Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NPY5R	4889	broad.mit.edu	37	4	164271443	164271443	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	uc003iqn.3	+	3	200	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_uc021xtw.1_Silent_p.D6D	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	6					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGAGCTCGACGAGTATTATA	0.358000													23	36					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:41790659T>G	uc010lxb.3	-	17	5623	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_uc010lxc.3_Silent_p.P1693P|KAT6A_uc003xon.4_Silent_p.P1693P	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													6	14					0	0	1	0	0
PRSS27	83886	broad.mit.edu	37	16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	uc002crf.3	-	5	1128	c.737T>G	c.(736-738)gTg>gGg	p.V246G	PRSS27_uc002cre.3_Missense_Mutation_p.V210G|PRSS27_uc002crg.3_Missense_Mutation_p.V144G	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	Homo sapiens protease, serine 27 (PRSS27), mRNA.	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667000													6	8					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	uc001kfb.3	+	4	1393	c.361G>A	c.(361-363)Gca>Aca	p.A121T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.A121P(6)|p.?(5)|p.R55fs*1(5)|p.A121_F145del(2)|p.Y27fs*1(2)|p.A121E(2)|p.Y27_N212>Y(2)|p.F56fs*2(1)|p.A121fs*4(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)		TCATGTTGCAGCAATTCACTG	0.393000		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)			54	23					0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94749822	94749822	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	uc003kla.1	+	3	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	155								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAATCGCTCGCCAGGAAGT	0.463000													39	46					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	rs115898236	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	uc002lht.3	+	3	504	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_uc010xej.1_Missense_Mutation_p.V150M	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	150					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	p.D149D(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363000													29	48					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	uc001kdn.3	-	7	2140	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	WAPAL_uc009xsv.3_5'Flank|WAPAL_uc001kdo.3_Missense_Mutation_p.R674C|WAPAL_uc009xsw.3_Missense_Mutation_p.R668C	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	674	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTAAGGCAACGTGTGTTTAGA	0.333000													16	6					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	uc003yqw.3	+	34	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1553						integral to membrane		p.R1553R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478000													14	39					0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43413378	43413378	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:43413378C>T	uc021wjo.1	-	0	827	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	ZNF295_uc002yzz.4_Missense_Mutation_p.R276Q|ZNF295_uc002zab.4_Missense_Mutation_p.R276Q|ZNF295_uc002yzy.4_Missense_Mutation_p.R276Q|ZNF295_uc002zaa.4_Missense_Mutation_p.R276Q|ZNF295_uc010gov.1_Missense_Mutation_p.R276Q|ZNF295_uc002zac.2_Missense_Mutation_p.R276Q	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	276					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						AACAGGTGGCCGTGGTCTCTT	0.428000													23	46					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204305768	204305768	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:204305768A>G	uc002vad.3	-	13	2370	c.2145T>C	c.(2143-2145)ccT>ccC	p.P715P		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	715					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggaggagggggagggg	0.622000													5	42					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100377162	100377162	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	uc003uwj.3	+	35	6574	c.6409C>T	c.(6409-6411)Cgg>Tgg	p.R2137W	ZAN_uc003uwk.3_Missense_Mutation_p.R2137W|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.R225W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2138	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCAGGGCGCGGGAAAAGTG	0.642000													10	28					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	uc001wru.3	+	9	1253	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	NPAS3_uc001wrs.3_Missense_Mutation_p.R384C|NPAS3_uc001wrv.3_Missense_Mutation_p.R367C|NPAS3_uc001wrt.3_Missense_Mutation_p.R365C	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	397	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAAGTACTATCGCTGGATGCA	0.373000													23	38					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	uc003vvy.1	+	0	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_uc003vvz.3_Missense_Mutation_p.L43V	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	43						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682000													19	34					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	uc002cly.3	+	12	1898	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	536						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667000													14	12					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	uc003vlr.2	-	7	2168	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(2)|p.R619L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458000										HNSCC(24;0.065)			33	74					0	0	1	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72420448	72420448	+	Missense_Mutation	SNP	C	C	G	rs400282	byFrequency	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:72420448C>G	uc003two.3	-	2	331	c.140G>C	c.