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
FERD3L	222894	broad.mit.edu	37	7	19184880	19184880	+	Missense_Mutation	SNP	C	C	T	rs145435922		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:19184880C>T	uc003suo.1	-	0	165	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	36			G -> R (in a colorectal cancer sample; somatic mutation).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G36R(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AAGGAGACCCCGGGTGCGAAG	0.657000													4	43					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:178937422T>C	uc003fjk.3	+	11	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	604	PI3K helical.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C604R(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACTTCTGGACTGTAATTACCC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	16					0	0	1	0	0
BC018860	0	broad.mit.edu	37	MT	7364	7364	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrM:7364A>G	uc011mfh.2	+	0	1464	c.463A>G	c.(463-465)Acc>Gcc	p.T155A	JA429830_uc022bqp.1_5'Flank|JA429831_uc022bqq.1_5'Flank|JA429505_uc022bqr.1_5'Flank|OK/SW-cl.16_uc011mfi.2_5'Flank|AD_1_uc022bqu.1_5'Flank					Homo sapiens cDNA: FLJ22894 fis, clone KAT04907.																		ATAGTAGAAGAACCCTCCATA	0.398000													4	122					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205126443	205126443	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:205126443G>A	uc001hbw.3	-	9	2374	c.2310C>T	c.(2308-2310)agC>agT	p.S770S	DSTYK_uc001hbx.3_Silent_p.S770S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	770	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CAAGTCCCTGGCTGTGCAGGA	0.488000													22	34					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141740	64141740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:64141740G>A	uc004dvu.3	-	1	338	c.182C>T	c.(181-183)gCc>gTc	p.A61V	ZC4H2_uc004dvv.3_Missense_Mutation_p.A38V|ZC4H2_uc022byd.1_Missense_Mutation_p.A38V|ZC4H2_uc022byc.1_Missense_Mutation_p.A38V|ZC4H2_uc011mow.2_Missense_Mutation_p.A61V|ZC4H2_uc011mov.2_Missense_Mutation_p.A38V|ZC4H2_uc004dvw.2_Missense_Mutation_p.A61V	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	61							metal ion binding|protein binding	p.A61T(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCCACATGGGCCATCTTCTC	0.507000													7	20					0	0	1	0	0
C14orf79	122616	broad.mit.edu	37	14	105455303	105455303	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:105455303T>G	uc001ypy.1	+	1	600	c.447T>G	c.(445-447)atT>atG	p.I149M	C14orf79_uc010tym.1_Non-coding_Transcript|C14orf79_uc001ypz.1_Non-coding_Transcript	NM_174891	NP_777551	Q96F83	CN079_HUMAN	Homo sapiens chromosome 14 open reading frame 79 (C14orf79), mRNA.	149										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATGAGAACATTTTAAAGTGTG	0.373000													6	32					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55931950	55931950	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:55931950G>C	uc002adg.3	-	12	2262	c.2214C>G	c.(2212-2214)atC>atG	p.I738M		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	738	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTGCAGGAAGATGGAAGATG	0.488000													43	42					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288206	61288206	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:61288206C>T	uc002ydb.1	+	1	605	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	134					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCTGGAGCGCCGCTATGACCT	0.612000													7	71					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702803	181702803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:181702803C>T	uc009wxt.3	+	20	3374	c.3179C>T	c.(3178-3180)aCg>aTg	p.T1060M	CACNA1E_uc001gow.3_Missense_Mutation_p.T1060M|CACNA1E_uc009wxs.3_Missense_Mutation_p.T1041M|CACNA1E_uc001gox.1_Missense_Mutation_p.T286M	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1060					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						ACGGCCAACACGGACAAGGCC	0.642000													5	15					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45811363	45811363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:45811363C>T	uc010gpt.1	+	10	1749	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	TRPM2_uc002zet.1_Missense_Mutation_p.A550V|TRPM2_uc002zeu.1_Missense_Mutation_p.A550V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A550V|TRPM2_uc002zex.1_Missense_Mutation_p.A336V|TRPM2_uc002zey.1_Missense_Mutation_p.A63V	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	550						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.C549C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGCTTgcgcgcccgcggcg	0.687000													12	19					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71684476	71684476	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:71684476T>C	uc004eau.3	-	7	1185	c.843A>G	c.(841-843)ccA>ccG	p.P281P	HDAC8_uc011mqe.2_Silent_p.P138P|HDAC8_uc011mqg.2_Silent_p.P190P|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Silent_p.P228P|HDAC8_uc010nlk.2_Silent_p.P152P	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	281	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	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)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CAATTCCCACTGGAGTCATGT	0.448000													16	84					0	0	1	0	0
