501407G>A	uc010dyt.3	-	3	2009	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TCTATGCAAGGAACTGAGAGA	0.413000														68			19		0	0	0.005443	0	0
PATZ1	23598	broad.mit.edu	37	22	31722980	31722980	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:31722980G>A	uc003akq.3	-	4	2622	c.1961C>T	c.(1960-1962)tCt>tTt	p.S654F	PATZ1_uc003akp.3_3'UTR|PATZ1_uc003akr.3_Missense_Mutation_p.S608F	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	654					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CTCGAGGAGAGACATGTTCTG	0.567000														51			24		0	0	0.004656	0	0
PDIA2	64714	broad.mit.edu	37	16	333347	333348	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:333347_333348CC>TT	uc002cgn.1	+	5	1286_1287	c.178_179CC>TT	c.(178-180)cct>TTt	p.P60F	LUC7L_uc021szo.1_Intron|ARHGDIG_uc002cgm.1_3'UTR|PDIA2_uc002cgo.1_Missense_Mutation_p.P60F|PDIA2_uc010bqt.1_5'UTR	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	60	Thioredoxin 1.				apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCGGGAGCACCCTGCCCTGCTG	0.703000														33			9		0	0	0.004672	0	0
CALB2	794	broad.mit.edu	37	16	71406132	71406132	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:71406132G>A	uc002faa.4	+	2	251	c.171_splice	c.e2+1	p.M57_splice	CALB2_uc010vme.2_Splice_Site|CALB2_uc002fac.4_Splice_Site_p.M57_splice	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	57							calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTCTGGCATGGTAAGCCCAG	0.453000														46			6		0	0	0.001168	0	0
KDM5A	5927	broad.mit.edu	37	12	459853	459854	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:459853_459854GG>AC	uc001qif.1	-	9	1604_1605	c.1241_1242CC>GT	c.(1240-1242)tcc>tGT	p.S414C	KDM5A_uc010sdn.1_Missense_Mutation_p.S373C|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	414					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGTCTTTTGAGGAGATATCTGC	0.441000			T	NUP98	AML									68			14		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9060909	9060909	+	Missense_Mutation	SNP	G	A	A	rs144604762	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9060909G>A	uc002mkp.3	-	2	26741	c.26537C>T	c.(26536-26538)tCa>tTa	p.S8846L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8848	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTTCCACTGATGGGCGGCT	0.517000														80			18		0	0	0.008871	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352143	15352143	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:15352143C>T	uc002yji.2	-	0		c.623G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		GTACCGGATTCGGTACCCGGA	0.622000														16			4		0	0	0.000248	0	0
RAD54L	8438	broad.mit.edu	37	1	46726410	46726410	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:46726410C>T	uc001cpl.2	+	6	1200	c.489C>T	c.(487-489)ttC>ttT	p.F163F	RAD54L_uc009vye.2_Silent_p.F163F	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	163					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GAGTGAAATTCCTGTGGGAGT	0.562000								Direct reversal of damage;Homologous recombination						37			6		0	0	0.001984	0	0
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:130411013G>A	uc004ewe.4	-	13	2806	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	IGSF1_uc004ewd.3_Silent_p.I836I|IGSF1_uc022cdv.1_Silent_p.I827I|IGSF1_uc004ewf.2_Silent_p.I816I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	836	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498000														97			61		0	0	0.003610	0	0
PWP2	5822	broad.mit.edu	37	21	45548478	45548478	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:45548478C>T	uc002zeb.3	+	19	2646	c.2556C>T	c.(2554-2556)atC>atT	p.I852I		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	852						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		AGAAGAGCATCCAGCGGCACC	0.642000														22			10		0	0	0.002450	0	0
DLGAP3	58512	broad.mit.edu	37	1	35365833	35365833	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:35365833C>T	uc001byc.3	-	1	1149	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	383					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCTCCCCATCCTTGCCACCGG	0.607000														79			18		0	0	0.001523	0	0
AURKB	9212	broad.mit.edu	37	17	8110589	8110589	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:8110589G>A	uc002gkn.3	-	4	367	c.306C>T	c.(304-306)ttC>ttT	p.F102F	AURKB_uc021tpy.1_Intron|AURKB_uc010cnu.3_5'UTR|AURKB_uc002gkm.3_Silent_p.F101F|AURKB_uc010vuu.2_Silent_p.F60F|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	101	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						GCGCCACGATGAAATGGCTTT	0.537000														19			11		0	0	0.008291	0	0
MYO18B	84700	broad.mit.edu	37	22	26219542	26219542	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:26219542G>A	uc003abz.1	+	12	2842	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	MYO18B_uc003aca.1_Silent_p.E745E|MYO18B_uc010guy.1_Silent_p.E745E|MYO18B_uc010guz.1_Silent_p.E745E|MYO18B_uc011aka.1_Silent_p.E18E|MYO18B_uc011akb.1_Silent_p.E377E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	864	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						GCGAGTATGAGGAGCTGAACA	0.572000														100			24		0	0	0.003954	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607295	26607295	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:26607295G>A	uc001blu.3	+	1	522	c.88G>A	c.(88-90)Ggg>Agg	p.G30R		NM_031286	NP_112576	Q9H299	SH3L3_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 3 (SH3BGRL3), mRNA.	30	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|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;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		AATCCTGGATGGGAAGCGCAT	0.592000														34			20		0	0	0.007413	0	0
CHML	1122	broad.mit.edu	37	1	241799053	241799053	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:241799053G>A	uc001hzd.3	-	0	180	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	6					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AACTCTGTGGGAAGATTGTCC	0.433000														55			14		0	0	0.002450	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387672	3387672	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:3387672C>T	uc001qlp.3	+	3	332	c.149C>T	c.(148-150)tCg>tTg	p.S50L	TSPAN9_uc021qtd.1_Missense_Mutation_p.S50L	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			AGCTTCCCTTCGTTGTCTGCA	0.592000														60			16		0	0	0.003163	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105367	60105367	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:60105367G>A	uc001npd.3	+	1	315	c.301G>A	c.(301-303)Gat>Aat	p.D101N		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	101						integral to membrane	receptor activity	p.Y100Y(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403000														57			20		0	0	0.002299	0	0