(139-141)tGg>tCg	p.W47S	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twm.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twp.3_Missense_Mutation_p.W47S|NSUN5P2_uc003twq.3_Missense_Mutation_p.W47S|NSUN5P2_uc010lan.2_5'UTR					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.									p.W47S(6)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						CACAGGCATCCATGACATGGG	0.612000													6	109					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	uc002qbx.1	+	6	2683	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_uc002qby.1_Missense_Mutation_p.G417R|ZNF331_uc002qbz.1_Missense_Mutation_p.G417R|ZNF331_uc010eqr.1_Missense_Mutation_p.G417R|ZNF331_uc002qca.1_Missense_Mutation_p.G417R|ZNF331_uc021uzg.1_Missense_Mutation_p.G417R|ZNF331_uc021uzh.1_Missense_Mutation_p.G417R|ZNF331_uc002qcb.1_Missense_Mutation_p.G417R|ZNF331_uc002qcc.1_Missense_Mutation_p.G417R|ZNF331_uc002qcd.1_Missense_Mutation_p.G417R	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473000			T	?	follicular thyroid adenoma								17	50					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	uc003wqu.1	-	2	334	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507000													66	51					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923248	158923248	+	Silent	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	uc003qrf.3	+	12	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657000													6	17					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	uc021vft.1	+	20	3301	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_uc002rou.3_Missense_Mutation_p.Q767R|LTBP1_uc002rov.3_Missense_Mutation_p.Q714R|LTBP1_uc010ymz.2_Missense_Mutation_p.Q767R|LTBP1_uc010yna.2_Missense_Mutation_p.Q714R|LTBP1_uc010ynb.2_Missense_Mutation_p.Q33R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1093	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473000													55	62					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	uc002ycq.3	-	74	10358	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S	LAMA5_uc021wfw.1_Missense_Mutation_p.R3431S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3431	Laminin G-like 4.				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	p.V3430L(1)		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)	TTCTCCCAGCGCACGGAGACC	0.721000													3	19					0.115264	0.115264	1	1	0
CD200R1L	344807	broad.mit.edu	37	3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	uc003dzi.1	-	2	549	c.323C>T	c.(322-324)tCg>tTg	p.S108L	CD200R1L_uc010hqf.1_Missense_Mutation_p.S87L|CD200R1L_uc011bhw.1_Missense_Mutation_p.S87L	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	108	Ig-like V-type.					integral to membrane	receptor activity	p.S108S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463000													47	65					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	uc001cyp.3	-	6	1007	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	C8B_uc010oon.2_Missense_Mutation_p.H252Y|C8B_uc010ooo.2_Missense_Mutation_p.H262Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTCGTAATGGAGCATGAGG	0.468000													32	38					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	uc002ohk.3	+	2	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	161					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCCGGCAGGGCCTTCCTC	0.711000													71	153					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083938	21083938	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	uc002zsz.4	-	37	4557	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PI4KA_uc002zsy.4_Silent_p.T242T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1432					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCAGCAGCGTCCTGCGCT	0.597000													4	4					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	uc010edt.3	+	6	1465	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_uc010edu.3_Missense_Mutation_p.A373T|CD22_uc010edv.3_Missense_Mutation_p.A461T|CD22_uc002nzb.4_Missense_Mutation_p.A284T|CD22_uc010xst.2_Missense_Mutation_p.A289T|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	461	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCCCATGGCGCCTGGGAGGA	0.542000													33	96					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195488980	195488980	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	uc021xjp.1	-	13	14646	c.14490G>A	c.