CES1P1	51716	broad.mit.edu	37	16	55806427	55806427	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:55806427C>G	uc002eik.3	+	4	729	c.278C>G	c.(277-279)tCt>tGt	p.S93C	CES1P1_uc010cce.3_Missense_Mutation_p.S93C					Homo sapiens carboxylesterase 1 pseudogene 1 (CES1P1), non-coding RNA.																		GAAAGTGTCTCTGTTCTTGTG	0.552000													7	16					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485731	150485731	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:150485731G>A	uc001euv.3	+	9	1691	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N	ECM1_uc001eus.3_Missense_Mutation_p.D471N|ECM1_uc001eut.3_Missense_Mutation_p.D346N|ECM1_uc009wlu.3_Missense_Mutation_p.D231N	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	471					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTTCATCAATGATCTGTGTGG	0.478000													13	74					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105937564	105937564	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:105937564G>A	uc004emk.3	+	0	497	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 2, mRNA.	137	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAGCGGGCAGAAGAAATGCT	0.383000													13	25					0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125765618	125765618	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:125765618C>G	uc001qcy.2	-	2	543	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	149						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		TTAGCCTCCTCTTTTACATTA	0.493000													26	69					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64374750	64374750	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:64374750G>A	uc021qkw.1	-	22	5519	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	NRXN2_uc021qkx.1_Missense_Mutation_p.A1616V|NRXN2_uc001oas.3_Missense_Mutation_p.A1616V|NRXN2_uc001oao.3_Missense_Mutation_p.A326V|NRXN2_uc001oap.3_Missense_Mutation_p.A640V|NRXN2_uc001oaq.3_Missense_Mutation_p.A1353V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1686					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTCACCACCGCCCCATTGCT	0.582000													9	29					0	0	1	0	0
TCRGV	0	broad.mit.edu	37	7	38402540	38402540	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:38402540C>G	uc003tgs.1	-	1	469	c.279G>C	c.(277-279)agG>agC	p.R93S	LOC100506776_uc003tgp.2_Intron					Homo sapiens cDNA clone IMAGE:5227869, **** WARNING: chimeric clone ****.																		TCAAGTTGTTCCTTGTGCTTG	0.468000													27	38					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:21344752C>G	uc002zto.3	+	7	832	c.729C>G	c.(727-729)ttC>ttG	p.F243L	LZTR1_uc002ztn.3_Missense_Mutation_p.F202L|LZTR1_uc011ahy.2_Missense_Mutation_p.F224L|LZTR1_uc010gsr.1_Missense_Mutation_p.F114L	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	243					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGTTTGTATTCTCTGGGCAAA	0.567000													92	29					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040296	24040296	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:24040296C>T	uc001wkq.2	-	5	2562	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	JPH4_uc010tnr.1_Silent_p.E213E|JPH4_uc001wkr.2_Silent_p.E548E	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	548					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCTTCATCCTCCCCCTCCT	0.672000													65	61					0	0	1	0	0
OS9	10956	broad.mit.edu	37	12	58113962	58113962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:58113962G>A	uc001spj.3	+	12	1888	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.E546K|OS9_uc001spl.3_Intron|OS9_uc001spm.3_Intron|OS9_uc001spn.3_Intron|OS9_uc010sry.2_Intron|OS9_uc010srz.2_Intron	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	561					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	Hrd1p ubiquitin ligase complex|endoplasmic reticulum lumen	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GACTGTCCTCGAGATGAAACG	0.602000													39	85					0	0	1	0	0
B4GALT3	8703	broad.mit.edu	37	1	161143778	161143778	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:161143778C>T	uc001fys.2	-	4	1207	c.551G>A	c.(550-552)cGt>cAt	p.R184H	PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Missense_Mutation_p.R184H|B4GALT3_uc001fyq.2_Missense_Mutation_p.R184H|B4GALT3_uc001fyp.1_Non-coding_Transcript|B4GALT3_uc009wud.2_Missense_Mutation_p.R184H	NM_001199874	NP_001186803	O60512	B4GT3_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA.	184					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CTCTTCATCACGCAGGGCCTC	0.527000													40	37					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81388026	81388026	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:81388026C>G	uc003uhl.3	-	2	514	c.349G>C	c.(349-351)Gac>Cac	p.D117H	HGF_uc003uhm.3_Missense_Mutation_p.D117H|HGF_uc003uhn.1_Missense_Mutation_p.D117H|HGF_uc003uho.1_Missense_Mutation_p.D117H|HGF_uc003uhp.3_Missense_Mutation_p.D117H|HGF_uc022agw.1_Missense_Mutation_p.D117H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	117	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATAGAGGTCAAATTCATGG	0.348000													16	13					0	0	1	0	0
ZNF283	284349	broad.mit.edu	37	19	44352095	44352095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:44352095C>T	uc002oxr.4	+	6	1610	c.1342C>T	c.(1342-1344)Caa>Taa	p.Q448*	ZNF283_uc002oxp.4_Nonsense_Mutation_p.Q309*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCACCTTTCTCAACATCAGAA	0.393000													39	58					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68170953	68170953	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:68170953G>A	uc001ont.3	+	7	1662	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	529	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCAGGTGATCAATGTTG	0.592000													10	40					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719629	140719629	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140719629C>T	uc003ljk.2	+	0	1276	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.T364I	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	367	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCAGGAACCATAATTGGG	0.438000													11	78					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584412	82584412	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584412C>G	uc003uhx.2	-	4	6146	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q	PCLO_uc003uhv.2_Missense_Mutation_p.E1953Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1884					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1953D(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATAATCCTCTATTAGCATC	0.368000													5	47					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101727709	101727709	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:101727709C>A	uc003yjs.1	-	3	1128	c.624G>T	c.