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
BAI1	575	broad.mit.edu	37	8	143623501	143623501	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr8:143623501C>T	uc003ywm.3	+	26	4089	c.3906C>T	c.(3904-3906)ttC>ttT	p.F1302F		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1302					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGCCCGACTTCCCCAACCACT	0.657000														36			26		0	0	0.004656	0	0
PCLO	27445	broad.mit.edu	37	7	82476533	82476533	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:82476533G>A	uc003uhx.2	-	10	13974	c.13685C>T	c.(13684-13686)cCc>cTc	p.P4562L	PCLO_uc003uhv.2_Missense_Mutation_p.P4562L|PCLO_uc003uht.1_Missense_Mutation_p.P13L|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4450					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAAGTCAAGGGAATTCCATT	0.368000														13			5		0	0	0.001168	0	0
HSPA5	3309	broad.mit.edu	37	9	128002471	128002471	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:128002471C>T	uc004bpn.3	-	2	733	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	158					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AAATAAGCCTCAGCGGTTTCT	0.358000										Prostate(1;0.17)				20			4		0	0	0.009096	0	0
KCNC1	3746	broad.mit.edu	37	11	17793228	17793228	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:17793228C>T	uc009yhc.1	+	1	642	c.587C>T	c.(586-588)tCc>tTc	p.S196F	KCNC1_uc001mnk.4_Missense_Mutation_p.S196F	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	196						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GCCTTCGCTTCCCTCTTCTTC	0.577000														50			11		0	0	0.008291	0	0
PACS1	55690	broad.mit.edu	37	11	65987258	65987258	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:65987258G>A	uc001oha.2	+	7	1154	c.1020G>A	c.(1018-1020)cgG>cgA	p.R340R		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	340					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						TCCTGAAGCGGTTTAAAGTTT	0.478000														23			3		0	0	0.009096	0	0
POTEG	404785	broad.mit.edu	37	14	19553512	19553512	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr14:19553512C>T	uc001vuz.1	+	0	148	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	32										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACTGCTTCCCCTGGTGCA	0.587000														396			9		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236087	140236087	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:140236087C>T	uc003lhx.2	+	0	454	c.454C>T	c.(454-456)Cca>Tca	p.P152S	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_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.P152S|PCDHAC2_uc011dad.2_Missense_Mutation_p.P152S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	168	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)			CTCTCGATTTCCACTAGAAGG	0.428000														89			20		0	0	0.012319	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356375	40356375	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr4:40356375G>A	uc003gva.1	+	4	1294	c.1278G>A	c.(1276-1278)agG>agA	p.R426R		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	426					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGCTGACGAGGAATATTGAGT	0.498000														32			3		0	0	0.004672	0	0
ODZ1	10178	broad.mit.edu	37	X	123871004	123871004	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:123871004G>A	uc010nqy.3	-	3	643	c.579C>T	c.(577-579)ctC>ctT	p.L193L	ODZ1_uc011muj.2_Silent_p.L193L|ODZ1_uc004euj.3_Silent_p.L193L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	193	Poly-Pro.|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						GTGGCGGTGGGAGGGGTCTGA	0.562000														52			9		0	0	0.004482	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761206	121761206	+	Missense_Mutation	SNP	C	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:121761206C>A	uc003ksw.1	+	4	1368	c.1162C>A	c.(1162-1164)Cca>Aca	p.P388T	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.P388T|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.P435T|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P82T|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	388					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.P388L(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GAAGTTGACTCCAGCAGGCCT	0.498000														40			10		1.58986e-06	1.70104e-06	0.008291	1	0
CBLN2	147381	broad.mit.edu	37	18	70209153	70209153	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr18:70209153G>A	uc002lku.2	-	1	478	c.243C>T	c.(241-243)tcC>tcT	p.S81S	CBLN2_uc002lkv.2_Silent_p.S81S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	81						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGATGCCTAGGGAGGAGGTGA	0.697000														27			6		0	0	0.001168	0	0
ACACB	32	broad.mit.edu	37	12	109660343	109660343	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:109660343C>T	uc001tob.3	+	24	3715	c.3596C>T	c.(3595-3597)tCg>tTg	p.S1199L	ACACB_uc001toc.3_Missense_Mutation_p.S1199L	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1199					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.S1199S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTTCCCTGTCGGACGAGCTG	0.572000														60			15		0	0	0.002450	0	0
ACAN	176	broad.mit.edu	37	15	89400694	89400694	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr15:89400694C>T	uc010upo.1	+	11	5252	c.4878C>T	c.(4876-4878)ccC>ccT	p.P1626P	ACAN_uc010upp.1_Silent_p.P1626P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1626					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCTTCCCTCTGGATTTA	0.522000														118			25		0	0	0.003954	0	0
NAT2	10	broad.mit.edu	37	8	18258334	18258334	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr8:18258334C>T	uc022asl.1	+	0	821	c.821C>T	c.(820-822)tCc>tTc	p.S274F	NAT2_uc003wyw.1_Missense_Mutation_p.S274F	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	274					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TTTAAGATTTCCTTGGGGAGA	0.358000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					34			18		0	0	0.006122	0	0
EPHB2	2048	broad.mit.edu	37	1	23111246	23111246	+	Missense_Mutation	SNP	T	C	C			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:23111246T>C	uc009vqj.1	+	2	633	c.488T>C	c.(487-489)gTg>gCg	p.V163A	EPHB2_uc001bge.3_Missense_Mutation_p.V163A|EPHB2_uc001bgf.3_Missense_Mutation_p.V163A|EPHB2_uc010odu.2_Missense_Mutation_p.V163A	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	163					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACACCGAGGTGCGGAGCTTC	0.602000														31			3		0	0	0.004672	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:115829023C>T	uc021osd.1	-	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NGF_uc001efu.1_Missense_Mutation_p.E132K	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	132					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000														42			6		0	0	0.001168	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050128	84050128	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:84050128G>A	uc002fhg.1	-	7	1158	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	386					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCACCTGGGAAGATGAAGA	0.562000														29			5		0	0	0.000602	0	0
