Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CSNK2A2	1459	broad.mit.edu	37	16	58220662	58220662	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:58220662G>T	uc002enc.3	-	2	457	c.315C>A	c.(313-315)ccC>ccA	p.P105P		NM_001896	NP_001887	P19784	CSK22_HUMAN	Homo sapiens casein kinase 2, alpha prime polypeptide (CSNK2A2), mRNA.	105	Protein kinase.				Wnt receptor signaling pathway|axon guidance	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						CACCTACCACGGGGTCCTTTA	0.448000													5	93					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	74015470	74015470	+	Missense_Mutation	SNP	C	C	A	rs143878229	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:74015470C>A	uc003uaq.3	+	25	3167	c.2774C>A	c.(2773-2775)cCg>cAg	p.P925Q	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.P942Q|GTF2IRD1_uc003uap.3_Missense_Mutation_p.P910Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.P910Q	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	925	Ser-rich.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						tcctcTAACCCGGATTCAGTG	0.562000													3	23					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834872	178834872	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:178834872G>T	uc001gma.3	-	2	516	c.40C>A	c.(40-42)Cta>Ata	p.L14I	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.L14I|ANGPTL1_uc010pnc.1_5'UTR	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	14						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCCACTAGTAGGAAGAATAGC	0.378000													5	64					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20870127	20870127	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:20870127T>A	uc010sii.2	+	7	1093	c.738T>A	c.(736-738)tgT>tgA	p.C246*	SLCO1C1_uc010sij.2_Nonsense_Mutation_p.C197*|SLCO1C1_uc009zip.3_Nonsense_Mutation_p.C80*|SLCO1C1_uc001rei.3_Nonsense_Mutation_p.C246*|SLCO1C1_uc010sik.2_Nonsense_Mutation_p.C128*	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	246					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					GCTCATTATGTGCCAAACTAT	0.343000													8	73					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35480625	35480625	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:35480625C>A	uc003okv.4	-	0	23	c.11G>T	c.(10-12)cGg>cTg	p.R4L	TULP1_uc003okw.4_Missense_Mutation_p.R4L|TULP1_uc021yyx.1_Missense_Mutation_p.R4L|TULP1_uc021yyy.1_Missense_Mutation_p.R4L	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	4					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGTTTCATCCCGCAGAGGCAT	0.622000													4	61					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869833	151869833	+	Missense_Mutation	SNP	G	G	T	rs146486229	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:151869833G>T	uc022chf.1	+	0	523	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L	MAGEA6_uc004ffq.1_Missense_Mutation_p.V175L|MAGEA6_uc004ffr.1_Missense_Mutation_p.V175L	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	175	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGGCCACGTGTACATCTT	0.527000													10	96					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						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)			GCTGGACCCACGCCAGCAGCA	0.428000													18	235					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	uc011dwh.1	+	6	718	c.710A>C	c.(709-711)gAg>gCg	p.E237A	MEP1A_uc010jzh.1_Missense_Mutation_p.E209A|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.E109A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	209	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443000													5	85					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	uc001dgg.3	-	13	2707	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	830	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						GGAGGGATCTCCCTTTTTTCT	0.572000													13	130					0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	uc011egy.2	-	6	848	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_uc011egz.2_Missense_Mutation_p.L255V|PHF10_uc011eha.1_Missense_Mutation_p.L108V	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	257	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418000													14	169					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53666575	53666575	+	Silent	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	uc001sck.2	+	5	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_uc001scj.2_Silent_p.S155S	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	480					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522000													22	223					0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694587	43694587	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:43694587C>A	uc001jao.1	-	7	1014	c.929G>T	c.