(622-624)aaG>aaT	p.K208N	PABPC1_uc011lhc.1_Missense_Mutation_p.K176N|PABPC1_uc011lhd.1_Missense_Mutation_p.K163N|PABPC1_uc003yjt.1_Missense_Mutation_p.K208N|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	208	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CAAAGAGATCCTTAAGGCGCT	0.353000													8	89					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:161113261G>T	uc003lyu.2	+	1	402	c.64G>T	c.(64-66)Gaa>Taa	p.E22*		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)			20	42					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49154288	49154288	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49154288C>G	uc003cwd.2	-	5	1014	c.695G>C	c.(694-696)gGa>gCa	p.G232A	USP19_uc003cwa.3_Missense_Mutation_p.G38A|USP19_uc003cwb.3_Missense_Mutation_p.G318A|USP19_uc003cvz.4_Missense_Mutation_p.G333A|USP19_uc011bcg.2_Missense_Mutation_p.G323A|USP19_uc003cwc.2_5'UTR|USP19_uc011bch.2_Missense_Mutation_p.G333A|USP19_uc011bci.2_Missense_Mutation_p.G318A	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	232					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTTTCTCTCCTGCCAAAGG	0.552000													6	42					0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226923851	226923851	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:226923851A>T	uc010pvo.2	-	1	1649	c.1309T>A	c.(1309-1311)Tgg>Agg	p.W437R	ITPKB_uc001hqh.3_Missense_Mutation_p.W437R	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	437							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GAGAGCTGCCAACGCCCCCCG	0.706000													5	47					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254756	51254756	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:51254756G>A	uc021vhh.1	-	0	1577	c.656C>T	c.(655-657)gCg>gTg	p.A219V	NRXN1_uc021vhg.1_Missense_Mutation_p.A219V|NRXN1_uc021vhi.1_Missense_Mutation_p.A219V|NRXN1_uc021vhj.1_Missense_Mutation_p.A219V|NRXN1_uc021vhk.1_Missense_Mutation_p.A219V	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	219	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCTCGCCCGCCTCGCACGG	0.716000													5	15					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654204	61654204	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:61654204C>T	uc002ljv.3	+	6	986	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	SERPINB8_uc002lju.3_Silent_p.L273L|SERPINB8_uc010xex.2_Silent_p.L91L	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	273					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGATTAAAGCTGGAGGAGAG	0.398000													19	53					0	0	1	0	0
LRRC24	441381	broad.mit.edu	37	8	145749618	145749618	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145749618C>G	uc003zdm.3	-	3	615	c.483G>C	c.(481-483)ctG>ctC	p.L161L	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	161						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGGTCCTCCAGCAGCTCAA	0.617000													11	173					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33292748	33292748	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:33292748C>T	uc001wrq.3	+	12	5899	c.5729C>T	c.(5728-5730)cCg>cTg	p.P1910L		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1910					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGGGAAAACCGAATGTGACT	0.343000													7	26					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82348927	82348927	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:82348927C>G	uc003hmi.1	-	13	1561	c.1417G>C	c.(1417-1419)Gtt>Ctt	p.V473L	RASGEF1B_uc003hmj.1_Missense_Mutation_p.V472L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V431L	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	473					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ATGTGTTAAACTCTGCCTAAG	0.468000													5	21					0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498442	66498442	+	RNA	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:66498442G>A	uc011dxw.2	+	0		c.671G>A								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		CAACAACATCGCAATCACATA	0.418000													7	39					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152749391C>G	uc021zhb.1	-	34	5148	c.4925G>C	c.(4924-4926)aGg>aCg	p.R1642T	SYNE1_uc003qot.4_Missense_Mutation_p.R1649T|SYNE1_uc003qou.4_Missense_Mutation_p.R1642T|SYNE1_uc010kjb.1_Missense_Mutation_p.R1625T|SYNE1_uc003qow.3_Missense_Mutation_p.R937T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1642					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532000										HNSCC(10;0.0054)			40	196					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003773	34003773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:34003773C>T	uc003oir.4	-	7	2477	c.2114G>A	c.(2113-2115)aGc>aAc	p.S705N	GRM4_uc011dsn.2_Missense_Mutation_p.S658N|GRM4_uc010jvh.3_Missense_Mutation_p.S705N|GRM4_uc010jvi.3_Missense_Mutation_p.S397N|GRM4_uc003oio.3_Missense_Mutation_p.S397N|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.S565N|GRM4_uc003oiq.3_Missense_Mutation_p.S572N|GRM4_uc011dsm.2_Missense_Mutation_p.S536N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	705					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGAGATGAGGCTGAAGGTGAT	0.637000													21	120					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106465	27106465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:27106465C>T	uc001bmv.1	+	19	6449	c.6076C>T	c.(6076-6078)Cag>Tag	p.Q2026*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1809*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q872*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q354*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q268*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2026					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q2026*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAACGGAAGCAGGCACCACT	0.542000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								47	48					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72338371	72338371	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:72338371G>C	uc009zrw.1	+	3	586	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TPH2_uc001swy.2_Missense_Mutation_p.E59Q	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	149					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AACAGAGCTAGAGGATGTGCC	0.433000													20	76					0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84608177	84608177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:84608177C>A	uc004amn.3	+	3	2839	c.2792C>A	c.