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
ZAN	7455	broad.mit.edu	37	7	100349994	100349994	+	RNA	SNP	C	C	A	rs221829		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:100349994C>A	ENST00000542585.1	+	0	2414				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.P756T(8)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCATCTCCCCAGAAAAACC	0.517000													6	152					0.000157383	0.000164647	1	1	0
DST	667	broad.mit.edu	37	6	56373517	56373517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56373517C>T	ENST00000370754.5	-	75	18955	c.18956G>A	c.(18955-18957)tGg>tAg	p.W6319*	DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000361203.3_Nonsense_Mutation_p.W6030*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*			Q03001	DYST_HUMAN	dystonin	6139					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTTCTCCCAAATGAAAAC	0.438000													25	67					0	0	1	0	0
MIB2	142678	broad.mit.edu	37	1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:1560431G>A	ENST00000357210.4	+	6	977	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	254	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657000													4	140					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917543	39917543	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:39917543A>G	ENST00000337304.2	+	1	975	c.93A>G	c.(91-93)ctA>ctG	p.L31L	ATF4_ENST00000396680.1_Silent_p.L31L|ATF4_ENST00000404241.2_Silent_p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	31					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAGAAAGCCTAGGTCTCTTAG	0.572000													32	97					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77758020	77758020	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:77758020A>G	ENST00000310942.4	+	5	882	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	260					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGCACTACATGAACCGGAT	0.657000													5	108					0	0	1	0	0
IGKV1-12	0	broad.mit.edu	37	2	89339991	89339991	+	RNA	SNP	G	G	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:89339991G>C	ENST00000480492.1	-	0	127																											ATGGAGACTGGGTCATCTGGA	0.463000													51	363					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38960079	38960079	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:38960079C>T	ENST00000355481.4	+	27	3822	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1231C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1231	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAACATGCAGCGCCCAGTCAC	0.577000													8	216					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	47000209	47000209	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:47000209C>T	ENST00000374314.4	+	1	2284	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GPRIN2_ENST00000374317.1_Silent_p.S443S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	443										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCATGCAGTCCCTGCGGCGCC	0.706000													3	20					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772975	6772975	+	Translation_Start_Site	SNP	C	C	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:6772975C>A	ENST00000539284.1	+	0	7				VAV1_ENST00000602142.1_Missense_Mutation_p.H53N|VAV1_ENST00000596764.1_Missense_Mutation_p.H53N|VAV1_ENST00000304076.2_Missense_Mutation_p.H53N			P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657000													5	161					8.12818e-05	8.6362e-05	1	1	0
OR52E8	390079	broad.mit.edu	37	11	5878305	5878305	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:5878305A>G	ENST00000537935.1	-	1	659	c.628T>C	c.(628-630)Tct>Cct	p.S210P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAAGAGAGATATGTTGCCA	0.478000													5	106					0	0	1	0	0
PCDHB16	0	broad.mit.edu	37	5	140563340	140563340	+	Silent	SNP	C	C	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:140563340C>A	ENST00000361016.2	+	1	2361	c.1206C>A	c.(1204-1206)acC>acA	p.T402T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		402	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCTTGGTAACGG	0.473000													21	91					8.10497e-08	9.03505e-08	1	1	0
KLB	152831	broad.mit.edu	37	4	39448817	39448817	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448817A>T	ENST00000257408.4	+	4	2568	c.2471A>T	c.(2470-2472)aAc>aTc	p.N824I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCGCGCTCAACCACTTCACC	0.657000													9	89					0	0	1	0	0
LILRB1	0	broad.mit.edu	37	19	55148088	55148088	+	Silent	SNP	G	G	A	rs140346115	by1000genomes	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:55148088G>A	ENST00000396331.1	+	15	2148	c.1791G>A	c.(1789-1791)agG>agA	p.R597R	LILRB1_ENST00000396321.2_Silent_p.R597R|LILRB1_ENST00000418536.2_Silent_p.R581R|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.R581R|LILRB1_ENST00000396315.1_Silent_p.R599R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.R648R|LILRB1_ENST00000396327.3_Silent_p.R598R|LILRB1_ENST00000434867.2_Silent_p.R597R|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Silent_p.R599R|LILRB1_ENST00000396332.4_Silent_p.R598R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	597					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AAGAGGACAGGCAGATGGACA	0.607000										HNSCC(37;0.09)			3	44					0	0	1	0	0