(928-930)cGg>cTg	p.R310L	RASGEF1A_uc001jap.1_Missense_Mutation_p.R302L	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	302	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GAAGCACTCCCGGGCCACATC	0.617000													3	25					0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606670	82606670	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:82606670C>A	uc011lfs.2	-	0	538	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	180						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTAACTGCCCCAAGAATTACT	0.393000													7	101					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132165395	132165395	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	uc003eor.3	+	3	209	c.144_splice	c.e3+1	p.Q48_splice	DNAJC13_uc010htq.2_Splice_Site_p.Q48_splice	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	48							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368000													17	28					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36340544	36340544	+	Missense_Mutation	SNP	C	C	A	rs114428177	by1000genomes	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:36340544C>A	uc002oby.3	-	5	776	c.620G>T	c.(619-621)cGg>cTg	p.R207L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	207	Ig-like C2-type 2.		TPR -> I (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGAGCTCCGGGGTGTCAC	0.542000													6	92					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594068	7594068	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:7594068C>A	uc003mxr.3	+	1	317	c.258C>A	c.(256-258)acC>acA	p.T86T	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	86					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGCTATACCAAAGAAGAAG	0.323000													5	54					0	0	1	0	0
SPDYE5	442590	broad.mit.edu	37	7	75130987	75130987	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75130987C>T	uc011kfy.2	+	5	998	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	288	Arg-rich.																CAGGAAGAACCGCTCTCAGAT	0.582000													72	220					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11217672	11217672	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:11217672C>A	uc021tcy.1	+	20	2572	c.2342C>A	c.(2341-2343)cCc>cAc	p.P781H	CLEC16A_uc002dan.4_Missense_Mutation_p.P763H|CLEC16A_uc002dao.3_Missense_Mutation_p.P779H|CLEC16A_uc002dap.3_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	781								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCGTCCAGCCCCCATTCCAAG	0.602000													6	89					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45002404	45002404	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:45002404C>A	uc003tmh.2	-	21	3135	c.2991G>T	c.(2989-2991)ccG>ccT	p.P997P	MYO1G_uc003tmg.2_Silent_p.P759P|MYO1G_uc010kym.2_Silent_p.P882P	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	997						myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGCTGCTCCGGCCTGGGCT	0.731000													3	10					0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18644141	18644141	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:18644141C>A	uc002njk.1	-	6	1072	c.959G>T	c.(958-960)gGg>gTg	p.G320V	FKBP8_uc010xqi.1_Missense_Mutation_p.G349V|FKBP8_uc002njj.1_Missense_Mutation_p.G321V|FKBP8_uc021uqp.1_Missense_Mutation_p.G161V	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	320					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACTGTACTCCCCCTGCTGGGC	0.622000													4	23					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	uc004ajl.1	-	25	4621	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_uc004ajk.1_Missense_Mutation_p.D1456E|TRPM6_uc022bib.1_Missense_Mutation_p.D1456E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D417E	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493000													44	98					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107580685	107580685	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:107580685C>A	uc003vev.2	-	22	3743	c.3582G>T	c.(3580-3582)tcG>tcT	p.S1194S	LAMB1_uc003vew.2_Silent_p.S1170S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1170	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S1170S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAGACCCCCGAGTACCCTC	0.592000													7	111					0	0	1	0	0
LOC390660	390660	broad.mit.edu	37	15	82620366	82620366	+	RNA	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:82620366C>T	uc021ssl.1	+	18		c.3846C>T			LOC390660_uc010bls.1_Non-coding_Transcript					Homo sapiens FLJ00317 protein (LOC390660), non-coding RNA.																		CTCGGGCACACGCCTGAGCCT	0.652000													5	19					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	uc001dsg.3	+	6	1479	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	346					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488000													15	27					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7780707	7780707	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:7780707C>A	uc001ijs.3	+	15	2243	c.2081C>A	c.(2080-2082)cCa>cAa	p.P694Q		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	694					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACGCCACCCCCACATGTGATG	0.572000													6	98					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	304490	304490	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:304490C>A	uc001qhz.3	-	13	1994	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W	SLC6A12_uc001qhy.3_5'UTR|SLC6A12_uc001qia.3_Missense_Mutation_p.G444W|SLC6A12_uc001qib.3_Missense_Mutation_p.G444W|SLC6A12_uc009zdh.2_Missense_Mutation_p.G444W	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	444					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			ATGTACATCCCGCCCTGTGGG	0.567000													4	63					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308554	20308554	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:20308554G>T	uc002nou.2	+	3	1092	c.1035G>T	c.