(2791-2793)tCg>tAg	p.S931*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	931						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						ATCTTCAAATCGAAAGCGGAC	0.468000													8	30					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096694	73096694	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096694C>G	uc002jmr.3	+	4	1308	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SLC16A5_uc002jmt.3_Silent_p.L312L|SLC16A5_uc002jmu.3_Silent_p.L312L|SLC16A5_uc010wrt.2_Silent_p.L352L	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	312					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTGGCACTCCTGCTCAATG	0.612000													26	113					0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149782827	149782827	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:149782827G>A	uc003lsc.3	-	6	861	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CD74_uc003lsd.3_Intron|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	225	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGAACCCGGGTGGACAGC	0.577000			T	ROS1	NSCLC								22	180					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136879965	136879965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:136879965C>T	uc003qhc.3	-	28	4398	c.4037G>A	c.(4036-4038)cGt>cAt	p.R1346H	MAP3K5_uc011edj.2_Missense_Mutation_p.R593H	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1346					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAAGTCATCACGTGTAACATA	0.333000													18	42					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120302610	120302610	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:120302610G>A	uc001eid.3	-	2	650	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	HMGCS2_uc010oxj.2_Intron|HMGCS2_uc021osw.1_5'Flank|HMGCS2_uc021osx.1_Missense_Mutation_p.R96C	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	188					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R188H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATGGCATAACGACCTGTAAAG	0.488000													4	24					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56435862	56435862	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:56435862C>T	uc003xsf.3	+	2	1061	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	343						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572000													35	10					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47269915	47269915	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:47269915C>T	uc002xtw.1	-	19	2353	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	PREX1_uc002xtv.1_Missense_Mutation_p.R74Q	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	777					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R777R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTTCGCGCCGACTCCGGAA	0.582000													65	118					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000													3	28					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233271	31233271	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:31233271T>C	uc001utc.2	+	8	3489	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H	USPL1_uc001utd.2_Silent_p.H690H|USPL1_uc001ute.1_Silent_p.H690H	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	1019					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGAACACACATCTGAGACAGG	0.418000													14	80					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096220	73096220	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096220C>T	uc002jmr.3	+	4	834	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC16A5_uc002jmt.3_Silent_p.L154L|SLC16A5_uc002jmu.3_Silent_p.L154L|SLC16A5_uc010wrt.2_Silent_p.L194L	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	154					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCATCACCCTCTGGCCGCTGC	0.647000													13	45					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70291497	70291497	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:70291497A>T	uc001dep.3	+	2	404	c.374A>T	c.(373-375)aAt>aTt	p.N125I	LRRC7_uc001deo.1_Missense_Mutation_p.N163I|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	125						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCAGTGTCAATCCCATTTCT	0.269000													4	12					0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170181480	170181480	+	Silent	SNP	C	C	T	rs151319719	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:170181480C>T	uc003qxg.1	+	17	1941	c.1908C>T	c.(1906-1908)taC>taT	p.Y636Y	C6orf70_uc011ehb.1_Silent_p.Y510Y|C6orf70_uc003qxh.1_Silent_p.Y563Y|C6orf70_uc010kky.1_Silent_p.Y463Y|C6orf70_uc003qxi.1_Silent_p.Y284Y	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	636						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ACACCAGTTACGAAAAGAACA	0.323000													8	19					0	0	1	0	0
C1orf96	126731	broad.mit.edu	37	1	229461116	229461116	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:229461116C>T	uc001htl.4	-	3	757	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	C1orf96_uc009xfc.3_Non-coding_Transcript	NM_145257	NP_660300	Q6IQ19	CA096_HUMAN	Homo sapiens chromosome 1 open reading frame 96 (C1orf96), mRNA.	227						centrosome				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				TTCCTTTTTTCCACCTGTCTT	0.423000													16	33					0	0	1	0	0