(14488-14490)caG>caA	p.Q4830Q	MUC4_uc003fuz.3_Silent_p.Q428Q|MUC4_uc003fva.3_Silent_p.Q310Q|MUC4_uc003fvb.3_Silent_p.Q346Q|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.Q346Q|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.Q339Q|MUC4_uc021xjn.1_Silent_p.Q519Q|MUC4_uc021xjo.1_Silent_p.Q310Q|MUC4_uc021xjg.1_Silent_p.Q310Q|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.Q394Q|MUC4_uc021xjj.1_Silent_p.Q394Q|MUC4_uc021xjk.1_Silent_p.Q571Q|MUC4_uc021xjl.1_Silent_p.Q310Q|MUC4_uc003fvo.3_Silent_p.Q594Q|MUC4_uc003fvp.3_Silent_p.Q543Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1587					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTGCGGTTCTGGTACTCGG	0.736000													10	25					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	uc003cxg.3	-	8	1118	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_uc011bcs.1_Missense_Mutation_p.P388S|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667000													3	27					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34911630	34911630	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:34911630C>T	uc002yrz.3	-	2	304	c.-7_splice	c.e2-1		GART_uc002yrx.3_5'UTR|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_5'UTR|GART_uc002ysa.2_5'UTR	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGTTCTGTCTGTAAAGCAG	0.438000													38	98					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7637984	7637984	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	uc002giu.1	+	5	950	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_uc002git.3_Silent_p.S312S|DNAH2_uc010vuk.2_Silent_p.S312S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	312	Stem (By similarity).		S -> T (in dbSNP:rs3744254).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S312S(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522000													32	53					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152773771	152773771	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	uc004fhr.2	+	7	1211	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	325						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617000													164	164					0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230923895	230923895	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	uc002vqd.2	-	1	633	c.174C>T	c.(172-174)aaC>aaT	p.N58N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.N58N|SLC16A14_uc002vqf.3_Silent_p.N58N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	58						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCATTCCACGTTGAGGACAC	0.562000													52	49					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	uc001axr.2	-	1	1045	c.482G>A	c.(481-483)cGc>cAc	p.R161H	HSPB7_uc001axo.2_Missense_Mutation_p.R68H|HSPB7_uc001axp.2_Missense_Mutation_p.R156H|HSPB7_uc001axq.2_Missense_Mutation_p.R160H|HSPB7_uc001axs.2_Missense_Mutation_p.R143H|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	68					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627000													77	115					0	0	1	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177102	89177102	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	uc022bzr.1	+	0	18	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_uc004efe.3_Silent_p.D6D	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D6D(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517000													34	47					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	uc001cqb.3	-	13	1590	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_uc010omd.2_Missense_Mutation_p.A313V|MKNK1_uc001cqc.3_Missense_Mutation_p.A408V|MKNK1_uc009vyi.3_3'UTR|MKNK1_uc010ome.2_3'UTR|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	449					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622000													20	38					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1571791	1571791	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	uc001agv.1	-	18	2047	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	CDK11B_uc009vkj.2_Missense_Mutation_p.A314V|CDK11B_uc001ags.1_Missense_Mutation_p.A515V|CDK11B_uc001agt.1_Missense_Mutation_p.A440V|CDK11B_uc001aha.1_Missense_Mutation_p.A621V|CDK11B_uc001agw.1_Missense_Mutation_p.A605V|CDK11B_uc001agy.1_Missense_Mutation_p.A648V|CDK11B_uc001agx.1_Missense_Mutation_p.A639V|CDK11B_uc001agz.1_Missense_Mutation_p.A401V	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	670	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCTTGACTGCTGGGAGCTC	0.572000													5	42					0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814264	75814264	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr13:75814264A>G	uc010ths.2	-	0	254	c.213T>C	c.(211-213)taT>taC	p.Y71Y						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CTCTTCCCACATAAAGCCGAC	0.363000													4	66					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	uc003zww.3	+	1	377	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.R41T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592000													6	83					0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369775	78369775	+	Silent	SNP	T	T	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:78369775T>C	uc001ozl.4	-	33	8101	c.7638A>G	c.