SLC25A34	284723	broad.mit.edu	37	1	16065802	16065802	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:16065802C>T	uc001axb.1	+	4	988	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	272					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCCTGGGCCCCGCCTACC	0.667000														65			7		0	0	0.003080	0	0
SLC9C1	285335	broad.mit.edu	37	3	111927207	111927207	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:111927207G>A	uc003dyu.3	-	15	2026	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.R554C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	602	Ion transport-like.				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCATATACGAAAAAAGAAG	0.269000														63			10		0	0	0.008291	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515444	140515444	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140515444C>T	uc003liq.3	+	0	645	c.428C>T	c.(427-429)cCa>cTa	p.P143L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	143	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P143Q(2)		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)			CTAAAAATCCCAGAGAGCACC	0.443000														68			17		0	0	0.004990	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994720	45994720	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:45994720C>T	uc002zfk.1	+	0	1115	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	362	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTCCGTGTCCCTCCTCTGC	0.677000														73			26		0	0	0.006320	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	A	A	rs143629932		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:141619380G>A	uc003vwu.1	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000														82			7		0	0	0.006214	0	0
PAPPA	5069	broad.mit.edu	37	9	118949536	118949536	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:118949536C>T	uc004bjn.3	+	1	900	c.519C>T	c.(517-519)tcC>tcT	p.S173S	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	173					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						ACTTTTTCTCCTTGAAGACAG	0.527000														47			9		0	0	0.004482	0	0
S100A9	6280	broad.mit.edu	37	1	153330865	153330865	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:153330865G>A	uc001fbq.3	+	1	149	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	36	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACCAGGGGGAATTCAAAGA	0.517000														32			4		0	0	0.000602	0	0
TOX2	84969	broad.mit.edu	37	20	42694734	42694734	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr20:42694734C>T	uc010ggo.3	+	6	1383	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	TOX2_uc002xle.4_Missense_Mutation_p.P406L|TOX2_uc010ggp.3_Missense_Mutation_p.P406L|TOX2_uc002xlf.4_Missense_Mutation_p.P430L|TOX2_uc010zwk.2_Missense_Mutation_p.P326L	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	430	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCCCTCACCTCCAGGGCCA	0.657000														8			3		0	0	0.004672	0	0
VWCE	220001	broad.mit.edu	37	11	61032491	61032491	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:61032491C>T	uc001nra.3	-	17	2355	c.2076G>A	c.(2074-2076)agG>agA	p.R692R	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	692	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCGCCACCTTCCTTCCCTCGT	0.662000														51			9		0	0	0.006214	0	0
BCAT1	586	broad.mit.edu	37	12	25002810	25002810	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:25002810G>A	uc001rgd.4	-	5	1111	c.584C>T	c.(583-585)tCa>tTa	p.S195L	BCAT1_uc001rgc.3_Missense_Mutation_p.S194L|BCAT1_uc010six.2_Missense_Mutation_p.S207L|BCAT1_uc010siy.2_Missense_Mutation_p.S158L|BCAT1_uc001rge.4_Missense_Mutation_p.S134L	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	195					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GGTTCCACTTGAAAAATAAGG	0.473000														63			16		0	0	0.004007	0	0
ABCC9	10060	broad.mit.edu	37	12	21995340	21995340	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:21995340C>T	uc001rfh.3	-	26	3401	c.3381G>A	c.(3379-3381)atG>atA	p.M1127I	ABCC9_uc001rfi.1_Missense_Mutation_p.M1127I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1127	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATAAGAAATCATCCCAATGG	0.433000														42			6		0	0	0.004482	0	0
CABP4	57010	broad.mit.edu	37	11	67223027	67223027	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:67223027G>A	uc001olo.3	+	0	210	c.133G>A	c.(133-135)Gag>Aag	p.E45K	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	45					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GAGCAAGAAGGAGAGGGGGCT	0.647000														12			7		0	0	0.003080	0	0
ELL	8178	broad.mit.edu	37	19	18557592	18557592	+	Missense_Mutation	SNP	G	A	A	rs151228060	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:18557592G>A	uc002njh.3	-	8	1570	c.1498C>T	c.(1498-1500)Ccc>Tcc	p.P500S	ELL_uc010ebq.3_Missense_Mutation_p.P443S|ELL_uc002njg.3_Missense_Mutation_p.P367S	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	500					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GTGGACGTGGGAACACTGGAA	0.607000			T	MLL	AL									25			8		0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:13841988G>A	uc003jfd.2	-	32	5339	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1766	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)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome					45			7		0	0	0.001984	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22769	22769	+	RNA	SNP	A	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrGL000241.1:22769A>G	uc011mgv.2	-	5		c.651T>C								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TCTTGGTCCAATTGCATCTGA	0.333000														75			5		0	0	0.001168	0	0
NIN	51199	broad.mit.edu	37	14	51238084	51238084	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:51238084G>A	uc001wyi.3	-	9	1275	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.L362L|NIN_uc001wyk.3_Silent_p.L362L|NIN_uc001wyo.3_Silent_p.L362L|NIN_uc001wyp.1_Silent_p.L324L	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	362					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)					AAGCTGGCCAGAGCCGCCTGG	0.473000			T	PDGFRB	MPD									21			11		0	0	0.008291	0	0