PARP2	10038	broad.mit.edu	37	14	20818779	20818779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:20818779G>A	uc001vxc.3	+	4	486	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	PARP2_uc001vxb.1_Missense_Mutation_p.R153Q|PARP2_uc001vxd.3_Missense_Mutation_p.R140Q	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	153					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGGGCCGAGGTAATGAT	0.413000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					8	52					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481947	228481947	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:228481947G>A	uc009xez.1	+	41	11270	c.11226G>A	c.(11224-11226)ccG>ccA	p.P3742P	OBSCN_uc001hsn.3_Silent_p.P3742P|OBSCN_uc001hsq.1_Silent_p.P998P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3742	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGCACCGGTGGAGTGGA	0.627000													38	152					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432392	10432392	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:10432392C>T	uc010coi.3	-	26	3487	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1120H|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1120					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCAATGCGGGCCTGGGA	0.532000													35	19					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57581077	57581077	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:57581077A>G	uc001snd.3	+	41	7335	c.6869A>G	c.(6868-6870)tAt>tGt	p.Y2290C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2290					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTGGCCTATCACCGTGGC	0.637000													26	42					0	0	1	0	0
ALG1	56052	broad.mit.edu	37	16	5122951	5122951	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:5122951G>T	uc002cym.3	+	2	250	c.209_splice	c.e2-1	p.N70_splice	ALG1_uc002cyj.3_Splice_Site|ALG1_uc010bue.3_Splice_Site	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	70					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATTTTTCAGACTCCAAACC	0.438000													6	75					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096839	73096839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096839C>T	uc002jmr.3	+	4	1453	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	SLC16A5_uc002jmt.3_Nonsense_Mutation_p.Q361*|SLC16A5_uc002jmu.3_Nonsense_Mutation_p.Q361*|SLC16A5_uc010wrt.2_Nonsense_Mutation_p.Q401*	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	361					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCCATGGATCAGTTCCCCAG	0.627000													15	49					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100531442	100531442	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:100531442C>G	uc004ehb.3	-	9	1050	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	TAF7L_uc004eha.3_Intron|TAF7L_uc004ehc.2_Missense_Mutation_p.D256H	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	342	Glu-rich.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcttcatcatcc	0.418000													30	36					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151130354	151130354	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:151130354C>A	uc011eem.1	+	7	1291	c.1203C>A	c.(1201-1203)ttC>ttA	p.F401L	PLEKHG1_uc011eel.1_Missense_Mutation_p.F382L|PLEKHG1_uc003qny.1_Missense_Mutation_p.F342L|PLEKHG1_uc003qnz.2_Missense_Mutation_p.F342L	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	342	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGACGCTCTTCCTCTTCGACA	0.562000													8	99					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73100228	73100228	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73100228C>G	uc002jmr.3	+	5	1689	c.1317C>G	c.(1315-1317)ttC>ttG	p.F439L	SLC16A5_uc002jmt.3_Missense_Mutation_p.F439L|SLC16A5_uc002jmu.3_Missense_Mutation_p.F439L|SLC16A5_uc010wrt.2_Missense_Mutation_p.F479L	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	439					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGATCTTTTCTTGGAAGCCA	0.572000													15	65					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10921996	10921996	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:10921996C>T	uc002yip.1	-	18	1396	c.1028_splice	c.e18-1	p.D343_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.D325_splice|TPTE_uc002yir.1_Splice_Site_p.D305_splice|TPTE_uc010gkv.1_Splice_Site_p.D205_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	343	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTGTTCTATCTAGAAAAGAA	0.313000													15	41					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584377	82584377	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584377C>T	uc003uhx.2	-	4	6181	c.5892G>A	c.(5890-5892)acG>acA	p.T1964T	PCLO_uc003uhv.2_Silent_p.T1964T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1895					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						ATCCATTGTACGTGTCTTCTA	0.383000													9	48					0	0	1	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615525	140615525	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140615525G>A	uc003ljc.1	+	0	1588	c.1240G>A	c.(1240-1242)Gcc>Acc	p.A414T						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CAACAGCCCCGCCCTGCACAT	0.632000													51	315					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554486	4554486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:4554486C>T	uc001qmr.1	-	0	295	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	84					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CCTCCGCTGCCGCTTGATCCC	0.652000													35	79					0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810819	65810819	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:65810819C>T	uc001ogv.3	-	1	615	c.455G>A	c.(454-456)cGc>cAc	p.R152H	GAL3ST3_uc001ogw.3_Missense_Mutation_p.R152H	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	152					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCCGGCTCGCGCAGGATGGT	0.697000													7	22					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543063	14543063	+	Missense_Mutation	SNP	A	A	C	rs45626231		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:14543063A>C	uc010dln.3	-	0	537	c.83T>G	c.(82-84)tTt>tGt	p.F28C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	28			F -> C (in dbSNP:rs45626231).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GCGGTGGTGAAACCACTTGCC	0.547000													7	214					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49662661	49662661	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49662661C>G	uc003cxe.4	+	1	592	c.478C>G	c.(478-480)Cag>Gag	p.Q160E		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	160					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)		CTCCGTCCCTCAGATCGCCCC	0.627000													48	39					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516678	140516678	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140516678C>T	uc003liq.3	+	0	1879	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.716000													8	147					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45561130	45561130	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:45561130A>T	uc002pak.3	+	6	685	c.587A>T	c.