(1033-1035)acG>acT	p.T345T		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGATTCATACGGGAGAGAAAC	0.398000													4	62					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70975706	70975706	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:70975706C>A	uc002ezr.3	-	42	6834	c.6683G>T	c.(6682-6684)cGa>cTa	p.R2228L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2229										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)				CACCACTCCTCGGTAGCAGTC	0.517000													5	77					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195491914	195491914	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:195491914C>A	uc021xjp.1	-	9	14034	c.13878G>T	c.(13876-13878)tgG>tgT	p.W4626C	MUC4_uc003fuz.3_Missense_Mutation_p.W224C|MUC4_uc003fva.3_Missense_Mutation_p.W106C|MUC4_uc003fvb.3_Missense_Mutation_p.W142C|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.W142C|MUC4_uc010hzr.3_Intron|MUC4_uc021xjm.1_Missense_Mutation_p.W135C|MUC4_uc021xjn.1_Missense_Mutation_p.W315C|MUC4_uc021xjo.1_Missense_Mutation_p.W106C|MUC4_uc021xjg.1_Missense_Mutation_p.W106C|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.W190C|MUC4_uc021xjj.1_Missense_Mutation_p.W190C|MUC4_uc021xjk.1_Missense_Mutation_p.W367C|MUC4_uc021xjl.1_Missense_Mutation_p.W106C|MUC4_uc003fvo.3_Missense_Mutation_p.W390C|MUC4_uc003fvp.3_Missense_Mutation_p.W339C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1383					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAACTCTCCCCAGGGCCCGT	0.637000													5	55					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304661	53304661	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53304661G>A	uc002qad.3	-	3	594	c.437C>T	c.(436-438)tCg>tTg	p.S146L	ZNF28_uc002qac.3_Missense_Mutation_p.S92L|ZNF28_uc010eqe.3_Missense_Mutation_p.S92L|ZNF28_uc021uza.1_Missense_Mutation_p.S93L	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGCAGATGCGAATGAAAGCT	0.398000													17	319					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574174	57574174	+	Silent	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	uc001snd.3	+	31	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1766					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617000													25	224					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	uc002orx.3	+	27	2848	c.2739A>T	c.(2737-2739)tgA>tgT	p.*913C	ARHGEF1_uc002ory.3_Nonstop_Mutation_p.*880C|ARHGEF1_uc002orz.3_Nonstop_Mutation_p.*751C|ARHGEF1_uc002osa.3_Nonstop_Mutation_p.*928C|ARHGEF1_uc002osb.3_Missense_Mutation_p.R841W|ARHGEF1_uc002osc.3_Missense_Mutation_p.R613W|ARHGEF1_uc002osd.3_Nonstop_Mutation_p.*572C	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	0					Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657000													9	21					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648112	150648112	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:150648112C>A	uc003wic.3	-	7	2443	c.2042G>T	c.(2041-2043)cGg>cTg	p.R681L	KCNH2_uc003wib.3_Missense_Mutation_p.R341L|KCNH2_uc011kux.2_Missense_Mutation_p.R585L|KCNH2_uc003wid.3_Missense_Mutation_p.R341L|KCNH2_uc003wie.3_Missense_Mutation_p.R681L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	681					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GATGAACTCCCGCACCCGCAG	0.617000													6	67					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868263	97868263	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:97868263T>C	uc003dsg.1	+	0	34	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGACAGAGTTTGTTCTCAC	0.393000													9	126					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:98138802C>T	uc001kml.2	-	16	2483	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552000													15	134					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3135567	3135567	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	uc002klp.3	-	14	2521	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_uc002klq.3_Silent_p.V729V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	729	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458000													14	15					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566936	42566936	+	Missense_Mutation	SNP	C	C	T	rs145589136		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42566936C>T	uc002osj.1	-	2	351	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	GRIK5_uc010eib.1_Missense_Mutation_p.V25M	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	106						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATATGGCTCACGGTGGAGGCA	0.632000													28	53					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	uc010inb.3	+	4	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_uc011cgh.2_Missense_Mutation_p.T110A|SYNPO2_uc010inc.3_Missense_Mutation_p.Y978C	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	765						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448000													22	56					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	uc010rji.2	-	0	525	c.525C>G	c.