WNT9A	7483	broad.mit.edu	37	1	228109609	228109609	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:228109609G>A	uc001hri.2	-	3	796	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	236					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CCACCTCATGGAAAGGCGCCA	0.627000														59			18		0	0	0.001523	0	0
ICAM4	3386	broad.mit.edu	37	19	10397740	10397740	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:10397740C>T	uc002mnr.2	+	0	98	c.52C>T	c.(52-54)Ccg>Tcg	p.P18S	ICAM4_uc002mns.2_Missense_Mutation_p.P18S|ICAM4_uc002mnt.2_Missense_Mutation_p.P18S|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	18				AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537).	cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGCCGCCTACCCGGGAGTTGG	0.687000														14			3		0	0	0.000248	0	0
MPO	4353	broad.mit.edu	37	17	56351017	56351017	+	Missense_Mutation	SNP	C	T	T	rs149133270	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:56351017C>T	uc002ivu.1	-	8	1556	c.1379G>A	c.(1378-1380)cGg>cAg	p.R460Q		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	460					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CAGGTAGTCCCGGTAAGTGAT	0.587000														83			11		0	0	0.000978	0	0
H6PD	9563	broad.mit.edu	37	1	9324120	9324120	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:9324120C>T	uc001apt.3	+	4	1841	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	523	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTGTTCTTTTCCCAGCAGCAG	0.642000														91			14		0	0	0.003163	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138058	72138058	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72138058C>T	uc001xms.3	+	7	2839	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	SIPA1L1_uc001xmt.3_Silent_p.I826I|SIPA1L1_uc001xmu.3_Silent_p.I826I|SIPA1L1_uc001xmv.3_Silent_p.I826I|SIPA1L1_uc010ttm.2_Silent_p.I301I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	826	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACACCCCTATCGACCCTTCTG	0.517000														40			12		0	0	0.001855	0	0
ZNF418	147686	broad.mit.edu	37	19	58438057	58438057	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:58438057G>A	uc002qqs.1	-	3	1784	c.1492C>T	c.(1492-1494)Cgt>Tgt	p.R498C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Missense_Mutation_p.R413C	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGATGAACACGAAACCCAGAG	0.458000														77			19		0	0	0.001523	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242939	21242939	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:21242939G>A	uc010sil.2	+	15	2211	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	SLCO1B3_uc010sim.2_Missense_Mutation_p.D655N|SLCO1B3_uc010sin.2_Missense_Mutation_p.D608N			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	655					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	p.D608Y(1)		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)					CCATGGAAAGGATACCAAAGT	0.343000														21			7		0	0	0.001984	0	0
CD1A	909	broad.mit.edu	37	1	158225065	158225065	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:158225065G>A	uc001frt.3	+	1	783	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	84					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAGGAACTGGAAACATTATT	0.468000														45			9		0	0	0.006214	0	0
KIAA1217	56243	broad.mit.edu	37	10	24834786	24834786	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:24834786G>A	uc001iru.4	+	20	5768	c.5365G>A	c.(5365-5367)Gac>Aac	p.D1789N	KIAA1217_uc001irs.3_Missense_Mutation_p.D1110N|KIAA1217_uc001irt.4_Missense_Mutation_p.D1155N|KIAA1217_uc010qcy.2_Missense_Mutation_p.D1220N|KIAA1217_uc010qcz.2_Missense_Mutation_p.D1195N|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1789					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATCTGGTGGGGACTTTAAGCC	0.507000														80			16		0	0	0.007413	0	0
MYH4	4622	broad.mit.edu	37	17	10358064	10358064	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:10358064C>T	uc002gmn.3	-	21	2610	c.2499G>A	c.(2497-2499)tgG>tgA	p.W833*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	833					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						ACAGCTTCATCCAGGGCCAGT	0.428000														66			13		0	0	0.001855	0	0
ASTN1	460	broad.mit.edu	37	1	176915160	176915160	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:176915160C>T	uc001glc.3	-	12	2363	c.2151G>A	c.(2149-2151)gaG>gaA	p.E717E	ASTN1_uc001glb.1_Silent_p.E717E|ASTN1_uc001gld.1_Silent_p.E717E|ASTN1_uc009wwx.1_Silent_p.E717E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	725					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCATGGGAAGCTCCCTGCTTT	0.532000														71			23		0	0	0.002299	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777753	43777753	+	Nonsense_Mutation	SNP	G	A	A	rs144064003	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:43777753G>A	uc010skx.2	-	29	4480	c.4480C>T	c.(4480-4482)Cag>Tag	p.Q1494*		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1494	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCCCTCTGCTGAACTCCAGAG	0.448000														28			7		0	0	0.003080	0	0
OR2A5	393046	broad.mit.edu	37	7	143747706	143747706	+	Missense_Mutation	SNP	C	T	T	rs149614119	by1000genomes	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143747706C>T	uc011ktw.2	+	0	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S71L(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATTGATATTTCGTATGCTTCC	0.483000														63			15		0	0	0.002450	0	0
LIPG	9388	broad.mit.edu	37	18	47108848	47108848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr18:47108848G>A	uc002ldv.3	+	6	1405	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	LIPG_uc010xdh.2_Missense_Mutation_p.E311K	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	385	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCTGCCACTGGAAATGTAAGT	0.483000														38			16		0	0	0.004990	0	0
DOT1L	84444	broad.mit.edu	37	19	2199905	2199905	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:2199905C>T	uc002lvb.4	+	7	710	c.674C>T	c.(673-675)tCa>tTa	p.S225L		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	225						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GATTTCCTCTCAGAAGAGTGG	0.647000														33			10		0	0	0.008291	0	0
DNAH5	1767	broad.mit.edu	37	5	13751285	13751285	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:13751285G>A	uc003jfd.2	-	64	11155	c.11113C>T	c.(11113-11115)Cct>Tct	p.P3705S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3705	AAA 5 (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)					CTTATCTCAGGGGTGTAGGCT	0.443000									Kartagener syndrome					51			14		0	0	0.001855	0	0