(586-588)gAc>gTc	p.D196V	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.D134V|CLASRP_uc002pam.3_Missense_Mutation_p.D196V|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	196					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGCAACTCGGACGAAGATGAG	0.612000													31	40					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112876758	112876758	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:112876758T>C	uc003kqn.3	+	8	1506	c.1304T>C	c.(1303-1305)gTg>gCg	p.V435A	YTHDC2_uc010jce.2_Missense_Mutation_p.V435A|YTHDC2_uc010jcf.2_Missense_Mutation_p.V135A	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTCTAAATGTGACTGATGAG	0.403000													7	59					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73096514	73096514	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096514C>T	uc002jmr.3	+	4	1128	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_uc002jmt.3_Silent_p.F252F|SLC16A5_uc002jmu.3_Silent_p.F252F|SLC16A5_uc010wrt.2_Silent_p.F292F	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	252					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F252L(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607000													17	52					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201489	71201489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:71201489A>C	uc003hff.3	+	0	819	c.733A>C	c.(733-735)Agt>Cgt	p.S245R	CABS1_uc021xoz.1_Missense_Mutation_p.S245R	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	245						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATTGACCTAAGTGTTTTAGA	0.408000													6	55					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107169998	107169998	+	RNA	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:107169998G>C	uc021ser.1	-	44		c.2886C>G								Parts of antibodies, mostly variable regions.																		GGCTGTGCTCGTGGATTTGTC	0.532000													8	351					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862963	67862963	+	Silent	SNP	G	G	A	rs147760277	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:67862963G>A	uc009xpn.1	-	13	2052	c.1929C>T	c.(1927-1929)caC>caT	p.H643H	CTNNA3_uc001jmw.2_Silent_p.H643H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	643					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TGCGGACCTCGTGTTCCTCTT	0.458000													25	16					0	0	1	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866752	108866752	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:108866752G>A	uc003hyp.3	+	1	1200	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CYP2U1_uc011cfi.2_Missense_Mutation_p.D164N	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	373					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P372P(2)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GCTGAACCCCGATGTACAAGG	0.408000													9	61					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745756	37745756	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37745756G>T	uc004aag.1	+	15	3771	c.3727G>T	c.(3727-3729)Gac>Tac	p.D1243Y	FRMPD1_uc004aah.1_Missense_Mutation_p.D1243Y	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1243						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCCCCTAGGGACAGCCCTGA	0.512000													44	60					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821770	206821770	+	Silent	SNP	C	C	T	rs146045931		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:206821770C>T	uc001hej.3	+	2	1395	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Silent_p.F389F	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	409	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCCTCTCTTCCCTGGAGAGG	0.488000													46	121					0	0	1	0	0
OR52W1	120787	broad.mit.edu	37	11	6221330	6221330	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:6221330C>A	uc010qzz.2	+	0	877	c.877C>A	c.(877-879)Ctc>Atc	p.L293I		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily W, member 1 (OR52W1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACCTGCCCTCAACCCCCT	0.532000													5	297					0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42268225	42268225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:42268225G>A	uc002ifo.3	+	3	1116	c.959G>A	c.(958-960)gGa>gAa	p.G320E	TMUB2_uc002ifp.3_Missense_Mutation_p.G300E|TMUB2_uc010wiu.2_Missense_Mutation_p.G263E|TMUB2_uc002ifr.3_3'UTR|TMUB2_uc002ift.3_Missense_Mutation_p.G300E|TMUB2_uc002ifx.3_3'UTR|TMUB2_uc002ify.3_Non-coding_Transcript	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	320						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGATGTATGGACGATAAGGA	0.527000													44	112					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511283	195511283	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:195511283C>T	uc021xjp.1	-	1	7324	c.7168G>A	c.(7168-7170)Gct>Act	p.A2390T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	148					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.A2390T(2)		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)		GCTGAGGAAGCGTCGGTGACA	0.592000													3	10					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196573523	196573523	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:196573523C>T	uc002utg.4	+	4	1744	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	SLC39A10_uc002uth.4_Silent_p.I510I|SLC39A10_uc010zgp.2_Silent_p.I60I	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	510					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCTATTTATCATTGAACACT	0.284000													17	41					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152831401G>A	uc021zhb.1	-	5	731	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_uc003qot.4_Missense_Mutation_p.R177W|SYNE1_uc003qou.4_Missense_Mutation_p.R170W|SYNE1_uc010kjb.1_Missense_Mutation_p.R170W|SYNE1_uc003qpa.1_Missense_Mutation_p.R170W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	170	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.R170W(10)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483000										HNSCC(10;0.0054)			37	48					0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37888412C>T	uc022bgx.1	-	0	136	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_uc004aaq.1_Intron|SLC25A51_uc004aar.1_Intron|DQ590189_uc004aat.2_5'Flank|SLC25A51_uc004aav.2_Missense_Mutation_p.A46T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	Homo sapiens mitochondrial carrier triple repeat 1 (MCART1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	46					transport	integral to membrane|mitochondrial inner membrane											AATGTGATTGCGACATTGTTG	0.408000													12	86					0	0	1	0	0