(523-525)aaC>aaG	p.N175K	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433000													20	98					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39932794	39932794	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:39932794G>T	uc004den.4	-	3	2097	c.1805C>A	c.(1804-1806)cCg>cAg	p.P602Q	BCOR_uc004dep.4_Missense_Mutation_p.P602Q|BCOR_uc004deo.4_Missense_Mutation_p.P602Q|BCOR_uc004dem.4_Missense_Mutation_p.P602Q|BCOR_uc004deq.4_Missense_Mutation_p.P602Q	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	602					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGGAGTGGCCGGGGGCTGGCC	0.592000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	58					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275670	32275670	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr22:32275670C>A	uc011alu.2	+	37	4167	c.3965C>A	c.(3964-3966)tCc>tAc	p.S1322Y	DEPDC5_uc011als.2_Missense_Mutation_p.S1222Y|DEPDC5_uc003als.3_Missense_Mutation_p.S1291Y|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.S1313Y|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.S740Y|DEPDC5_uc003alw.3_Missense_Mutation_p.S589Y|DEPDC5_uc011alx.2_Missense_Mutation_p.S139Y|DEPDC5_uc010gwk.3_Missense_Mutation_p.S317Y|DEPDC5_uc011aly.2_Missense_Mutation_p.S139Y	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1291					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGGCCAGCCTCCTATGCAAGT	0.572000													5	57					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	uc001eum.4	+	1	178	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_uc009wlo.3_Missense_Mutation_p.R6G|PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Splice_Site|PRPF3_uc010pcb.2_Missense_Mutation_p.R6G	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	6	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423000													7	128					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17157478	17157478	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:17157478C>A	uc003wxm.3	-	13	2115	c.1876G>T	c.(1876-1878)Ggg>Tgg	p.G626W	MTMR7_uc011kya.2_Missense_Mutation_p.G260W|MTMR7_uc011kyb.2_Missense_Mutation_p.G217W	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	626							protein tyrosine phosphatase activity	p.S625S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCCTCCACCCCGGACTCTTGG	0.512000													6	66					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799653	133799653	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:133799653C>A	uc004bzz.3	-	2	928	c.683G>T	c.(682-684)cGg>cTg	p.R228L	FIBCD1_uc011mcc.2_Missense_Mutation_p.R228L	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	228					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCGGGTTCCCCGGGCAGGCGC	0.721000													4	27					0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70666556	70666556	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:70666556C>A	uc001jou.3	+	1	284	c.177C>A	c.(175-177)ccC>ccA	p.P59P	DDX50_uc001jot.3_Silent_p.P59P	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	59						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TGGATGCTCCCAAGGCCAAAA	0.378000													6	97					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	uc001lkp.3	-	8	1352	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567000													6	18					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548007	22548007	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:22548007G>T	uc003xcm.1	-	1	1501	c.1143C>A	c.(1141-1143)ccC>ccA	p.P381P	EGR3_uc011kzn.1_Silent_p.P343P|EGR3_uc011kzo.2_Silent_p.P327P	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	381					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGACCACGGGGGCCAGCG	0.667000													4	21					0	0	1	0	0
SOX14	8403	broad.mit.edu	37	3	137483992	137483992	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:137483992C>A	uc003erm.2	+	0	859	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	122					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						TGAGCGCGCCCGAGAAAGCCC	0.701000													5	50					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:47427856C>T	uc003gxh.3	+	8	1620	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_uc011bze.2_Missense_Mutation_p.R346C	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCTACGGGCGCGCCCTGGA	0.642000													6	51					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149547345	149547345	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:149547345G>T	uc010lpn.3	+	4	1227	c.1035G>T	c.(1033-1035)gaG>gaT	p.E345D		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	345	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						TCACCCGGGAGGAGTGGGGCA	0.587000													4	27					0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51456307	51456307	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:51456307C>A	uc003dbe.2	-	14	3286	c.3101G>T	c.(3100-3102)cGg>cTg	p.R1034L	VPRBP_uc021wys.1_Missense_Mutation_p.R1033L|VPRBP_uc003dbf.1_Missense_Mutation_p.R363L	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1087					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ATTGGCTTCCCGGAACACTGA	0.483000													3	30					0	0	1	0	0