GTF2A2	2958	broad.mit.edu	37	15	59942972	59942972	+	Splice_Site	SNP	A	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr15:59942972A>T	uc002agg.3	-	3	255	c.73_splice	c.e3-1	p.S25_splice		NM_004492	NP_004483	P52657	T2AG_HUMAN	Homo sapiens general transcription factor IIA, 2, 12kDa (GTF2A2), mRNA.	25					RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	TBP-class protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						ATCTGTTGAGACTGAGAAAAG	0.358000														38			6		0	0	0.001168	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306081	179306081	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:179306081C>T	uc003mlh.3	-	8	1568	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TBC1D9B_uc003mli.3_Silent_p.E511E|TBC1D9B_uc003mlj.3_Silent_p.E511E	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	511	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGAGGCTCTCAGGGATAC	0.632000														54			4		0	0	0.009096	0	0
CFTR	1080	broad.mit.edu	37	7	117175352	117175352	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:117175352C>T	uc003vjd.3	+	5	762	c.630C>T	c.(628-630)ctC>ctT	p.L210L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	210	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGTGGCACTCCTCATGGGGC	0.498000									Cystic Fibrosis					100			25		0	0	0.003954	0	0
LILRB4	11006	broad.mit.edu	37	19	55177331	55177331	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:55177331C>T	uc002qgp.3	+	6	1185	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	LILRB4_uc002qgq.3_Missense_Mutation_p.L275F|LILRB4_uc010ert.3_Missense_Mutation_p.L316F|LILRB4_uc010eru.3_Missense_Mutation_p.L304F	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	275						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		tctctccctcctcctcttcct	0.572000														16			4		0	0	0.009096	0	0
GTSE1	51512	broad.mit.edu	37	22	46708187	46708187	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr22:46708187C>T	uc011aqy.2	+	4	1124	c.912C>T	c.(910-912)atC>atT	p.I304I	GTSE1_uc011aqz.2_Silent_p.I151I	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	285					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGCGGGCGATCCCTGTTCCAA	0.582000														39			6		0	0	0.003080	0	0
SZT2	23334	broad.mit.edu	37	1	43896716	43896716	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:43896716C>T	uc001cjk.2	+	31	4784	c.2174C>T	c.(2173-2175)cCc>cTc	p.P725L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGACTTTGCCCCTGGAAGTG	0.622000														52			11		0	0	0.010729	0	0
ADAM9	8754	broad.mit.edu	37	8	38899485	38899485	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr8:38899485G>A	uc003xmr.3	+	11	1229	c.1151G>A	c.(1150-1152)aGt>aAt	p.S384N	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	384	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.S384S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AACTTTAGCAGTTGCAGTGCA	0.368000														32			13		0	0	0.003163	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45243920	45243920	+	Silent	SNP	C	T	T	rs139004299	by1000genomes	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr22:45243920C>T	uc003bfd.3	+	13	1645	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	PRR5-ARHGAP8_uc011aqi.2_Silent_p.L368L|PRR5-ARHGAP8_uc011aqj.2_Silent_p.L282L|PRR5-ARHGAP8_uc003bfi.3_Silent_p.L246L|PRR5-ARHGAP8_uc010gzv.3_Silent_p.L246L|PRR5-ARHGAP8_uc003bfj.3_Silent_p.L277L|PRR5-ARHGAP8_uc003bfk.3_Silent_p.L246L|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TCCAGAGGCTCTACAACCAAG	0.682000														31			8		0	0	0.003080	0	0
CNNM4	26504	broad.mit.edu	37	2	97464958	97464958	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr2:97464958C>T	uc002swx.3	+	3	1944	c.1846C>T	c.(1846-1848)Ctg>Ttg	p.L616L	CNNM4_uc010yuy.2_Silent_p.L103L	NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	616					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CATCCTCATCCTGCAGGTGAG	0.597000														80			18		0	0	0.008871	0	0
ADAM33	80332	broad.mit.edu	37	20	3650273	3650273	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:3650273C>T	uc002wit.3	-	19	2339	c.2252G>A	c.(2251-2253)gGc>gAc	p.G751D	ADAM33_uc002wiq.1_Missense_Mutation_p.G45D|ADAM33_uc002wir.1_Missense_Mutation_p.G751D|ADAM33_uc002wis.3_Missense_Mutation_p.G247D|ADAM33_uc002wiu.3_Missense_Mutation_p.G725D	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	751					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCTGTGTGGGCCATCTTTGGG	0.652000														19			4		0	0	0.000602	0	0
HIST1H2BA	255626	broad.mit.edu	37	6	25727446	25727446	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:25727446C>T	uc003nfd.3	+	0	310	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	104					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						GCGCTTGCTACTGCCGGGAGA	0.507000														44			9		0	0	0.004482	0	0
SEC23B	10483	broad.mit.edu	37	20	18507119	18507119	+	Missense_Mutation	SNP	C	T	T	rs111758941		TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:18507119C>T	uc002wra.2	+	7	1398	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	SEC23B_uc010zsb.2_Missense_Mutation_p.R295C|SEC23B_uc002wrb.2_Missense_Mutation_p.R313C|SEC23B_uc002wqz.2_Missense_Mutation_p.R313C|SEC23B_uc002wrc.2_Missense_Mutation_p.R313C	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GATTCCTATTCGTTCTTGGCA	0.458000														45			12		0	0	0.001855	0	0
PDPR	55066	broad.mit.edu	37	16	70190455	70190455	+	Silent	SNP	C	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:70190455C>A	uc002eyf.1	+	18	3270	c.2313C>A	c.(2311-2313)atC>atA	p.I771I	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.I671I|PDPR_uc002eyg.1_Silent_p.I438I|PDPR_uc002eyh.2_Silent_p.I116I|PDPR_uc010vls.1_Silent_p.I116I|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	771					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.F770F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CCATGTTCATCCTGGACGACC	0.527000														107			8		5.18039e-06	5.50417e-06	0.003080	1	0
PTPRD	5789	broad.mit.edu	37	9	8525030	8525030	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:8525030G>A	uc003zkk.3	-	17	1317	c.574C>T	c.(574-576)Ctt>Ttt	p.L192F	PTPRD_uc003zkp.3_Missense_Mutation_p.L192F|PTPRD_uc003zkq.3_Missense_Mutation_p.L192F|PTPRD_uc003zkr.3_Missense_Mutation_p.L186F|PTPRD_uc003zks.3_Missense_Mutation_p.L186F|PTPRD_uc022bdj.1_Missense_Mutation_p.L189F	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	192	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A191D(1)		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)		TCAATCTGAAGGGCTCCTGTA	0.433000										TSP Lung(15;0.13)				115			24		0	0	0.003954	0	0