RAP1A	5906	broad.mit.edu	37	1	112234017	112234017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:112234017G>A	uc001ebi.3	+	1	139	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1A_uc001ebk.3_Missense_Mutation_p.G12E|RAP1A_uc001ebl.3_Missense_Mutation_p.G12E	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	12					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	p.S11L(1)		endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CTTGGTTCAGGAGGCGTTGGG	0.368000													16	13					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57953359	57953359	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:57953359T>A	uc002qoq.2	+	1	376	c.122T>A	c.(121-123)tTt>tAt	p.F41Y		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTGGAGAACTTTGCGCTTTTG	0.458000													9	224					0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15472610	15472610	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:15472610C>G	uc002nav.3	-	10	1396	c.1326G>C	c.(1324-1326)aaG>aaC	p.K442N	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.K256N	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	442					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCTCAATTTTCTTATTTCTGT	0.453000													26	21					0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612304	44612304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:44612304C>T	uc003cnj.3	+	5	2118	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Nonsense_Mutation_p.R568*|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	568					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R568*(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		ATGTCTTATTCGACATCAGAG	0.433000													47	44					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28547289	28547289	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:28547289C>T	uc003szq.3	+	3	615	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CREB5_uc003szo.3_Silent_p.F42F|CREB5_uc003szr.3_Silent_p.F68F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	75					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGGGCCTCTTCAGCGAGCTGG	0.542000													78	104					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290899	141290899	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:141290899C>G	uc022cfj.1	-	0	875	c.875G>C	c.(874-876)aGt>aCt	p.S292T	MAGEC2_uc004fbu.2_Missense_Mutation_p.S292T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	292	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGAGAACTGTGGGGCAC	0.498000										HNSCC(46;0.14)			24	60					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24561546	24561546	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:24561546C>T	uc002zzi.1	+	30	5086	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	CABIN1_uc021wnc.1_Silent_p.F1603F|CABIN1_uc002zzj.1_Silent_p.F1574F|CABIN1_uc002zzl.2_Silent_p.F1653F|CABIN1_uc002zzm.1_Silent_p.F78F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1653					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCGGGCCTTCATCCTCACTG	0.602000													27	9					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229150	21229150	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:21229150C>A	uc002red.3	-	25	10718	c.10590G>T	c.(10588-10590)gtG>gtT	p.V3530V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3530					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGCAGCTTCACTGAAGACC	0.443000													67	68					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66944333	66944333	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:66944333G>C	uc002eql.3	-	14	2191	c.1997C>G	c.(1996-1998)aCt>aGt	p.T666S	CDH16_uc010cdy.3_Missense_Mutation_p.T644S|CDH16_uc021tjx.1_Intron|CDH16_uc002eqm.3_Missense_Mutation_p.T569S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	666	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGGCAAGAGTCAGGGCTGG	0.637000													50	35					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:152080396C>T	uc009wne.1	-	2	5569	c.5297G>A	c.(5296-5298)cGc>cAc	p.R1766H	TCHH_uc001ezp.2_Missense_Mutation_p.R1766H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1766	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587000													19	82					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42374009	42374009	+	Silent	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:42374009G>C	uc001zox.3	-	9	902	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	269					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CCTCTGCCTTGAGCTGCAGCC	0.587000													57	83					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:62839350G>A	uc002yii.3	+	6	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	267	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577000													3	25					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:33345744C>T	uc002xav.3	-	7	3378	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_uc002xaw.3_Silent_p.Q269Q|NCOA6_uc021wcd.1_Silent_p.Q269Q|NCOA6_uc021wce.1_Silent_p.Q269Q|NCOA6_uc021wcf.1_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(29)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	64					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71823359	71823359	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:71823359C>A	uc010cgg.3	-	1	338	c.24G>T	c.