KRT1	3848	broad.mit.edu	37	12	53069058	53069058	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:53069058G>A	uc001sau.1	-	8	1913	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	KRT1_uc001sav.1_Silent_p.S611S	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	618	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCCCAGAGCTGGATCCCCGGC	0.627000														59			17		0	0	0.006122	0	0
FFAR2	2867	broad.mit.edu	37	19	35940955	35940955	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:35940955C>T	uc002nzg.2	+	1	419	c.339C>T	c.(337-339)ttC>ttT	p.F113F	FFAR2_uc010eea.3_Silent_p.F113F	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	113						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.A112>?(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			GAGTGGCTTTCCCCGTGCAGT	0.592000														31			6		0	0	0.001168	0	0
RARG	5916	broad.mit.edu	37	12	53608014	53608014	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:53608014G>A	uc001scf.3	-	6	1134	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RARG_uc001scd.3_Silent_p.S203S|RARG_uc010sob.2_Silent_p.S192S|RARG_uc001scg.3_Silent_p.S142S|RARG_uc010soc.2_Silent_p.S93S|RARG_uc001sce.3_Silent_p.S214S|RARG_uc010sod.2_Silent_p.S251S	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	214	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCTGCACTGGAGTTCTGCA	0.572000														51			5		0	0	0.000602	0	0
LNP1	348801	broad.mit.edu	37	3	100174744	100174744	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:100174744C>T	uc003dtx.4	+	3	1791	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	171								p.A170S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						ACACATGGCTCCCCTGTTTGA	0.423000														59			8		0	0	0.004482	0	0
UNC13C	440279	broad.mit.edu	37	15	54542546	54542546	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:54542546C>T	uc021smr.1	+	5	3346	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	UNC13C_uc021sms.1_Silent_p.L1118L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1118					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGAAGGGCTCCTGTGGGGCAT	0.517000														45			12		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188633	140188633	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:140188633C>T	uc003lhi.2	+	0	1962	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.P621S|PCDHAC2_uc011daa.2_Missense_Mutation_p.P621S	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	632	Cadherin 6.				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)			CGCGCGCATCCCGTTCCGCGT	0.672000														50			13		0	0	0.001855	0	0
XDH	7498	broad.mit.edu	37	2	31599949	31599949	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:31599949G>A	uc002rnv.1	-	13	1476	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	466					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)	GGTCTTGAGGGCTGAGATGGT	0.473000														93			27		0	0	0.002096	0	0
NLRP1	22861	broad.mit.edu	37	17	5461840	5461840	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:5461840G>A	uc002gci.3	-	3	2731	c.2176C>T	c.(2176-2178)Cgg>Tgg	p.R726W	NLRP1_uc002gcg.1_Missense_Mutation_p.R726W|NLRP1_uc002gch.4_Missense_Mutation_p.R726W|NLRP1_uc002gck.3_Missense_Mutation_p.R726W|NLRP1_uc002gcj.3_Missense_Mutation_p.R726W|NLRP1_uc002gcl.3_Missense_Mutation_p.R726W|NLRP1_uc010clh.3_Missense_Mutation_p.R726W	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	726					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTTTGTTCCGAGTCTCGTAC	0.537000														54			13		0	0	0.001368	0	0
TECTA	7007	broad.mit.edu	37	11	120984327	120984327	+	Silent	SNP	C	T	T	rs34605023	byFrequency	TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:120984327C>T	uc010rzo.2	+	4	690	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	230	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCCCGAGATCGTGAATATCC	0.493000														23			15		0	0	0.003163	0	0
ROR2	4920	broad.mit.edu	37	9	94538041	94538041	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr9:94538041G>A	uc004arj.2	-	1	356	c.157C>T	c.(157-159)Ccg>Tcg	p.P53S	ROR2_uc004ari.1_5'UTR|ROR2_uc004ark.3_Missense_Mutation_p.P53S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	53					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTGGAATCGGGCCGTCCTGC	0.527000											OREG0019308	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			6		0	0	0.001168	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471599	20471599	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:20471599G>A	uc010bwe.3	+	2	402	c.163G>A	c.(163-165)Gct>Act	p.A55T	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Missense_Mutation_p.A55T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A55T|ACSM2A_uc010vay.2_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	55					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.W54C(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGATCACTGGGCTGACATGGA	0.428000														15			7		0	0	0.003080	0	0
ANK1	286	broad.mit.edu	37	8	41573301	41573301	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr8:41573301C>T	uc003xok.3	-	13	1555	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.E491K|ANK1_uc003xoj.3_Missense_Mutation_p.E491K|ANK1_uc003xol.3_Missense_Mutation_p.E491K|ANK1_uc003xom.3_Missense_Mutation_p.E524K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	491	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTTATTTTCCAGCAGGAGC	0.587000														101			11		0	0	0.002450	0	0
MARCO	8685	broad.mit.edu	37	2	119727733	119727733	+	Silent	SNP	C	T	T	rs75633112		TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:119727733C>T	uc002tln.1	+	2	375	c.243C>T	c.(241-243)ttC>ttT	p.F81F	MARCO_uc010yyf.1_Silent_p.F3F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	81					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGATGTATTTCCTCAATGACA	0.582000														38			25		0	0	0.005443	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798066	55798066	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:55798066C>T	uc010riw.2	+	0	172	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTTCAAATTCCCATGTATTA	0.338000														33			6		0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3242438	3242438	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:3242438C>T	uc004crg.4	-	4	1445	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	430						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATGACCCATTCTGGTTCTGCA	0.498000														40			23		0	0	0.003954	0	0