CYP20A1	57404	broad.mit.edu	37	2	204111491	204111491	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr2:204111491C>T	uc010zif.2	+	2	758	c.136C>T	c.(136-138)Cca>Tca	p.P46S	CYP20A1_uc002uzv.4_Missense_Mutation_p.P46S|CYP20A1_uc002uzx.4_Intron|CYP20A1_uc002uzy.4_Intron|CYP20A1_uc002uzw.4_Non-coding_Transcript	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	46						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TGGTAATCTTCCAGATATTGT	0.388000														77			12		0	0	0.001855	0	0
SULT2B1	6820	broad.mit.edu	37	19	49090527	49090527	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:49090527G>A	uc002pjl.3	+	2	337	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	SULT2B1_uc002pjm.3_Missense_Mutation_p.E71K	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	86					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		AATCCTGAAGGAAGGGGATCC	0.572000														51			9		0	0	0.006214	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														234			7		0	0	0.001984	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29907123	29907123	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:29907123C>T	uc010vec.2	-	3	815	c.570G>A	c.(568-570)ggG>ggA	p.G190G	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.G120G|SEZ6L2_uc002dur.4_Silent_p.G120G|SEZ6L2_uc002duq.4_Silent_p.G190G|SEZ6L2_uc010ved.2_Silent_p.G146G|SEZ6L2_uc002dus.4_Intron	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	190	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACGGGGCTCCCCAGATCTG	0.552000														51			12		0	0	0.010729	0	0
TRPM1	4308	broad.mit.edu	37	15	31362263	31362263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr15:31362263G>A	uc021sia.1	-	2	615	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Nonsense_Mutation_p.Q84*|TRPM1_uc001zfm.3_Nonsense_Mutation_p.Q62*|TRPM1_uc001zfn.4_Nonsense_Mutation_p.Q62*|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	62					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCGCCACCCTGGAATTCAAGA	0.507000														280			63		0	0	0.014410	0	0
ITGB5	3693	broad.mit.edu	37	3	124538622	124538622	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:124538622G>A	uc003eho.3	-	6	1299	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	ITGB5_uc010hrx.3_5'Flank	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	334	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCACTGCAAAGATGAGGTTGA	0.468000														60			17		0	0	0.006122	0	0
TTI1	9675	broad.mit.edu	37	20	36627679	36627679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:36627679G>A	uc002xhl.3	-	5	2913	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	TTI1_uc002xhm.3_Nonsense_Mutation_p.Q902*	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	902							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGAAGCAGCTGGTTTTTGTGG	0.537000														44			6		0	0	0.001168	0	0
ABCD1	215	broad.mit.edu	37	X	153008478	153008478	+	Silent	SNP	G	A	A	rs140263823	byFrequency	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:153008478G>A	uc004fif.2	+	7	2217	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	606	ABC transporter.		S -> L (in X-ALD; decreased ATP-binding affinity).|S -> P (in X-ALD; CALD, AMN and ALMD- types).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.S606P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCCTGTCGGGTGGCGAGA	0.662000														14			7		0	0	0.001984	0	0
UGGT2	55757	broad.mit.edu	37	13	96536834	96536834	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr13:96536834G>A	uc001vmt.3	-	26	3309	c.3139C>T	c.(3139-3141)Ctc>Ttc	p.L1047F	UGGT2_uc001vmu.1_Missense_Mutation_p.L134F	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1047					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AGGATTAGGAGGGGTGATTCA	0.413000														33			3		0	0	0.004672	0	0
EPHB6	2051	broad.mit.edu	37	7	142562286	142562286	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:142562286C>T	uc011kst.2	+	6	1515	c.728C>T	c.(727-729)cCa>cTa	p.P243L	EPHB6_uc011ksu.2_Missense_Mutation_p.P243L|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	243	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCTTCCTTTCCAGAGACGCAG	0.667000														165			37		0	0	0.004289	0	0
CHGB	1114	broad.mit.edu	37	20	5903298	5903298	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:5903298G>A	uc002wmg.3	+	3	814	c.508G>A	c.(508-510)Gga>Aga	p.G170R	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	170	Poly-Glu.					extracellular region	hormone activity	p.G170E(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGGAGGAGGGAGAGAACTA	0.507000														26			5		0	0	0.001168	0	0
CUL7	9820	broad.mit.edu	37	6	43013793	43013793	+	Missense_Mutation	SNP	A	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:43013793A>T	uc003otq.3	-	12	3029	c.2697T>A	c.(2695-2697)agT>agA	p.S899R	CUL7_uc010jyg.3_Missense_Mutation_p.S178R|CUL7_uc011dvb.2_Missense_Mutation_p.S983R|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	899	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGGCATGTAACTCGAGTCCT	0.577000														39			8		0	0	0.006214	0	0
RB1	5925	broad.mit.edu	37	13	48923091	48923091	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr13:48923091G>A	uc001vcb.3	+	6	706	c.540_splice	c.e6-1	p.S180_splice	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	180					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTAATAGGATATCTACT	0.259000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				31			4		0	0	0.001984	0	0
RFX6	222546	broad.mit.edu	37	6	117252545	117252545	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:117252545G>A	uc003pxm.3	+	18	2726	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	888					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTATGTATGGAACTTCCAAC	0.408000														45			25		0	0	0.006320	0	0
RSPO3	84870	broad.mit.edu	37	6	127469798	127469798	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:127469798C>T	uc003qas.1	+	1	393	c.103C>T	c.(103-105)Cct>Tct	p.P35S	RSPO3_uc003qar.3_Missense_Mutation_p.P35S	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	35						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)		CACAGTGCATCCTAACGTTAG	0.383000														34			18		0	0	0.006122	0	0
AQPEP	206338	broad.mit.edu	37	5	115351463	115351463	+	Splice_Site	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:115351463G>A	uc003kro.3	+	18	2920	c.2756_splice	c.e18+1	p.R919_splice	AQPEP_uc003krp.3_Splice_Site|AQPEP_uc003krs.3_Splice_Site|AQPEP_uc003krq.3_Splice_Site|AQPEP_uc003krr.3_Splice_Site	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	919					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TGAGTAAAAGGTAAGAAGGAA	0.428000														20			5		0	0	0.000602	0	0
C22orf43	51233	broad.mit.edu	37	22	23956351	23956351	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr22:23956351C>T	uc002zxf.3	-	8	890	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	198	Asp-rich.							p.E198D(1)		endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCTTCTTCTTCATCTTTGTGT	0.403000														23			10		0	0	0.013537	0	0