(7636-7638)acA>acG	p.T2546T	ODZ4_uc001ozk.4_Silent_p.T771T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2546					signal transduction	integral to membrane		p.S2545F(2)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCTGGTGATTGTGGAGCCAT	0.537000													48	53					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147259309	147259309	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	uc003weu.2	+	11	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	619	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGATGGCAGCGGACCTCTGG	0.398000										HNSCC(39;0.1)			42	94					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	uc004dhs.4	-	3	2216	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	ZNF41_uc004dhu.4_Nonsense_Mutation_p.R709*|ZNF41_uc004dht.4_Nonsense_Mutation_p.R589*|ZNF41_uc004dhv.4_Nonsense_Mutation_p.R685*|ZNF41_uc004dhw.4_Nonsense_Mutation_p.R677*|ZNF41_uc004dhy.4_Nonsense_Mutation_p.R675*|ZNF41_uc004dhx.4_Nonsense_Mutation_p.R675*|ZNF41_uc011mlm.2_Nonsense_Mutation_p.R589*	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	717						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448000													47	55					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67034837	67034837	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:67034837C>T	uc002eqv.3	+	3	664	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CES4A_uc010vix.2_Silent_p.R160R|CES4A_uc002eqw.3_Silent_p.R160R|CES4A_uc010viy.2_Silent_p.R62R|CES4A_uc002eqx.3_5'UTR|CES4A_uc002eqy.3_Silent_p.R62R	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	160						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TGGCCGCCCGCGAGAAAGTGG	0.647000													16	35					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	uc010kxc.3	+	1	322	c.98A>G	c.(97-99)aAt>aGt	p.N33S	SEPT7_uc011kat.2_Missense_Mutation_p.N33S|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	35					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373000													64	87					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:186276075T>C	uc001gru.4	+	6	1275	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T367T|PRG4_uc009wyl.3_Silent_p.T315T|PRG4_uc009wym.3_Silent_p.T274T|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T408T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662000													14	156					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960229	117960229	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	uc004equ.3	+	3	1495	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	ZCCHC12_uc022cdh.1_Missense_Mutation_p.R341Q	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493000													62	90					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	39					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29611340	29611340	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	uc001bru.3	+	13	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_uc009vtq.3_Silent_p.L759L|PTPRU_uc009vtr.3_Silent_p.L759L|PTPRU_uc001brw.3_Silent_p.L759L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	759					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGCTGTCCTCATCCTTCTCC	0.617000													37	62					0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	906524	906524	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	uc001ace.3	+	5	835	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_uc001acd.3_Missense_Mutation_p.G215E|PLEKHN1_uc001acf.3_Missense_Mutation_p.G227E	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692000													11	10					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903765	4903765	+	Silent	SNP	C	C	T	rs138268565		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	uc010qyp.2	+	0	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D239V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443000													39	49					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	uc001luu.4	+	13	879	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNNT3_uc001lun.2_Missense_Mutation_p.R119C|TNNT3_uc001luw.4_Missense_Mutation_p.R215C|TNNT3_uc001luo.4_Missense_Mutation_p.R215C|TNNT3_uc001lup.4_Missense_Mutation_p.R221C|TNNT3_uc001luq.4_Missense_Mutation_p.R215C|TNNT3_uc001lur.3_Missense_Mutation_p.R215C|TNNT3_uc010qxf.2_Missense_Mutation_p.R221C|TNNT3_uc010qxg.2_Missense_Mutation_p.R155C	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(2)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612000													95	124					0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	uc011ksx.2	+	0	482	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	161					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458000													62	150					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	uc003zww.3	+	1	1844	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.A530D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	530						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667000													15	36					1.5739e-10	1.60927e-10	1	1	0