RGS6	9628	broad.mit.edu	37	14	72818858	72818858	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:72818858G>A	uc001xna.4	+	2	663	c.140G>A	c.(139-141)aGa>aAa	p.R47K	RGS6_uc021rvv.1_Missense_Mutation_p.R12K|RGS6_uc010ttn.2_Missense_Mutation_p.R47K|RGS6_uc021rvw.1_Missense_Mutation_p.R47K|RGS6_uc021rvx.1_Missense_Mutation_p.R47K|RGS6_uc021rvy.1_Missense_Mutation_p.R47K|RGS6_uc021rvz.1_Missense_Mutation_p.R47K|RGS6_uc001xmy.4_Missense_Mutation_p.R47K|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R47K|RGS6_uc021rwa.1_Missense_Mutation_p.R47K|RGS6_uc021rwb.1_Missense_Mutation_p.R47K	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	47	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGCCCATCAGAACAGTCAAG	0.418000														25			4		0	0	0.001168	0	0
ANKRD2	26287	broad.mit.edu	37	10	99332524	99332524	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:99332524C>T	uc001knw.3	+	0	269	c.60C>T	c.(58-60)gcC>gcT	p.A20A	ANKRD2_uc009xvu.3_Silent_p.A20A	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	20					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCCCCGAGGCCCTGTGGCCTG	0.672000											OREG0020418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			5		0	0	0.000602	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510220	41510220	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:41510220G>A	uc002opr.1	+	2	360	c.353G>A	c.(352-354)gGa>gAa	p.G118E	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.G78E	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	118					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTTGCCAATGGAAACCGCTGG	0.552000														22			9		0	0	0.006214	0	0
C1orf173	127254	broad.mit.edu	37	1	75038211	75038211	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:75038211C>T	uc001dgg.3	-	13	3402	c.3183G>A	c.(3181-3183)agG>agA	p.R1061R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1061	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCAGCTTTCCTTCGCTCTC	0.428000														105			37		0	0	0.003755	0	0
CWH43	80157	broad.mit.edu	37	4	48990598	48990598	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:48990598C>T	uc003gyv.3	+	1	330	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	CWH43_uc011bzl.2_Missense_Mutation_p.L23F	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	50					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TATAGCATTTCTTTCTCCAAT	0.378000														38			8		0	0	0.003080	0	0
PDE6C	5146	broad.mit.edu	37	10	95399866	95399866	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:95399866G>A	uc001kiu.4	+	11	1660	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	508					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.E508K(2)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGAACTGTACGAATTCCGCTT	0.423000														55			18		0	0	0.008871	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572122	76572122	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:76572122G>A	uc002fex.1	+	17	3253	c.3114G>A	c.(3112-3114)atG>atA	p.M1038I	CNTNAP4_uc002feu.1_Missense_Mutation_p.M1034I|CNTNAP4_uc002fev.1_Missense_Mutation_p.M899I|CNTNAP4_uc010chb.1_Missense_Mutation_p.M962I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1035					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						ATGGTGATATGAAGCTGAGCA	0.373000														61			10		0	0	0.001368	0	0
CNR2	1269	broad.mit.edu	37	1	24201331	24201331	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:24201331G>A	uc021oij.1	-	0	777	c.777C>T	c.(775-777)ttC>ttT	p.F259F	CNR2_uc001bif.3_Silent_p.F259F	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	259					G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CCAGCACTGGGAACCAACAGA	0.587000														25			5		0	0	0.000602	0	0
PRKCDBP	112464	broad.mit.edu	37	11	6340713	6340713	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:6340713C>T	uc001mcu.1	-	1	500	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	Homo sapiens protein kinase C, delta binding protein (PRKCDBP), mRNA.	156										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCCAGCTGCTCTGGGCCCAGC	0.672000														11			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9085554	9085554	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9085554C>T	uc002mkp.3	-	0	6465	c.6261G>A	c.(6259-6261)acG>acA	p.T2087T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2087	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAATTCAGTCGTAGTTGAAC	0.478000														147			43		0	0	0.008740	0	0
ANO4	121601	broad.mit.edu	37	12	101336293	101336293	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:101336293G>A	uc010svm.1	+	4	1008	c.436G>A	c.(436-438)Gga>Aga	p.G146R	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.G111R|ANO4_uc001thx.2_Missense_Mutation_p.G146R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	146						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAGAGCAGAAGGATTGCAAAT	0.353000										HNSCC(74;0.22)				63			21		0	0	0.001882	0	0
IFRD2	7866	broad.mit.edu	37	3	50326035	50326035	+	Silent	SNP	C	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:50326035C>A	uc003czb.3	-	12	1629	c.1629G>T	c.(1627-1629)tcG>tcT	p.S543S	IFRD2_uc011bdp.2_Silent_p.S441S	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	441							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGTGCATGCCCGAACCCAGCA	0.612000														19			3		0.000602214	0.000784133	0.000602	1	0
PDE1C	5137	broad.mit.edu	37	7	32109934	32109934	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:32109934G>A	uc003tcm.2	-	0	533	c.72C>T	c.(70-72)atC>atT	p.I24I	PDE1C_uc003tcn.1_Silent_p.I24I|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Silent_p.I24I|PDE1C_uc003tcs.3_Silent_p.I24I	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	24					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)			AGATTTTCTCGATCTGTTCCG	0.512000														74			9		0	0	0.008291	0	0
GCKR	2646	broad.mit.edu	37	2	27746184	27746184	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:27746184G>A	uc002rky.3	+	18	1822	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	GCKR_uc010ezd.3_Missense_Mutation_p.E584K|GCKR_uc010ylu.2_Missense_Mutation_p.E396K	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	586					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTCGATCACTGAGGCTCAGGC	0.602000														21			6		0	0	0.001168	0	0