LILRP2	79166	broad.mit.edu	37	19	55220650	55220650	+	RNA	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:55220650C>T	uc002qgs.1	+	0		c.1050C>T			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		CGCAGCGAGCCCCTGGAGCTG	0.592000														14			4		0	0	0.000602	0	0
DNAH12	201625	broad.mit.edu	37	3	57488087	57488087	+	Silent	SNP	C	T	T	rs141849816	byFrequency	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:57488087C>T	uc003dit.2	-	9	1387	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	DNAH12_uc003diu.2_Silent_p.R402R	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	402	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTTCTAAGTTCCGATGTACTG	0.393000														49			4		0	0	0.009096	0	0
MPP1	4354	broad.mit.edu	37	X	154020428	154020428	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:154020428C>T	uc004fmp.2	-	1	389	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	MPP1_uc011mzv.2_Missense_Mutation_p.E49K|MPP1_uc010nvg.2_Missense_Mutation_p.E79K|MPP1_uc011mzw.2_Intron|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	79	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGGCTCTTCTGTGACCTTC	0.567000														81			19		0	0	0.008871	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	G	G			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000														61			6		0	0	0.001168	0	0
HSPA2	3306	broad.mit.edu	37	14	65008497	65008497	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr14:65008497C>T	uc001xhj.3	+	1	1006	c.930C>T	c.(928-930)gcC>gcT	p.A310A	HSPA2_uc001xhk.4_Silent_p.A310A	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	310					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		AGCTCAATGCCGACCTCTTTC	0.652000														22			7		0	0	0.001984	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480031	142480031	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:142480031G>A	uc011ksq.2	+	1	246	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		CCTCATCAGCGAACAGTGGGT	0.577000														58			19		0	0	0.008871	0	0
OR13C3	138803	broad.mit.edu	37	9	107298150	107298150	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:107298150C>T	uc004bcb.1	-	0	945	c.945G>A	c.(943-945)ggG>ggA	p.G315G		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						GTGTCACTACCCCATAAAACA	0.373000														54			10		0	0	0.008291	0	0
ABCA4	24	broad.mit.edu	37	1	94586584	94586584	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:94586584C>T	uc001dqh.3	-	0	122	c.18G>A	c.(16-18)caG>caA	p.Q6Q	ABCA4_uc010otn.1_Silent_p.Q6Q	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	6					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AAAGCTGTATCTGTCTCACGA	0.488000														45			9		0	0	0.004482	0	0
CACNA1E	777	broad.mit.edu	37	1	181689360	181689360	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:181689360G>A	uc009wxt.3	+	13	1965	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	CACNA1E_uc001gow.3_Silent_p.R590R|CACNA1E_uc009wxs.3_Silent_p.R590R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	590					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R590W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCCCTACGGAATTTGGTGG	0.478000														57			9		0	0	0.008291	0	0
SQLE	6713	broad.mit.edu	37	8	126015510	126015510	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr8:126015510C>T	uc011liq.2	+	1	1310	c.384C>T	c.(382-384)atC>atT	p.I128I		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	128					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AAGTTATCATCGTGGGAGCTG	0.448000														35			19		0	0	0.006122	0	0
DSC3	1825	broad.mit.edu	37	18	28602425	28602425	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr18:28602425C>T	uc002kwj.4	-	6	974	c.819G>A	c.(817-819)ccG>ccA	p.P273P	DSC3_uc002kwi.4_Silent_p.P273P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	273	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GCATTGTGTCCGGTTCATCTC	0.438000														34			11		0	0	0.010729	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101794106	101794106	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:101794106C>T	uc003knn.3	-	5	1283	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.D371N|SLCO6A1_uc003knq.3_Missense_Mutation_p.D309N	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	371						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCACATAAATCCTTGATATTA	0.303000														41			6		0	0	0.001168	0	0
GPR6	2830	broad.mit.edu	37	6	110301378	110301378	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:110301378C>T	uc011eav.2	+	2	1352	c.1108C>T	c.(1108-1110)Cgt>Tgt	p.R370C	GPR6_uc011eaw.2_Missense_Mutation_p.R355C|GPR6_uc003ptu.3_Missense_Mutation_p.R355C|GPR6_uc021zds.1_Missense_Mutation_p.R355C	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	355						integral to plasma membrane		p.R355C(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		AGTGCCCTTTCGTTCCAGGTC	0.592000														99			49		0	0	0.014410	0	0
BSN	8927	broad.mit.edu	37	3	49662694	49662694	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:49662694C>T	uc003cxe.4	+	1	625	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	171					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACGCTGTGTCCCATATGCAA	0.607000														59			6		0	0	0.003080	0	0
DNM3	26052	broad.mit.edu	37	1	172011255	172011255	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:172011255C>T	uc001gie.3	+	7	1275	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	DNM3_uc001gid.4_Missense_Mutation_p.H367Y|DNM3_uc009wwb.2_Missense_Mutation_p.H367Y|DNM3_uc001gif.3_Missense_Mutation_p.H367Y	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	367					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTATTTTTCATGAACGCTT	0.358000														32			10		0	0	0.008291	0	0
C8A	731	broad.mit.edu	37	1	57341848	57341848	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:57341848G>A	uc001cyo.2	+	3	562	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	144	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGCCAGTATGAACCAATTCC	0.507000														49			14		0	0	0.003163	0	0
PER1	5187	broad.mit.edu	37	17	8053142	8053142	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr17:8053142G>A	uc002gkd.3	-	4	820	c.582C>T	c.(580-582)tcC>tcT	p.S194S	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.S178S|PER1_uc010vus.1_Silent_p.S194S	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	194					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACATGTCCATGGAGCAAGGCT	0.592000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						207			44		0	0	0.009718	0	0
NANOG	79923	broad.mit.edu	37	12	7947128	7947129	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:7947128_7947129GG>AA	uc009zfy.1	+	2	706_707	c.490_491GG>AA	c.(490-492)ggt>AAt	p.G164N		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	164					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		GAATAGCAATGGTGTGACGCAG	0.426000														10			5		0	0	0.004672	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777808	18777808	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:18777808G>A	uc003zne.4	+	18	3733	c.3581G>A	c.(3580-3582)gGg>gAg	p.G1194E		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1194	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTGGCCAGCGGGACACTGAGT	0.627000														36			10		0	0	0.006214	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:151935417G>A	uc022chl.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_uc004fgp.3_Silent_p.F250F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000														134			37		0	0	0.004289	0	0