PLAC8	51316	broad.mit.edu	37	4	84015882	84015882	+	Silent	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:84015882G>T	ENST00000426923.2	-	4	384	c.306C>A	c.(304-306)atC>atA	p.I102I	PLAC8_ENST00000505406.1_Silent_p.I102I|PLAC8_ENST00000311507.4_Silent_p.I102I|PLAC8_ENST00000509973.1_Silent_p.I45I|PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000411416.2_Silent_p.I102I	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	102										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TATCTCTCTTGATTTGGCAAA	0.353000													5	44					0.0215528	0.0218744	1	1	0
MAP3K10	4294	broad.mit.edu	37	19	40715127	40715127	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:40715127G>A	ENST00000253055.3	+	6	1840		c.e6+1			NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCATTCGCCGTGAGTATCTC	0.552000													4	98					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023064	18023064	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:18023064C>T	ENST00000205890.5	+	2	1288	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	317	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCATATGCGCCCCCGTCG	0.602000													4	138					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587708	43587708	+	RNA	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:43587708A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							AACAACCACCATCTCCAAATC	0.348000													6	89					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261374	6261374	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:6261374T>G	ENST00000379936.2	+	4	465	c.350T>G	c.(349-351)tTg>tGg	p.L117W	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	117					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTCTTCTTGGACCTGGCT	0.632000													97	238					0	0	1	0	0
EZH2	0	broad.mit.edu	37	7	148544345	148544345	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:148544345G>A	ENST00000320356.2	-	2	167	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	EZH2_ENST00000460911.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000476773.1_Missense_Mutation_p.R16W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	16	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACGCTTCCGCCAACAAACT	0.388000			Mis		DLBCL								5	351					0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:4832521G>A	ENST00000378191.4	+	4	1480	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	367	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587000													5	56					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10474068	10474068	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:10474068G>T	ENST00000382483.3	-	3	862	c.639C>A	c.(637-639)agC>agA	p.S213R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	213					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACAGAGGGGCTGTGCAGCA	0.632000													14	45					4.3838e-07	4.80804e-07	1	1	0
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502000													4	159					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109715	145109715	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:145109715C>T	ENST00000426825.1	-	18	2592	c.2511_splice	c.e18+1	p.P837_splice	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	837							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACCCCTCACCGGTGTGATAA	0.672000													14	52					0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43727084	43727084	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:43727084A>T	ENST00000306117.1	-	4	725	c.329T>A	c.(328-330)tTc>tAc	p.F110Y	KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCTCAGGAAGAAGCCCGGGTG	0.692000													5	13					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307910	117307910	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:117307910G>A	ENST00000321322.6	-	26	4829	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1550					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCTCATGCGCAGCTCGTAC	0.647000													4	198					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448818	39448818	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448818C>T	ENST00000257408.4	+	4	2569	c.2472C>T	c.(2470-2472)aaC>aaT	p.N824N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCGCGCTCAACCACTTCACCA	0.652000													10	89					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:47696688T>C	ENST00000393331.3	-	6	730	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403000										Prostate(2;0.17)			20	60					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442593	20442593	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:20442593G>A	ENST00000331849.4	+	10	1405	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	420					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGGGAATGTTGCCGTCCGTAT	0.512000													9	162					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166698	100166698	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr12:100166698A>G	ENST00000547776.2	-	8	1128		c.e8+1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCCTTACTTACTACACTCTG	0.433000													7	47					0	0	1	0	0