LOC150776	150776	broad.mit.edu	37	2	132277809	132277809	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:132277809G>T	uc002tsz.3	+	2	836	c.389G>T	c.(388-390)cGc>cTc	p.R130L	LOC150776_uc002tsy.3_Non-coding_Transcript					Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane pseudogene (LOC150776), non-coding RNA.																		GGCCACACCCGCGGCCCCAGG	0.687000													3	11					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186362642	186362642	+	Missense_Mutation	SNP	C	C	G	rs149523201		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:186362642C>G	uc010hyq.3	+	4	788	c.527C>G	c.(526-528)gCg>gGg	p.A176G	FETUB_uc011brz.2_Missense_Mutation_p.A28G|FETUB_uc003fqn.3_Missense_Mutation_p.A176G|FETUB_uc010hyr.3_Missense_Mutation_p.A139G|FETUB_uc010hys.3_Missense_Mutation_p.A28G|FETUB_uc003fqp.4_Missense_Mutation_p.A111G	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	176	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity	p.L175L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGTCTCTTGCGAAATACAAC	0.478000													6	112					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562524	125562524	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:125562524G>T	uc011lze.2	+	0	123	c.123G>T	c.(121-123)ctG>ctT	p.L41L		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CCAGCCTCCTGGGTAATGGAC	0.547000													5	64					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111896981	111896981	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:111896981C>A	uc011ebc.2	-	4	1681	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvd.3_5'Flank|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.G356W|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.G356W|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.G356W|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.G356W	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	365					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AAGGACTCCCCAGGAGCACCA	0.552000													6	68					0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56650807	56650807	+	Silent	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:56650807G>T	uc001skm.4	-	3	343	c.253C>A	c.(253-255)Cga>Aga	p.R85R	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	85							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ACCTCGTTTCGGGAGGCAGCA	0.493000													4	39					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448792	60448792	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:60448792G>A	uc002ybn.2	+	6	974	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	CDH4_uc002ybr.2_Missense_Mutation_p.V259M|CDH4_uc002ybp.2_Missense_Mutation_p.V222M	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	296	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGGCACCTACGTGATGACCGT	0.662000													33	66					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967494	4967494	+	Silent	SNP	T	T	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrY:4967494T>A	uc004fqo.3	+	1	2609	c.1875T>A	c.(1873-1875)acT>acA	p.T625T	PCDH11Y_uc010nwg.1_Silent_p.T614T|PCDH11Y_uc004fql.1_Silent_p.T614T|PCDH11Y_uc004fqm.1_Silent_p.T614T|PCDH11Y_uc004fqn.1_Silent_p.T625T|PCDH11Y_uc004fqp.1_Silent_p.T396T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACTAATCACTGTAACTGATC	0.393000													5	32					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20255579	20255579	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	uc003gpr.1	+	0	345	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_uc003gps.1_Silent_p.R47R	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	47	LRRNT.				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						TGGCGCTGCGCAGCGTGCCCA	0.667000													8	129					0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36028116	36028116	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:36028116C>A	uc001bza.3	+	4	1394	c.1267C>A	c.(1267-1269)Cgc>Agc	p.R423S	NCDN_uc001bzb.3_Missense_Mutation_p.R423S|NCDN_uc001bzc.3_Missense_Mutation_p.R406S	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	423					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTCCTCGTCCGCTATGCCAA	0.652000													4	54					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131848633	131848633	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:131848633G>A	uc003ytd.4	-	11	2821	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_uc010mds.3_Silent_p.S724S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	855					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)			GCTTCAGGACGGAGTTCAGCC	0.537000										HNSCC(32;0.087)			40	57					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	uc002egm.1	+	3	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	NOD2_uc021tia.1_Missense_Mutation_p.D411G|NOD2_uc010cbk.1_Missense_Mutation_p.D552G|NOD2_uc002egl.1_Missense_Mutation_p.D357G|NOD2_uc010cbl.1_Missense_Mutation_p.D357G|NOD2_uc010cbm.1_Missense_Mutation_p.D357G|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	579	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607000													6	35					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114711014	114711014	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:114711014C>A	uc021pyi.1	+	1	745	c.238C>A	c.