C19orf21	126353	broad.mit.edu	37	19	760010	760010	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:760010C>T	uc002lpo.3	+	2	1965	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	628										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)		GGACAGTGCTCCTCCCGGGCA	0.577000														26			9		0	0	0.008291	0	0
LOC440518	440518	broad.mit.edu	37	19	22785479	22785479	+	RNA	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:22785479C>T	uc002nqu.4	+	7		c.1568C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		ATCGCTGCATCCAGCTCTCTG	0.602000														53			15		0	0	0.003163	0	0
GABRA6	2559	broad.mit.edu	37	5	161119029	161119029	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:161119029G>A	uc003lyu.2	+	7	1247	c.909G>A	c.(907-909)atG>atA	p.M303I	GABRA6_uc003lyv.2_Missense_Mutation_p.M74I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	303					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACTGCCATGGATTGGTTCA	0.428000										TCGA Ovarian(5;0.080)				46			14		0	0	0.001855	0	0
ASPM	259266	broad.mit.edu	37	1	197073833	197073833	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:197073833G>A	uc001gtu.3	-	17	4805	c.4548C>T	c.(4546-4548)acC>acT	p.T1516T	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1516					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTTCTGGATGGTTAGTATGG	0.348000														66			10		0	0	0.001855	0	0
ODZ1	10178	broad.mit.edu	37	X	124029836	124029836	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:124029836C>T	uc010nqy.3	-	1	536	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	ODZ1_uc011muj.2_Missense_Mutation_p.E158K|ODZ1_uc004euj.3_Missense_Mutation_p.E158K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	158	Teneurin N-terminal.				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						TTACCATTTTCCCCATCAGAC	0.408000														41			19		0	0	0.007413	0	0
MPP7	143098	broad.mit.edu	37	10	28408587	28408587	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:28408587C>T	uc001iua.1	-	12	1349	c.945G>A	c.(943-945)agG>agA	p.R315R	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.R315R|MPP7_uc009xla.2_Silent_p.R315R|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	315					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TACATGATTTCCTGTTGGAAA	0.398000														88			24		0	0	0.007291	0	0
LUZP2	338645	broad.mit.edu	37	11	24998158	24998158	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:24998158G>A	uc001mqs.3	+	7	818	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	LUZP2_uc009yif.3_Missense_Mutation_p.E96K|LUZP2_uc009yig.3_Missense_Mutation_p.E140K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	182	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACTGATCTGGAACAAAAATT	0.358000														20			10		0	0	0.001855	0	0
LRP4	4038	broad.mit.edu	37	11	46900680	46900681	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr11:46900680_46900681GG>AA	uc001ndn.4	-	20	3243_3244	c.3000_3001CC>TT	c.(2998-3003)ccccca>ccTTca	p.P1001S		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1001					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)		TGCTCACCTGGGGGCCGGCGGC	0.614000														146			19		0	0	0.004672	0	0
C15orf60	283677	broad.mit.edu	37	15	73852092	73852092	+	Splice_Site	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr15:73852092G>A	uc002avq.3	+	6	665	c.637_splice	c.e6-1	p.T213_splice	C15orf60_uc010bjb.3_Splice_Site_p.T185_splice	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	213										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TATCCCTGCAGACTCTTCTGG	0.453000														53			11		0	0	0.001368	0	0
SCN7A	6332	broad.mit.edu	37	2	167297944	167297944	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:167297944G>A	uc002udu.2	-	13	2249	c.2119C>T	c.(2119-2121)Cct>Tct	p.P707S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	707					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTAAAAAGGAATACACCAG	0.393000														12			10		0	0	0.000978	0	0
CYP2C8	1558	broad.mit.edu	37	10	96829107	96829107	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:96829107G>A	uc001kkb.3	-	0	148	c.53C>T	c.(52-54)tCa>tTa	p.S18L	CYP2C8_uc010qoa.2_5'UTR|CYP2C8_uc010qoc.2_5'UTR|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_5'UTR|CYP2C8_uc021pwl.1_5'UTR|CYP2C8_uc010qod.1_5'UTR	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	18					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TCTCCAGAGTGAAAAGAGAAG	0.458000														42			6		0	0	0.001168	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368178	111368179	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr6:111368178_111368179CC>TT	uc003puq.3	-	0	579_580	c.444_445GG>AA	c.(442-447)aaggac>aaAAac	p.D149N						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		GAGATGAAGTCCTTCAGGTTTG	0.500000														24			10		0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9072272	9072273	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:9072272_9072273GG>AA	uc002mkp.3	-	2	15377_15378	c.15173_15174CC>TT	c.(15172-15174)acc>aTT	p.T5058I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5060	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						CCTCTGGTAAGGTAGAAGAAAT	0.480000														58			12		0	0	0.004672	0	0
VWA3B	200403	broad.mit.edu	37	2	98851193	98851193	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:98851193C>T	uc002syo.3	+	16	2655	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Silent_p.S316S|VWA3B_uc002sym.3_Silent_p.S797S|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.S454S|VWA3B_uc002syp.1_Silent_p.S189S|VWA3B_uc002syq.1_Silent_p.S73S|VWA3B_uc002syr.1_Silent_p.S114S|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	797										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATGGCCTCTCCAATGCCAGCA	0.532000														40			8		0	0	0.003080	0	0
PLK1	5347	broad.mit.edu	37	16	23700596	23700596	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:23700596C>T	uc002dlz.1	+	7	1361	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	436	POLO box 1.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GGGTGCTCTTCAATGACTCAA	0.557000														54			11		0	0	0.001368	0	0
CCDC147	159686	broad.mit.edu	37	10	106152024	106152024	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:106152024G>A	uc001kyh.3	+	9	1533	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	467										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAAAGTTCGTGAAACACAGAT	0.353000														74			26		0	0	0.004656	0	0