DNM1P34	0	broad.mit.edu	37	15	75594029	75594029	+	RNA	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr15:75594029A>G	ENST00000567292.1	-	0	540																											TCTTGTCCCCATGCAAGTACA	0.577000													8	7					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47889325	47889325	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:47889325T>C	ENST00000446256.2	+	15	2620	c.2048T>C	c.(2047-2049)gTt>gCt	p.V683A	DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|DHX30_ENST00000445061.1_Missense_Mutation_p.V722A|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	722	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGCCTCCAGTTGGGGTGCGC	0.527000													4	63					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152469436	152469436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:152469436C>T	ENST00000367255.5	-	137	25321	c.24720G>A	c.(24718-24720)tgG>tgA	p.W8240*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8240					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	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)		AGCGGTCGTGCCAGTGCAGGT	0.617000										HNSCC(10;0.0054)			9	86					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40843951	40843951	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:40843951G>T	ENST00000264638.4	+	16	2689	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	824	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTCCTAGAGAATATGGGGG	0.607000													6	370					8.12818e-05	8.6362e-05	1	1	0
MAZ	4150	broad.mit.edu	37	16	29820948	29820948	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:29820948T>A	ENST00000219782.6	+	5	1473	c.1367T>A	c.(1366-1368)cTg>cAg	p.L456Q	MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	194					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTGCAAGCTGTGCAGCGTG	0.711000													13	35					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968222	64968222	+	Silent	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:64968222A>G	ENST00000399262.2	-	10	3425	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	JMJD1C_ENST00000402544.1_Silent_p.D850D|JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000542921.1_Silent_p.D887D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1069					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCGTTCTACATCCATATCTT	0.388000													70	167					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033092	117033092	+	Missense_Mutation	SNP	C	C	T	rs151170440		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:117033092C>T	ENST00000371876.1	-	6	4015	c.1594G>A	c.(1594-1596)Gct>Act	p.A532T	KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000262820.3_Missense_Mutation_p.A583T|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCGAAGACAGCGACCCCAACA	0.413000													4	117					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181726120	181726120	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:181726120G>A	ENST00000526775.1	+	29	4295	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1396H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					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						CGCAGCAACCGCATGGAGATG	0.488000													26	92					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624784	1624784	+	Splice_Site	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:1624784G>A	ENST00000421627.2	+	8	2182	c.2048_splice	c.e8+1	p.R683_splice		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGAGAAGCGGTAACTCAGC	0.582000													3	26					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156828373	156828373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:156828373G>A	ENST00000368195.3	-	1	437	c.41C>T	c.(40-42)cCt>cTt	p.P14L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	14					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATCACAGGCAGGCATGC	0.632000													17	77					0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514330	58514330	+	Silent	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:58514330C>T	ENST00000370996.3	-	1	1022	c.657G>A	c.(655-657)gcG>gcA	p.A219A	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	219	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACCGCGCCACCGCCTCGTGGG	0.687000													11	72					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141049577	141049577	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:141049577C>G	ENST00000239440.4	-	15	2226	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	721					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTGTTTTCCGATGCAAAC	0.587000													8	95					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92944268	92944268	+	Silent	SNP	T	T	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:92944268T>G	ENST00000370332.1	-	6	1285	c.967A>C	c.(967-969)Agg>Cgg	p.R323R	GFI1_ENST00000427103.1_Silent_p.R323R|GFI1_ENST00000294702.5_Silent_p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	323					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTGGATGACCTCTTGAAGCTC	0.517000													23	85					0	0	1	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100103	102100103	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:102100103C>T	ENST00000292566.3	-	2	308	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	90						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GTCCATGAGCCGCACCAACTC	0.627000													47	180					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85279651	85279651	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:85279651C>G	ENST00000440886.1	-	2	978	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	314					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTGGGTTCTCCTGAGAGAAG	0.547000													28	82					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824457	34824457	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:34824457A>C	ENST00000265109.3	+	15	2797	c.2510A>C	c.(2509-2511)aAt>aCt	p.N837T	RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T|RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000506376.1_Missense_Mutation_p.N829T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	837						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGGAAAATATTCAGACT	0.383000													31	97					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													4	113					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41029534	41029534	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:41029534G>A	ENST00000352632.3	+	17	3931	c.3845G>A	c.(3844-3846)cGg>cAg	p.R1282Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1282					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGACCCGGCTGCTGGAG	0.657000													4	80					0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406449	38406449	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:38406449G>T	ENST00000351773.3	+	8	1200	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124W	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATAAAAATGGGAACAGCTT	0.333000													13	170					0.0135373	0.0139475	1	1	0