(22-24)cgG>cgT	p.R8R	AP1G1_uc021tkz.1_5'UTR|AP1G1_uc002fbb.3_Silent_p.R31R|AP1G1_uc010vmg.1_Non-coding_Transcript|AP1G1_uc010vmh.1_Silent_p.R90R|AP1G1_uc021tky.1_Silent_p.R8R	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	8					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGATCAGCTCCCGCAATCTGA	0.453000													12	26					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:55579557G>A	uc001nhw.1	+	0	615	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468000													16	104					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42890923	42890923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:42890923G>A	uc021yzp.1	+	1	298	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PTCRA_uc011duz.1_Missense_Mutation_p.M83I|PTCRA_uc010jxx.1_Missense_Mutation_p.M33I|PTCRA_uc010jxy.3_Missense_Mutation_p.A48T|PTCRA_uc003osx.3_Missense_Mutation_p.A73T|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	73						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGCACTGGATGCCTTCACCTA	0.602000													16	135					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66361138	66361138	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:66361138C>T	uc003hcy.3	-	3	1227	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	EPHA5_uc003hcx.3_Missense_Mutation_p.R276K|EPHA5_uc003hcz.3_Missense_Mutation_p.R345K|EPHA5_uc011cah.2_Missense_Mutation_p.R345K|EPHA5_uc011cai.2_Missense_Mutation_p.R345K|EPHA5_uc003hda.2_Missense_Mutation_p.R345K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	345	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473000										TSP Lung(17;0.13)			30	83					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:7577559G>T	uc002gim.2	-	6	916	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_uc002gig.1_Missense_Mutation_p.S241Y|TP53_uc002gih.3_Missense_Mutation_p.S241Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109Y|TP53_uc010cnf.1_Missense_Mutation_p.S109Y|TP53_uc002gii.1_Missense_Mutation_p.S109Y|TP53_uc010cni.1_Missense_Mutation_p.S241Y|TP53_uc010cnh.1_Missense_Mutation_p.S241Y|TP53_uc002gij.2_Missense_Mutation_p.S241Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148Y|TP53_uc002gio.2_Missense_Mutation_p.S109Y|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	24					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179095162	179095162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:179095162C>T	uc003fjt.3	+	10	1346	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	MFN1_uc003fjs.3_Nonsense_Mutation_p.R419*|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Nonsense_Mutation_p.R272*	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	419					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGAAATTTGTCGACTGTCTGT	0.234000													8	49					0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27321250	27321250	+	Missense_Mutation	SNP	G	G	A	rs140350483	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:27321250G>A	uc010lur.3	-	5	1319	c.710C>T	c.(709-711)aCg>aTg	p.T237M	CHRNA2_uc011lal.2_Missense_Mutation_p.T222M|CHRNA2_uc010lus.3_Missense_Mutation_p.T39M	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	237						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTAGGTGCCCGTGGCATTGAC	0.592000													29	35					0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32138280	32138280	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:32138280C>T	uc001rks.3	+	3	4805	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1464								p.S1464L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AATAAAGCATCGAAGAAAATC	0.373000													5	67					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92523240	92523240	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:92523240G>C	uc001pdj.4	+	6	4484	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1489	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAGAGATGAGAAGCACAAGC	0.493000										TCGA Ovarian(4;0.039)			42	114					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:16945182_16945184delAAT	uc010ocf.2	-	3		c.973_975delATT			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		TACTGATGAAAATAATAACAGAT	0.325													3	5	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:195447912_195447914delTTC	uc010hzo.3	+	0	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611													5	10	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:97736519_97736521delGCT	uc003upd.2	+	0	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													3	3	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				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										GGCTTTCCGGCTCCTCCTCCTCC	0.567													9	448	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	145000951	145000953	+	Splice_Site	DEL	CCT	CCT	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145000951_145000953delCCT	uc003zaf.1	-	30	4625	c.4455_splice	c.e30+1	p.E1485_splice	PLEC_uc003zab.1_Splice_Site_p.E1348_splice|PLEC_uc003zac.1_Splice_Site_p.E1352_splice|PLEC_uc003zad.2_Splice_Site_p.E1348_splice|PLEC_uc003zae.1_Splice_Site_p.E1316_splice|PLEC_uc003zag.1_Splice_Site_p.E1326_splice|PLEC_uc003zah.2_Splice_Site_p.E1334_splice|PLEC_uc003zaj.2_Splice_Site_p.E1375_splice	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1485	Central fibrous rod domain.				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						ACGGGCTGTACCTCCTCCTCCTC	0.621													8	286	---	---	---	---					
KLF6	1316	broad.mit.edu	37	10	3822356	3822356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:3822356delT	uc001iha.3	-	2	1009	c.742delA	c.(742-744)accfs	p.T248fs	KLF6_uc010qaj.2_Intron|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Frame_Shift_Del_p.T206fs	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	248					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGCCTGGTTAACTCATCA	0.552													40	44	---	---	---	---					
PROSER1	80209	broad.mit.edu	37	13	39608335	39608336	+	Splice_Site	INS	-	-	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:39608335_39608336insA	uc001uwy.3	-	2	919	c.46_splice	c.e2-1	p.A16_splice	PROSER1_uc001uwz.3_Intron	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	16								p.?(1)									CAAAACAGCCTAAAAAAAAAAA	0.327													9	37	---	---	---	---					