RELN	5649	broad.mit.edu	37	7	103202352	103202352	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:103202352C>T	uc022ajr.1	-	34	5419	c.5259G>A	c.(5257-5259)ggG>ggA	p.G1753G	RELN_uc022ajq.1_Silent_p.G1753G|RELN_uc010liz.3_Silent_p.G1753G	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1753					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGAATCAGCCCCCACAGTGT	0.478000														18			5		0	0	0.001168	0	0
HYDIN	54768	broad.mit.edu	37	16	71007790	71007790	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:71007790G>A	uc002ezr.3	-	33	5319	c.5168C>T	c.(5167-5169)tCc>tTc	p.S1723F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1724										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGATGATTGGAAAGCTGAAT	0.493000														81			9		0	0	0.006214	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656192	46656192	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr22:46656192T>G	uc003bhh.3	-	0	3028	c.3028A>C	c.(3028-3030)Aca>Cca	p.T1010P		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1010					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ACCAACACTGTGAACAGCACC	0.537000														96			20		0	0	0.001523	0	0
CREBBP	1387	broad.mit.edu	37	16	3808895	3808895	+	Missense_Mutation	SNP	G	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr16:3808895G>C	uc002cvv.3	-	16	3533	c.3329C>G	c.(3328-3330)cCt>cGt	p.P1110R	CREBBP_uc002cvw.3_Missense_Mutation_p.P1072R	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1110	Bromo.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGCCGGAAAGGTAATGACTC	0.453000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							44			15		0	0	0.002450	0	0
PCLO	27445	broad.mit.edu	37	7	82538321	82538321	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:82538321G>A	uc003uhx.2	-	7	13598	c.13309C>T	c.(13309-13311)Ctg>Ttg	p.L4437L	PCLO_uc003uhv.2_Silent_p.L4437L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4368	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.H4436R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCACGACGCAGATGATAGGCT	0.458000														34			6		0	0	0.001168	0	0
A4GNT	51146	broad.mit.edu	37	3	137843166	137843166	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:137843166C>T	uc003ers.2	-	2	1165	c.963G>A	c.(961-963)agG>agA	p.R321R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA.	321					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TAATCAGGTCCCTGTAAGTCC	0.517000														326			99		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107083558	107083558	+	Splice_Site	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr14:107083558C>T	uc021ser.1	-	131		c.5613_splice	c.e131-1							Parts of antibodies, mostly variable regions.																		GACAGGACCCCTGTGAACAGA	0.612000														39			6		0	0	0.008291	0	0
STYK1	55359	broad.mit.edu	37	12	10772807	10772807	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr12:10772807T>C	uc001qys.2	-	10	1726	c.1205A>G	c.(1204-1206)gAa>gGa	p.E402G		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	402						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGCATACAGTTCAGGTACCAC	0.507000										HNSCC(73;0.22)				155			39		0	0	0.008740	0	0
ADCY5	111	broad.mit.edu	37	3	123009975	123009975	+	Silent	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:123009975G>A	uc003egh.2	-	17	3312	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	ADCY5_uc021xdd.1_Silent_p.I754I|ADCY5_uc003egg.2_Silent_p.I762I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1104	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAAGTCAGCGATGATCTCAT	0.592000														18			5		0	0	0.000602	0	0
FBXO39	162517	broad.mit.edu	37	17	6683581	6683581	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:6683581C>T	uc010vtg.2	+	1	514	c.394C>T	c.(394-396)Caa>Taa	p.Q132*		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	132										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTTTCCATCCAATACCTGGA	0.502000														45			8		0	0	0.003080	0	0
SPEN	23013	broad.mit.edu	37	1	16257865	16257865	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:16257865A>C	uc001axk.1	+	10	5334	c.5130A>C	c.(5128-5130)aaA>aaC	p.K1710N	SPEN_uc010obp.1_Missense_Mutation_p.K1669N	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1710					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			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)		ACCCCGATAAAGAAGCTGCCA	0.582000														124			35		0	0	0.002445	0	0
CSMD2	114784	broad.mit.edu	37	1	34049314	34049314	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:34049314C>T	uc001bxm.1	-	46	7345	c.7168G>A	c.(7168-7170)Gac>Aac	p.D2390N	CSMD2_uc001bxn.1_Missense_Mutation_p.D2392N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2392	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)				ATGTTATAGTCGGGCTCCACT	0.502000														78			28		0	0	0.005443	0	0
KLKB1	3818	broad.mit.edu	37	4	187158021	187158021	+	Missense_Mutation	SNP	A	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:187158021A>C	uc003iyy.3	+	4	486	c.415A>C	c.(415-417)Aaa>Caa	p.K139Q	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.K101Q	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	139	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		AGAATGCCAAAAAAGGTGCAC	0.398000														49			16		0	0	0.004990	0	0
PSG9	5678	broad.mit.edu	37	19	43762435	43762435	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr19:43762435G>A	uc002owd.4	-	4	1261	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y	PSG9_uc002owe.4_Missense_Mutation_p.H295Y|PSG9_uc010xwm.2_Missense_Mutation_p.H295Y|PSG9_uc002owf.4_Missense_Mutation_p.H202Y|PSG9_uc002owg.2_Missense_Mutation_p.H295Y	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	388	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGCCCGCTATGATTTCTAGTA	0.443000														49			37		0	0	0.006230	0	0
C7	730	broad.mit.edu	37	5	40945458	40945458	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:40945458C>T	uc003jmh.3	+	6	840	c.726C>T	c.(724-726)atC>atT	p.I242I	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	242	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CCAATGAAATCCATAAAGGAA	0.318000														17			3		0	0	0.000248	0	0