MYO1F	4542	broad.mit.edu	37	19	8587587	8587587	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:8587587C>T	uc002mkg.3	-	25	3119	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	994						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGCCCGGGGTCGTCTGCTGGC	0.697000														44			12		0	0	0.001855	0	0
C12orf36	283422	broad.mit.edu	37	12	13526307	13526307	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:13526307C>T	uc001rbs.2	-	2	500	c.248G>A	c.(247-249)tGg>tAg	p.W83*						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TCGTGCAATCCAGCAGAATGT	0.473000														66			15		0	0	0.003163	0	0
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	T	T	rs111245273	by1000genomes	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552000														65			4		0.00024832	0.00026202	0.009096	1	0
VEGFC	7424	broad.mit.edu	37	4	177608419	177608419	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr4:177608419C>T	uc003ius.1	-	5	1497	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	356	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.P355H(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GGCACATTTTCCAGGATTTAG	0.438000														104			19		0	0	0.008871	0	0
HDAC9	9734	broad.mit.edu	37	7	18975448	18975448	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:18975448G>A	uc003sui.3	+	21	2861	c.2820G>A	c.(2818-2820)acG>acA	p.T940T	HDAC9_uc003sue.3_Silent_p.T937T|HDAC9_uc003suh.3_Silent_p.T937T|HDAC9_uc003suj.3_Silent_p.T896T|HDAC9_uc003suk.3_Silent_p.T185T	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	937	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.T940M(1)		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)	GTCATTTGACGAAGCAATTGA	0.388000														101			15		0	0	0.006122	0	0
FAT1	2195	broad.mit.edu	37	4	187560922	187560922	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr4:187560922G>A	uc003izf.3	-	3	3784	c.3596C>T	c.(3595-3597)aCg>aTg	p.T1199M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1199	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCCTTGACGTAGTTGTGAT	0.328000										HNSCC(5;0.00058)				33			13		0	0	0.002450	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														49			5		0	0	0.000602	0	0
OR4A5	81318	broad.mit.edu	37	11	51411637	51411637	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:51411637G>A	uc001nhi.2	-	0	812	c.759C>T	c.(757-759)ttC>ttT	p.F253F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAACATATATGAAAATACAGG	0.393000														28			4		0	0	0.009096	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892225	9892225	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:9892225G>A	uc010uym.2	-	11	2575	c.2265C>T	c.(2263-2265)atC>atT	p.I755I	GRIN2A_uc002czo.4_Silent_p.I755I|GRIN2A_uc010uyn.2_Silent_p.I598I|GRIN2A_uc002czr.4_Silent_p.I755I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	755					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGTGGCAAAGATGTACCCAC	0.537000														39			12		0	0	0.010729	0	0
ARMC12	221481	broad.mit.edu	37	6	35706273	35706273	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:35706273G>A	uc003ola.3	+	2	530	c.503G>A	c.(502-504)aGa>aAa	p.R168K	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.R141K	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	141							binding										TCTGGCATCAGAAAATTCAGG	0.463000														49			11		0	0	0.002450	0	0
MEP1A	4224	broad.mit.edu	37	6	46800998	46800999	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:46800998_46800999CC>TT	uc011dwh.1	+	9	1424_1425	c.1416_1417CC>TT	c.(1414-1419)gtcctt>gtTTtt	p.L473F	MEP1A_uc010jzh.1_Missense_Mutation_p.L445F|MEP1A_uc011dwg.1_Missense_Mutation_p.L167F|MEP1A_uc011dwi.1_Missense_Mutation_p.L345F	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	445	MATH.				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)			TCTCCCAAGTCCTTGAGAACAC	0.495000														55			24		0	0	0.004672	0	0
PTHLH	5744	broad.mit.edu	37	12	28116578	28116578	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:28116578G>A	uc001rik.3	-	2	530	c.227C>T	c.(226-228)tCg>tTg	p.S76L	PTHLH_uc001ril.3_Missense_Mutation_p.S76L|PTHLH_uc001rim.3_Missense_Mutation_p.S76L|PTHLH_uc001rin.3_Missense_Mutation_p.S76L	NM_198966	NP_945317	P12272	PTHR_HUMAN	Homo sapiens parathyroid hormone-like hormone (PTHLH), transcript variant 4, mRNA.	76					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	p.S76*(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGACACCTCCGAGGTAGCTCT	0.512000														132			26		0	0	0.004656	0	0
NKD2	85409	broad.mit.edu	37	5	1034917	1034917	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:1034917C>T	uc003jbt.1	+	6	478	c.473C>T	c.(472-474)tCg>tTg	p.S158L	NKD2_uc010itf.1_Missense_Mutation_p.S158L	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	158	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GTGGATGCCTCGGTCAACCAC	0.627000														41			14		0	0	0.004007	0	0
BDKRB1	623	broad.mit.edu	37	14	96730313	96730313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr14:96730313G>A	uc021sbj.1	+	0	294	c.294G>A	c.(292-294)tgG>tgA	p.W98*	BDKRB1_uc001yfh.3_Nonsense_Mutation_p.W98*	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	98					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGAATATCTGGAACCAGTTTA	0.552000														67			15		0	0	0.004007	0	0
SALL1	6299	broad.mit.edu	37	16	51174856	51174856	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:51174856C>T	uc021tif.1	-	1	1308	c.986G>A	c.(985-987)aGa>aAa	p.R329K	SALL1_uc021tid.1_Missense_Mutation_p.R329K|SALL1_uc021tie.1_Missense_Mutation_p.R426K|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	426					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CTTGCTTTTTCTTTGCTGGGC	0.507000														71			14		0	0	0.001855	0	0
NOVA1	4857	broad.mit.edu	37	14	26918050	26918050	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr14:26918050C>T	uc001wqa.3	-	5	1059	c.273G>A	c.(271-273)ggG>ggA	p.G91G	NOVA1_uc001wpy.3_Silent_p.G213G|NOVA1_uc001wpz.3_Silent_p.G189G	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	216	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCAAGTTGATCCCATCAGGTT	0.483000														65			9		0	0	0.004482	0	0
HTR3B	9177	broad.mit.edu	37	11	113802492	113802492	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:113802492G>A	uc001pok.3	+	3	409	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HTR3B_uc001pol.3_Missense_Mutation_p.E80K	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	91					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTGGAATGATGAATTTTTATC	0.388000														20			6		0	0	0.001984	0	0