EXOC1	55763	broad.mit.edu	37	4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	uc003hbe.1	+	4	726	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.E190*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.E190*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	190					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393000													25	31					2.41591e-17	2.49827e-17	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49937975	49937975	+	Silent	SNP	G	G	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	uc001ruh.1	+	6	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L	KCNH3_uc010smj.1_Silent_p.L273L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	333					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701000													11	16					6.40141e-05	6.47254e-05	1	1	0
DQ599787	0	broad.mit.edu	37	15	102312969	102312969	+	Splice_Site	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr15:102312969C>T	uc002ccq.3	+	1		c.1_splice	c.e1-1		DQ588124_uc010utn.2_5'Flank|DQ572823_uc021sze.1_5'Flank|DQ580168_uc002ccs.1_5'Flank|DQ601694_uc010uto.1_5'Flank|DQ582073_uc002cct.1_5'Flank|DQ571638_uc002ccu.3_5'Flank|DQ570882_uc002ccv.1_5'Flank|DQ593032_uc010utp.2_5'Flank|DQ589204_uc021szf.1_5'Flank|DQ578258_uc002ccx.3_5'Flank					Homo sapiens piRNA piR-54315, complete sequence.																		TTGGCTCCAGCGGAGTTGAAA	0.572000													12	15					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8379260	8379260	+	Silent	SNP	A	A	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	uc002glm.3	-	42	5982	c.5886T>G	c.(5884-5886)ggT>ggG	p.G1962G	MYH10_uc002gll.3_Silent_p.G1931G|MYH10_uc010cnx.3_Silent_p.G1940G	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1931					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGATGGGGCCACCCCGCCTGG	0.567000													12	60					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	uc009vqd.3	-	55	7259	c.7219G>A	c.(7219-7221)Gtg>Atg	p.V2407M	HSPG2_uc001bfj.3_Missense_Mutation_p.V2406M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2406	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGGCACACGTACTCGCCC	0.657000													10	18					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495759	6495759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:6495759G>A	uc002mfg.1	-	3	858	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	TUBB4A_uc002mff.1_Missense_Mutation_p.R179C|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	251					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GCCAGCTTGCGCAGGTCGGCG	0.682000													45	139					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642000													55	79					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638772	149638772	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	uc011mxu.2	+	2	1162	c.852G>A	c.(850-852)gcG>gcA	p.A284A	MAMLD1_uc011mxt.1_Silent_p.A271A|MAMLD1_uc004fee.2_Silent_p.A309A|MAMLD1_uc011mxv.2_Silent_p.A284A|MAMLD1_uc011mxw.2_Silent_p.A236A	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	309					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632000													59	78					0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135313709	135313709	+	Silent	SNP	A	A	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	uc004ezt.3	-	7	1628	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_uc004ezs.3_Silent_p.A434A|MAP7D3_uc011mwc.2_Silent_p.A451A|MAP7D3_uc010nsa.2_Silent_p.A427A	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AAACCTTTGGAGCGTCTCTCG	0.423000													65	91					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	311930	311930	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	uc001qhz.3	-	5	1130	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	SLC6A12_uc001qia.3_Missense_Mutation_p.T156P|SLC6A12_uc001qib.3_Missense_Mutation_p.T156P|SLC6A12_uc009zdh.2_Missense_Mutation_p.T156P|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	156					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517000													34	51					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	uc003zaa.1	-	0	5811	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1933						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.A1933A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGGCCTGCGCCTCCAGCAG	0.667000													35	64					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	uc003wbx.2	-	6	1016	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	TRPV6_uc003wbw.1_Missense_Mutation_p.R49W|TRPV6_uc010lou.1_Missense_Mutation_p.R134W	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	263					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522000													78	170					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207252343	207252343	+	Silent	SNP	G	G	A	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	uc001hfh.3	+	14	1504	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	PFKFB2_uc010psc.2_Silent_p.A367A|PFKFB2_uc010psd.2_Silent_p.A258A	NM_001018053	NP_001018063	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 2, mRNA.	0	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552000													75	94					0	0	1	0	0