PCDH9	5101	broad.mit.edu	37	13	67801345	67801345	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr13:67801345G>A	uc001vik.3	-	1	1920	c.1228C>T	c.(1228-1230)Cat>Tat	p.H410Y	PCDH9_uc001vil.3_Missense_Mutation_p.H410Y|PCDH9_uc010thl.2_Missense_Mutation_p.H410Y|PCDH9_uc001vin.3_Missense_Mutation_p.H410Y	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	410	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GCCTTCAAATGAAATGGGACC	0.378000														29			8		0	0	0.004482	0	0
OR2A25	392138	broad.mit.edu	37	7	143771818	143771818	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr7:143771818G>A	uc011ktx.2	+	0	506	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	169					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)					TCCTTCTGTGGACCCCAGAAA	0.448000														125			25		0	0	0.006320	0	0
OR14C36	127066	broad.mit.edu	37	1	248512160	248512160	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:248512160C>T	uc010pzl.2	+	0	84	c.84C>T	c.(82-84)tcC>tcT	p.S28S		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTCTGCATCCTTCTTTATGT	0.443000														74			23		0	0	0.002299	0	0
DRD5	1816	broad.mit.edu	37	4	9784903	9784903	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:9784903C>T	uc003gmb.4	+	0	1646	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	417					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A417T(2)|p.N416N(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATGCCCAACGCCGTTACCCCC	0.552000														38			5		0	0	0.001168	0	0
UNK	85451	broad.mit.edu	37	17	73818610	73818610	+	Silent	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr17:73818610C>T	uc002jpm.3	+	14	2118	c.2118C>T	c.(2116-2118)ttC>ttT	p.F706F	UNK_uc021udd.1_Silent_p.F630F	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	630							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGAAGCTTCTCCCCGGGCA	0.612000														90			18		0	0	0.001882	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382492	41382492	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr5:41382492T>C	uc003jmm.1	-	1	350	c.248A>G	c.(247-249)aAt>aGt	p.N83S		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	83	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCAGTAAAATTCATTGTCTG	0.453000														48			8		0	0	0.006214	0	0
CHAT	1103	broad.mit.edu	37	10	50833529	50833529	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr10:50833529C>T	uc001jhz.2	+	5	916	c.763C>T	c.(763-765)Ccc>Tcc	p.P255S	CHAT_uc001jhv.1_Missense_Mutation_p.P137S|CHAT_uc001jhx.1_Missense_Mutation_p.P137S|CHAT_uc001jhy.1_Missense_Mutation_p.P137S|CHAT_uc001jia.2_Missense_Mutation_p.P173S|CHAT_uc010qgs.1_Missense_Mutation_p.P137S	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	255					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCACTCCATTCCCACTGACTG	0.572000														22			7		0	0	0.004482	0	0
SLIT2	9353	broad.mit.edu	37	4	20512738	20512738	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr4:20512738G>A	uc003gpr.1	+	10	1240	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	SLIT2_uc003gps.1_Missense_Mutation_p.G346R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	346					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGCTTTCCAAGGACTACGCTC	0.383000														29			13		0	0	0.004007	0	0
TFAP2E	339488	broad.mit.edu	37	1	36060083	36060083	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:36060083G>A	uc010ohy.2	+	6	1343	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I	PSMB2_uc001bzd.2_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	379	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGAGCCCGGAGTACAGAGCTG	0.587000														49			6		0	0	0.001168	0	0
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	A	A			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr1:110906426_110906427insA	uc001dzo.2	-	8	1675_1676	c.1425_1426insT	c.(1423-1428)tttgtafs	p.F475fs	SLC16A4_uc009wfs.2_Frame_Shift_Ins_p.F427fs|SLC16A4_uc001dzp.2_Frame_Shift_Ins_p.F307fs|SLC16A4_uc010ovy.2_Frame_Shift_Ins_p.F413fs|SLC16A4_uc010ovz.2_Frame_Shift_Ins_p.L372fs|SLC16A4_uc001dzq.2_Frame_Shift_Ins_p.F245fs	NM_004696	NP_004687	O15374	MOT5_HUMAN	Homo sapiens solute carrier family 16, member 4 (monocarboxylic acid transporter 5) (SLC16A4), transcript variant 1, mRNA.	475						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.F475fs*12(2)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391													---	40	---	---	7	---					
ALS2CR11	151254	broad.mit.edu	37	2	202430447	202430450	+	Splice_Site	DEL	TTTA	-	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr2:202430447_202430450delTTTA	uc002uyf.3	-	9	1029	c.977_splice	c.e9+1	p.R326_splice	ALS2CR11_uc002uye.3_Splice_Site_p.R326_splice|ALS2CR11_uc010fti.3_Splice_Site_p.R326_splice|ALS2CR11_uc021vvc.1_Splice_Site_p.R326_splice	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	326								p.?(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						tttttttttttttACCTTTCCCGG	0.368													---	4	---	---	2	---					
EIF4G1	1981	broad.mit.edu	37	3	184040958	184040959	+	Frame_Shift_Ins	INS	-	T	T			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr3:184040958_184040959insT	uc003fnp.3	+	13	2288_2289	c.2017_2018insT	c.(2017-2019)cttfs	p.L673fs	EIF4G1_uc003fno.2_Frame_Shift_Ins_p.L614fs|EIF4G1_uc010hxw.2_Frame_Shift_Ins_p.L509fs|EIF4G1_uc010hxx.3_Frame_Shift_Ins_p.L680fs|EIF4G1_uc003fnt.3_Frame_Shift_Ins_p.L384fs|EIF4G1_uc010hxy.3_Frame_Shift_Ins_p.L680fs|EIF4G1_uc003fnq.3_Frame_Shift_Ins_p.L586fs|EIF4G1_uc003fnr.3_Frame_Shift_Ins_p.L509fs|EIF4G1_uc003fns.3_Frame_Shift_Ins_p.L633fs|EIF4G1_uc003fnv.4_Frame_Shift_Ins_p.L673fs|EIF4G1_uc003fnw.3_Frame_Shift_Ins_p.L680fs|EIF4G1_uc003fnx.3_Frame_Shift_Ins_p.L477fs|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	673	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTTTGCCAACCTTGGCCGGACA	0.614													---	109	---	---	36	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	375	---	---	7	---					
PSMD10	5716	broad.mit.edu	37	X	107331269	107331269	+	Frame_Shift_Del	DEL	G	-	-			TCGA-D3-A2J7-06A-11D-A196-08	TCGA-D3-A2J7-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6f33a5e-136c-44c1-9040-20b53dd002e1	b115478c-52a9-47f1-9fbc-89d234525e73	g.chrX:107331269delG	uc004enp.2	-	2	398	c.274delC	c.(274-276)cttfs	p.L92fs	PSMD10_uc004enq.2_Frame_Shift_Del_p.L92fs|PSMD10_uc010nph.2_Intron	NM_002814	NP_002805	O75832	PSD10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 (PSMD10), transcript variant 1, mRNA.	92	Interaction with RELA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|mRNA metabolic process|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						TTTCCCAGAAGGGCTTTTACA	0.453													---	45	---	---	34	---