STRC	161497	broad.mit.edu	37	15	43895496	43895496	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr15:43895496C>T	uc001zsf.3	-	22	4567	c.4489G>A	c.(4489-4491)Gga>Aga	p.G1497R	STRC_uc010bdl.3_Missense_Mutation_p.G724R|STRC_uc001zse.3_Missense_Mutation_p.G15R	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1497					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CCTGGGTCTCCTGCAAATAAT	0.547000														44			17		0	0	0.004007	0	0
CXorf58	254158	broad.mit.edu	37	X	23953461	23953461	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:23953461G>A	uc004daz.1	+	6	1048	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	CXorf58_uc011mju.1_Missense_Mutation_p.R235Q	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AACCGTCTACGAAATGAAATG	0.378000														54			7		0	0	0.001984	0	0
CORIN	10699	broad.mit.edu	37	4	47597789	47597789	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr4:47597789G>A	uc003gxm.3	-	21	3171	c.3078C>T	c.(3076-3078)ttC>ttT	p.F1026F	CORIN_uc011bzf.2_Silent_p.F887F|CORIN_uc011bzg.2_Silent_p.F959F	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	1026	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCCATTCGACGAAATATGACA	0.418000														52			10		0	0	0.010729	0	0
RAG2	5897	broad.mit.edu	37	11	36614827	36614827	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:36614827C>T	uc021qge.1	-	0	892	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	RAG2_uc021qgc.1_Missense_Mutation_p.E298K|RAG2_uc021qgd.1_Missense_Mutation_p.E298K|RAG2_uc001mwv.4_Missense_Mutation_p.E298K|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	298					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TCACGAATTTCTATCTTGTTG	0.383000									Familial Hemophagocytic Lymphohistiocytosis					63			13		0	0	0.001855	0	0
TSC2	7249	broad.mit.edu	37	16	2112524	2112524	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:2112524C>T	uc002con.3	+	12	1390	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.S428S|TSC2_uc002coo.3_Silent_p.S428S|TSC2_uc010uvv.2_Silent_p.S391S|TSC2_uc010uvw.2_Silent_p.S379S|TSC2_uc002cop.3_Silent_p.S228S	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	428					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACCTGATCTCCTATAGAGCGC	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					19			10		0	0	0.008291	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482555	140482555	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:140482555C>T	uc003lio.3	+	0	2322	c.2322C>T	c.(2320-2322)ttC>ttT	p.F774F	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	774					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCCAACTTCGTTGCTCAGG	0.507000														55			14		0	0	0.014323	0	0
CHD4	1108	broad.mit.edu	37	12	6705279	6705279	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:6705279G>A	uc001qpo.3	-	12	2081	c.1917C>T	c.(1915-1917)caC>caT	p.H639H	CHD4_uc001qpn.3_Silent_p.H632H|CHD4_uc001qpp.3_Silent_p.H636H	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	639	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TGATCAAGTAGTGGACGTGGC	0.507000														38			9		0	0	0.006214	0	0
MYH8	4626	broad.mit.edu	37	17	10305096	10305096	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr17:10305096C>T	uc002gmm.2	-	22	2790	c.2695G>A	c.(2695-2697)Gat>Aat	p.D899N	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	899					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCAAGCTATCTGCTTCCTAT	0.368000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					86			22		0	0	0.014323	0	0
GPS2	2874	broad.mit.edu	37	17	7226330	7226330	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr17:7226330G>A	uc002gga.1	-	14	2537	c.2530C>T	c.(2530-2532)Ctg>Ttg	p.L844L	GPS2_uc002ggb.1_Silent_p.L844L|GPS2_uc002ggc.1_Silent_p.L190L	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AAGTAGTGCAGGTCGCCCTTG	0.597000														35			5		0	0	0.000602	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40295428	40295428	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr15:40295428C>T	uc001zkm.1	+	22	3320	c.3270C>T	c.(3268-3270)ccC>ccT	p.P1090P	EIF2AK4_uc010bbj.1_Silent_p.P791P|EIF2AK4_uc001zkn.1_Silent_p.P190P|EIF2AK4_uc001zko.1_Silent_p.P28P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	1090	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TACTGCTTCCCCGAAACAGAC	0.468000														38			12		0	0	0.013537	0	0
EMR2	30817	broad.mit.edu	37	19	14875264	14875264	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:14875264G>A	uc002mzp.1	-	10	1521	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Silent_p.F355F|EMR2_uc002mzo.1_Silent_p.F355F|EMR2_uc002mzq.1_Silent_p.F306F|EMR2_uc002mzr.1_Silent_p.F306F|EMR2_uc002mzs.1_Silent_p.F213F|EMR2_uc002mzt.1_Silent_p.F262F|EMR2_uc002mzu.1_Silent_p.F262F|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	355					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CAGGATAACTGAAGTTCAACA	0.567000														35			5		0	0	0.000602	0	0
TSSK1B	83942	broad.mit.edu	37	5	112769724	112769724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:112769724C>T	uc003kqm.2	-	0	1005	c.813G>A	c.(811-813)tgG>tgA	p.W271*	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	271	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		TGGGCTGCATCCAGCAGTGGC	0.627000														36			10		0	0	0.006214	0	0
NWD1	284434	broad.mit.edu	37	19	16860837	16860837	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:16860837G>A	uc002neu.4	+	5	1806	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	NWD1_uc002net.4_Missense_Mutation_p.V327M|NWD1_uc002nev.4_Missense_Mutation_p.V256M|NWD1_uc021uqg.1_Missense_Mutation_p.V327M	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	462	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCCCCGAGGGTGCACCTCAT	0.642000														108			14		0	0	0.003163	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117561	117561	+	RNA	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrGL000205.1:117561C>T	uc002kgk.4	+	0		c.939C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GCATCCCGTCCGCAGCCGTGG	0.617000														18			10		0	0	0.008291	0	0
HLA-J	3137	broad.mit.edu	37	6	29977358	29977358	+	Missense_Mutation	SNP	T	C	C	rs146982767	by1000genomes	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:29977358T>C	uc021yty.1	+	4	404	c.386T>C	c.(385-387)aTg>aCg	p.M129T	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.M126T					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GATTTGTTCATGCCTTCCCTT	0.448000														24			6		0	0	0.001168	0	0
TLE1	7088	broad.mit.edu	37	9	84231585	84231585	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:84231585G>A	uc004alz.3	-	9	1212	c.771C>T	c.(769-771)aaC>aaT	p.N257N	TLE1_uc004aly.3_Silent_p.N247N|TLE1_uc011lsr.2_Silent_p.N247N|TLE1_uc004ama.1_Silent_p.N247N|TLE1_uc011lss.1_Silent_p.N173N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	247	CCN domain.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCACAACTAAGTTGTCATCGC	0.328000														24			13		0	0	0.001855	0	0