CDK11B	984	broad.mit.edu	37	1	1635943	1635943	+	Missense_Mutation	SNP	A	A	C	rs1534950	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1635943A>C	uc010nys.2	-	13	1688	c.1580T>G	c.(1579-1581)gTg>gGg	p.V527G	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Intron|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron			P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 4, mRNA.	0	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGACCAGGACACTGCCCCCAC	0.657000													9	18					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44949046	44949046	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	uc011mkz.2	+	25	4138	c.3763G>A	c.(3763-3765)Gca>Aca	p.A1255T	KDM6A_uc004dge.4_Missense_Mutation_p.A1203T|KDM6A_uc011mla.2_Missense_Mutation_p.A1158T|KDM6A_uc011mlb.2_Missense_Mutation_p.A1210T|KDM6A_uc011mlc.2_Missense_Mutation_p.A907T|KDM6A_uc022bvj.1_Missense_Mutation_p.A1124T|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.A842T	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1203	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.R1255W(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTTATGAAGCAAATGTTCC	0.373000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								16	33					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29855969	29855969	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:29855969T>C	uc010jro.3	+	1	463	c.317T>C	c.(316-318)aTc>aCc	p.I106T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AACCTGCGGATCGCGCTCCGC	0.697000													3	20					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8216517	8216517	+	Silent	SNP	C	C	T			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	uc002glc.3	+	2	1034	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.F293F|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592000													33	55					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155176790	155176790	+	Silent	SNP	G	G	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	uc003inw.2	-	20	5457	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1819	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408000													22	18					0	0	1	0	0
SNAPIN	23557	broad.mit.edu	37	1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	uc001fcq.3	+	2	361_363	c.286_288delAAC	c.(286-288)aacdel	p.N97del		NM_012437	NP_036569	O95295	SNAPN_HUMAN	Homo sapiens SNAP-associated protein (SNAPIN), mRNA.	97					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433													47	72	---	---	---	---					
NR1I3	9970	broad.mit.edu	37	1	161202999	161203000	+	Frame_Shift_Ins	INS	-	-	G	rs139473535	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:161202999_161203000insG	uc001fzx.3	-	3	570_571	c.367_368insC	c.(367-369)cgcfs	p.R123fs	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzm.3_Frame_Shift_Ins_p.R48fs|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzw.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzz.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzh.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gab.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001gac.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzp.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzg.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001gaa.3_Frame_Shift_Ins_p.R123fs|NR1I3_uc001fzj.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzi.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzl.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc001fzk.3_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkm.2_Frame_Shift_Ins_p.R94fs|NR1I3_uc010pkn.1_Frame_Shift_Ins_p.R123fs	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	123					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGCC	0.564													7	273	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939825_31939826insG	uc003nyv.3	+	0	180_181	c.52_53insG	c.(52-54)cggfs	p.R18fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	18						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634													10	229	---	---	---	---					
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	189	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	uc003zaf.1	-	31	14203	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_uc003zab.1_Frame_Shift_Del_p.G4541fs|PLEC_uc003zac.1_Frame_Shift_Del_p.G4545fs|PLEC_uc003zad.2_Frame_Shift_Del_p.G4541fs|PLEC_uc003zae.1_Frame_Shift_Del_p.G4509fs|PLEC_uc003zag.1_Frame_Shift_Del_p.G4519fs|PLEC_uc003zah.2_Frame_Shift_Del_p.G4527fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.G4568fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4678	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGACTCAGGGCCCCCCAGGGA	0.716													2	4	---	---	---	---					
PTAR1	375743	broad.mit.edu	37	9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	uc004ahj.4	-	3	434	c.412delG	c.(412-414)gaafs	p.E138fs	PTAR1_uc004ahi.3_Frame_Shift_Del_p.E59fs	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	Homo sapiens protein prenyltransferase alpha subunit repeat containing 1 (PTAR1), mRNA.	138					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388													16	17	---	---	---	---					