(238-240)Cgg>Agg	p.R80R	TCF7L2_uc001lah.3_Silent_p.R80R|TCF7L2_uc010qro.2_Silent_p.R80R|TCF7L2_uc001lae.4_Silent_p.R80R|TCF7L2_uc010qrm.2_Silent_p.R80R|TCF7L2_uc010qrn.2_Silent_p.R80R|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Silent_p.R80R|TCF7L2_uc021pyj.1_Silent_p.R80R|TCF7L2_uc021pyk.1_Silent_p.R80R|TCF7L2_uc021pyl.1_Silent_p.R80R|TCF7L2_uc010qrp.2_Silent_p.R80R|TCF7L2_uc021pym.1_Silent_p.R80R|TCF7L2_uc021pyn.1_Silent_p.R80R|TCF7L2_uc021pyo.1_Silent_p.R80R|TCF7L2_uc021pyp.1_Silent_p.R80R|TCF7L2_uc010qrq.2_Silent_p.R80R|TCF7L2_uc001lac.4_Silent_p.R80R|TCF7L2_uc010qrk.2_Silent_p.R80R|TCF7L2_uc001lad.4_Silent_p.R80R|TCF7L2_uc001lag.4_Silent_p.R80R|TCF7L2_uc001laf.4_Silent_p.R80R|TCF7L2_uc010qrl.2_Silent_p.R80R|TCF7L2_uc010qrr.2_5'UTR|TCF7L2_uc010qrs.2_5'UTR|TCF7L2_uc010qrt.2_5'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	80					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AGACAAATCCCGGGAAAGTTT	0.746000			T	VTI1A	colorectal								3	14					0	0	1	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86067399	86067399	+	Silent	SNP	G	G	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:86067399G>A	uc002sqq.1	-	6	1254	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ST3GAL5_uc010fgq.1_Silent_p.F194F|ST3GAL5_uc002sqp.1_Silent_p.F352F	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA.	375					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGACTGTCGAAGTAGTGCA	0.463000													32	72					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231679	40231679	+	Silent	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:40231679C>A	uc003cka.3	+	9	1525	c.1390C>A	c.(1390-1392)Cga>Aga	p.R464R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R464R|MYRIP_uc010hhw.3_Silent_p.R375R|MYRIP_uc011ayz.2_Silent_p.R277R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	464	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGGCTCTTCCCGAGAAGTTGG	0.622000													4	64					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39882823	39882823	+	Splice_Site	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:39882823G>T	uc001zkh.3	+	14	2432	c.2253_splice	c.e14+1	p.R751_splice	THBS1_uc010bbi.3_Splice_Site_p.R223_splice	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	751					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAGATGACAGGGTAAAAACA	0.403000													6	58					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9524025	9524025	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:9524025C>A	uc010dwq.3	-	8	2784	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	ZNF266_uc002mll.3_Missense_Mutation_p.G526W|ZNF266_uc002mlm.3_Missense_Mutation_p.G526W|ZNF266_uc002mln.3_Missense_Mutation_p.G526W|ZNF266_uc002mlo.3_Missense_Mutation_p.G526W	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AAGGCTTTCCCGCACTCCTTA	0.433000													6	73					0	0	1	0	0
NPTX2	4885	broad.mit.edu	37	7	98256544	98256544	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:98256544G>T	uc003upl.2	+	3	1133	c.956G>T	c.(955-957)cGg>cTg	p.R319L		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	319	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGGACGACACGGGATGGCATG	0.622000													6	86					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	uc002wfq.3	+	3	1004	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_uc010zps.2_Missense_Mutation_p.V195G|SIRPA_uc002wfr.3_Missense_Mutation_p.V215G|SIRPA_uc002wfs.3_Missense_Mutation_p.V215G|SIRPA_uc002wft.3_Missense_Mutation_p.V215G	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	215	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572000													7	103					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155307999	155308000	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:155307999_155308000insT	uc009wqq.3	-	26	9178_9179	c.8698_8699insA	c.(8698-8700)acafs	p.T2900fs	ASH1L_uc001fkt.3_Frame_Shift_Ins_p.T2895fs	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2900					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T2895fs*44(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTTTCCTCTGTTTTTTTTTCA	0.520													7	157	---	---	---	---					
SDHA	6389	broad.mit.edu	37	5	251704	251704	+	Frame_Shift_Del	DEL	G	-	-	rs111797600	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:251704delG	uc011clv.1	+	12	2030	c.1915delG	c.(1915-1917)gccfs	p.A639fs	SDHA_uc003jao.4_Intron|SDHA_uc011clw.2_Intron|SDHA_uc003jaq.4_Intron|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	0					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCCAAAAAATGCCTTTTTCCC	0.517									Familial Paragangliomas				3	4	---	---	---	---					
POM121C	100101267	broad.mit.edu	37	7	75053866	75053867	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	uc003udk.4	-	10	1698_1699	c.813_814insA	c.(811-816)ctagacfs	p.L271fs		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	513	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				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						TTCTCTAAGTCTAGGTCCTCGG	0.510													102	194	---	---	---	---					