BSN	8927	broad.mit.edu	37	3	49693791	49693791	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:49693791C>T	uc003cxe.4	+	4	6916	c.6802C>T	c.(6802-6804)Ccc>Tcc	p.P2268S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2268					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGTAGATTTCCCATTGCTTC	0.607000														84			24		0	0	0.004656	0	0
KLHL20	27252	broad.mit.edu	37	1	173744862	173744862	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:173744862G>A	uc001gjc.3	+	9	1698	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	KLHL20_uc010pmr.2_Missense_Mutation_p.D318N|KLHL20_uc009wwf.3_Missense_Mutation_p.D489N	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	507					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGTATATCAGGACATGATCTA	0.507000														89			10		0	0	0.008291	0	0
LAMA5	3911	broad.mit.edu	37	20	60902710	60902710	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:60902710G>A	uc002ycq.3	-	36	4880	c.4813C>T	c.(4813-4815)Ccc>Tcc	p.P1605S	LAMA5_uc021wfw.1_Missense_Mutation_p.P1605S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1605	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACATTTGGGGCCCTGCACG	0.632000														43			14		0	0	0.001855	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	Missense_Mutation	SNP	C	T	T	rs143443709	by1000genomes	TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:141070139C>T	uc010ncq.3	+	3	1219	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000														68			6		0	0	0.004482	0	0
PHACTR3	116154	broad.mit.edu	37	20	58381144	58381145	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr20:58381144_58381145GG>AA	uc002yau.3	+	7	1690_1691	c.1223_1224GG>AA	c.(1222-1224)agg>aAA	p.R408K	PHACTR3_uc002yat.3_Missense_Mutation_p.R405K|PHACTR3_uc010zzw.2_Missense_Mutation_p.R367K|PHACTR3_uc002yav.3_Missense_Mutation_p.R367K|PHACTR3_uc002yaw.3_Missense_Mutation_p.R367K|PHACTR3_uc002yax.3_Missense_Mutation_p.R297K	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	408						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GTGAAGCTAAGGAACCGGCCAA	0.520000														124			26		0	0	0.004672	0	0
HAL	3034	broad.mit.edu	37	12	96380882	96380882	+	Silent	SNP	A	C	C			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:96380882A>C	uc001tem.1	-	11	1311	c.1014T>G	c.(1012-1014)ctT>ctG	p.L338L	HAL_uc010sux.1_Silent_p.L338L|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Silent_p.L130L	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	338					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGCACCTCAAGGGTCAGGG	0.557000														82			20		0	0	0.008871	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687213	27687213	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:27687213G>A	uc001bny.1	-	14	2286	c.2037C>T	c.(2035-2037)atC>atT	p.I679I	MAP3K6_uc009vsw.1_Silent_p.I671I|MAP3K6_uc001bnz.1_Silent_p.I202I	NM_004672	NP_004663	O95382	M3K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 6 (MAP3K6), mRNA.	679	Protein kinase.				activation of JUN kinase activity		ATP binding|MAP kinase kinase kinase activity|magnesium ion binding			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCGCTCCGGGATCTCCTTGA	0.736000														36			7		0	0	0.001984	0	0
ZFHX3	463	broad.mit.edu	37	16	72993635	72993636	+	Missense_Mutation	DNP	GG	AA	AA	rs140908169		TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr16:72993635_72993636GG>AA	uc002fck.3	-	1	1082_1083	c.409_410CC>TT	c.(409-411)ccg>TTg	p.P137L	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	137					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGAGCCGTCCGGCTGGTAGACG	0.693000														47			16		0	0	0.004672	0	0
GPR123	84435	broad.mit.edu	37	10	134942150	134942150	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr10:134942150G>A	uc001llw.3	+	15	2975	c.2975G>A	c.(2974-2976)gGg>gAg	p.G992E	GPR123_uc001llx.4_Missense_Mutation_p.G273E			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGGCCTTCGGGGCGCTGGCG	0.672000														15			4		0	0	0.009096	0	0
DOCK2	1794	broad.mit.edu	37	5	169454944	169454944	+	Silent	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr5:169454944G>A	uc003maf.3	+	33	3539	c.3459G>A	c.(3457-3459)ctG>ctA	p.L1153L	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.L645L|MIR378E_uc021yhn.1_5'Flank	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1153	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCAGCTCCTGGAGTCAATGT	0.547000														48			8		0	0	0.004482	0	0
C11orf82	220042	broad.mit.edu	37	11	82643251	82643251	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr11:82643251C>T	uc001ozt.3	+	5	1115	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	291					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CTGCCATGATCCCATTCAGGA	0.438000														23			9		0	0	0.004482	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760692	6760692	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr19:6760692C>T	uc002mft.3	-	2	570	c.376G>A	c.(376-378)Gag>Aag	p.E126K	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	126					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						AGGGTGTCCTCGCTAAAGCTG	0.602000														42			13		0	0	0.001855	0	0
CCNB3	85417	broad.mit.edu	37	X	50051656	50051656	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:50051656G>A	uc004dox.4	+	5	785	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	CCNB3_uc004doy.3_Missense_Mutation_p.E163K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	163					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAAAGGAGGAACCCACTAT	0.413000														32			9		0	0	0.004482	0	0
STAG1	10274	broad.mit.edu	37	3	136240075	136240075	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:136240075C>T	uc003era.1	-	6	948	c.656G>A	c.(655-657)aGg>aAg	p.R219K	STAG1_uc003erb.1_Missense_Mutation_p.R219K|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_Missense_Mutation_p.R82K|STAG1_uc003ere.3_Missense_Mutation_p.R219K	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	219					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ACTTGTATGCCTAAAAGCTCT	0.348000														22			7		0	0	0.001984	0	0
PEX14	5195	broad.mit.edu	37	1	10689675	10689675	+	Silent	SNP	C	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:10689675C>A	uc001arn.3	+	8	786	c.765C>A	c.(763-765)gcC>gcA	p.A255A	PEX14_uc009vmv.3_Silent_p.A191A|PEX14_uc010oam.2_Silent_p.A191A|PEX14_uc010oan.2_Silent_p.A212A|PEX14_uc009vmw.3_Silent_p.A191A	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	255					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCTGCGGCCGTGAACCACC	0.647000														42			17		0.000566183	0.000593329	0.004990	1	0
RB1	5925	broad.mit.edu	37	13	49033822	49033822	+	Splice_Site	SNP	A	C	C			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr13:49033822A>C	uc001vcb.3	+	20	2127	c.1961_splice	c.e20-2	p.V654_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTATTCCCACAGTGTATCGGC	0.358000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				38			9		0	0	0.010729	0	0