LAMC1	3915	broad.mit.edu	37	1	183085994	183085994	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:183085994C>G	ENST00000258341.4	+	8	1777	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	507					axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACAAACGCTGTTGGCTAC	0.403000													15	101					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													3	28					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82836888	82836888	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:82836888C>T	ENST00000265077.3	+	8	8631	c.8066C>T	c.(8065-8067)aCg>aTg	p.T2689M	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2689	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTACTTCCCACGGCAACATCC	0.438000													23	112					0	0	1	0	0
LIME1	54923	broad.mit.edu	37	20	62370021	62370021	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:62370021A>G	ENST00000309546.3	+	6	743	c.656A>G	c.(655-657)gAc>gGc	p.D219G	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACCCGCTGGACCCCAAGGGC	0.667000													10	45					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069967	161069967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:161069967G>A	ENST00000368011.4	+	4	1145	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	335										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTTTGGTGAGGATGGCAGGAC	0.502000													43	124					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51613289	51613289	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:51613289A>G	ENST00000371117.3	-	58	9400	c.9125T>C	c.(9124-9126)aTt>aCt	p.I3042T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAACACAATATTGTCATT	0.498000													26	79					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448000													4	165					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511506	242511506	+	Silent	SNP	G	G	A			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:242511506G>A	ENST00000427495.1	-	2	167	c.42C>T	c.(40-42)tgC>tgT	p.C14C	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Silent_p.C76C	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	76						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCAAAGCAGCACACCAGGG	0.453000													4	89					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471131	56471131	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56471131C>G	ENST00000370754.5	-	39	8195	c.8196G>C	c.(8194-8196)tgG>tgC	p.W2732C	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.W2554C|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.W2554C|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.W2228C|DST_ENST00000370769.4_Missense_Mutation_p.W2554C			Q03001	DYST_HUMAN	dystonin	2554					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTCCTCTCCAACTGCCAC	0.368000													6	26					0	0	1	0	0
AC018737.1	0	broad.mit.edu	37	2	122466739	122466739	+	RNA	DEL	G	G	-	rs6733674	by1000genomes	TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:122466739delG	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgtttttttttt	0.458													3	6	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187505689	187505689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:187505689delA	ENST00000261023.3	+	11	1225	c.951delA	c.(949-951)ggfs	p.G317fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	317					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACATTAATGGAGATGAGTAAG	0.289													2	4	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)del	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													9	138	---	---	---	---					
HMGB3P22	0	broad.mit.edu	37	5	179121146	179121152	+	RNA	DEL	AAAAAAA	AAAAAAA	-	rs10553251		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:179121146_179121152delAAAAAAA	ENST00000442010.2	+	0	253																											actccgtctcaaaaaaaaaaaaaaaaa	0.483													2	4	---	---	---	---					
CRTC1	23373	broad.mit.edu	37	19	18864349	18864349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:18864349delC	ENST00000338797.6	+	7	651	c.626delC	c.(625-627)tafs	p.S209fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S193fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	193					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453													102	349	---	---	---	---					
CACNA1I	8911	broad.mit.edu	37	22	40042647	40042647	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:40042647delA	ENST00000336649.4	+	10	1223	c.1223delA	c.(1222-1224)ggfs	p.E408fs	CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000402142.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	408					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCAACGGGAGCACCGGCTG	0.612													2	4	---	---	---	---					