MSI1	4440	broad.mit.edu	37	12	120794704	120794704	+	Splice_Site	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr12:120794704C>T	uc001tye.1	-	9	716	c.652_splice	c.e9+1	p.G218_splice		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	218					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGCGCATACCCAGCATGCC	0.642000											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			6		0	0	0.001168	0	0
BRWD3	254065	broad.mit.edu	37	X	79936924	79936924	+	Missense_Mutation	SNP	A	G	G			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:79936924A>G	uc004edt.3	-	39	4833	c.4570T>C	c.(4570-4572)Ttc>Ctc	p.F1524L	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.F1353L|BRWD3_uc004edq.3_Missense_Mutation_p.F1120L|BRWD3_uc010nmj.2_Missense_Mutation_p.F1120L|BRWD3_uc004edr.3_Missense_Mutation_p.F1194L|BRWD3_uc004eds.3_Missense_Mutation_p.F1120L|BRWD3_uc004edo.3_Missense_Mutation_p.F1120L|BRWD3_uc004edu.3_Missense_Mutation_p.F1194L|BRWD3_uc004edv.3_Missense_Mutation_p.F1120L|BRWD3_uc004edw.3_Missense_Mutation_p.F1120L|BRWD3_uc004edx.3_Missense_Mutation_p.F1120L|BRWD3_uc004edy.3_Missense_Mutation_p.F1120L|BRWD3_uc004edz.3_Missense_Mutation_p.F1194L|BRWD3_uc004eea.3_Missense_Mutation_p.F1194L|BRWD3_uc004eeb.3_Missense_Mutation_p.F1120L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1524										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TATCCACCGAAGCTCGATGAA	0.388000														49			7		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	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					33			4		0	0	0.009096	0	0
GRIP2	80852	broad.mit.edu	37	3	14563253	14563253	+	Missense_Mutation	SNP	T	G	G			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:14563253T>G	uc021wtn.1	-	7	899	c.899A>C	c.(898-900)gAt>gCt	p.D300A	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	203	PDZ 3.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGGATTCCATCGACACTGAG	0.672000														21			3		0	0	0.004672	0	0
TKT	7086	broad.mit.edu	37	3	53275209	53275209	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:53275209G>A	uc003dgo.3	-	2	450	c.278C>T	c.(277-279)gCc>gTc	p.A93V	TKT_uc011beo.1_Missense_Mutation_p.A46V|TKT_uc003dgq.3_Missense_Mutation_p.A93V|TKT_uc011beq.2_Missense_Mutation_p.A93V|TKT_uc011ber.2_5'UTR	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	93					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CTCCGCCTCGGCCAGGAAACC	0.652000														34			5		0	0	0.001168	0	0
SNX30	401548	broad.mit.edu	37	9	115593151	115593151	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr9:115593151C>T	uc004bgj.4	+	3	754	c.606C>T	c.(604-606)ttC>ttT	p.F202F		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	202	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTAATATTTTCCTTACTGCTA	0.393000														30			6		0	0	0.001168	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417790	138417790	+	Missense_Mutation	SNP	C	T	T	rs150912912		TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:138417790C>T	uc003vuf.3	-	15	1978	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ATP6V0A4_uc003vug.3_Missense_Mutation_p.M580I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.M580I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	580			M -> T (in RTADR; dbSNP:rs3807153).		cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGATAAAAATCATCTCAGGGA	0.428000														23			5		0	0	0.000602	0	0
PARP14	54625	broad.mit.edu	37	3	122422609	122422609	+	Silent	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr3:122422609C>T	uc003efq.4	+	6	3161	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	PARP14_uc021xdc.1_Silent_p.S898S|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.S751S|PARP14_uc003efs.1_Silent_p.S751S	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1034	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TTGTCAACTCCGTTCCCTTGG	0.418000														26			5		0	0	0.000602	0	0
GPR112	139378	broad.mit.edu	37	X	135431586	135431586	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chrX:135431586G>A	uc004ezu.1	+	5	6012	c.5721G>A	c.(5719-5721)atG>atA	p.M1907I	GPR112_uc010nsb.1_Missense_Mutation_p.M1702I|GPR112_uc010nsc.1_Missense_Mutation_p.M1674I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1907					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAATGAGATGGAAACAGAGA	0.433000														91			16		0	0	0.004007	0	0
OR2M3	127062	broad.mit.edu	37	1	248366863	248366863	+	Missense_Mutation	SNP	C	T	T			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:248366863C>T	uc010pzg.2	+	0	494	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S165S(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAACATTTTCCTTCTCCTAC	0.433000														113			86		0	0	0.014410	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146129	31146129	+	Missense_Mutation	SNP	G	A	A			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr7:31146129G>A	uc003tca.2	+	15	1527	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.R441Q|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.R440Q|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.R392Q|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.R441Q	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	413					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GAGATCAAGCGAAAATGGCGA	0.612000														33			7		0	0	0.001984	0	0
SZT2	23334	broad.mit.edu	37	1	43902868	43902868	+	Frame_Shift_Del	DEL	C	-	-			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr1:43902868delC	uc001cjk.2	+	41	5974	c.3364delC	c.(3364-3366)cccfs	p.P1122fs		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2021						peroxisome		p.A1121A(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAGCTGTGCGCCCCGTGGGTA	0.562													---	107	---	---	15	---					
LEMD2	221496	broad.mit.edu	37	6	33756881	33756882	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr6:33756881_33756882delAC	uc011drm.2	-	0	25_26	c.12_13delGT	c.(10-15)ctgtcgfs	p.L4fs	LEMD2_uc011drl.2_5'Flank	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	4	LEM.					integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TCCAGGTCCGACAGGCCGGCCA	0.762													---	44	---	---	24	---					
PTEN	5728	broad.mit.edu	37	10	89653858	89653859	+	Frame_Shift_Ins	INS	-	C	C			TCGA-D3-A1Q7-06A-11D-A19A-08	TCGA-D3-A1Q7-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ab712-7bb1-4ec4-8f15-0779ae8f782e	c59cf762-f216-44f6-b633-c66edb546435	g.chr10:89653858_89653859insC	uc001kfb.3	+	1	1188_1189	c.156_157insC	c.(154-159)gatgtafs	p.D52fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	52	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.D52del(4)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V53G(1)|p.D51del(1)|p.D52N(1)|p.D52G(1)|p.V53del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATTGATGATGTAGTAAGGTA	0.297		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	4	---	---	5	---