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
EPPK1	83481	broad.mit.edu	37	8	144944117	144944117	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:144944117C>A	ENST00000525985.1	-	2	3376	c.3305G>T	c.(3304-3306)tGc>tTc	p.C1102F				P58107	EPIPL_HUMAN	epiplakin 1	1102						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCCTGGGGCACTCCTCCAG	0.657000													12	19					2.27111e-07	2.75109e-07	0.013537	1	0
EPCAM	4072	broad.mit.edu	37	2	47602414	47602414	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:47602414C>A	ENST00000263735.4	+	4	825	c.467C>A	c.(466-468)cCt>cAt	p.P156H	EPCAM_ENST00000405271.1_Missense_Mutation_p.P184H	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	156					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						AGAGAAAAACCTTATGATAGT	0.348000													15	56					3.51602e-12	4.49056e-12	0.049695	1	0
LRRC42	115353	broad.mit.edu	37	1	54417937	54417937	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:54417937C>T	ENST00000371370.3	+	3	786	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	LRRC42_ENST00000319223.4_Missense_Mutation_p.L89F	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	89										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CGCCAAATCCCTCTTCAGCCT	0.483000													13	168					0	0	0.016723	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728598	20728598	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:20728598C>G	ENST00000427401.4	-	4	505	c.411G>C	c.(409-411)ttG>ttC	p.L137F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	137					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GAGTAGTTGTCAAATATTGGT	0.299000													8	47					0	0	0.038147	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803488	185803488	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:185803488T>A	ENST00000302277.6	+	4	3959	c.3365T>A	c.(3364-3366)tTt>tAt	p.F1122Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1122						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gcagGAACCTTTAAAGTGCTT	0.522000													7	70					0	0	0.069234	0	0
PRKCB	5579	broad.mit.edu	37	16	24192240	24192240	+	Silent	SNP	C	C	A	rs17847876		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:24192240C>A	ENST00000303531.7	+	13	1676	c.1524C>A	c.(1522-1524)atC>atA	p.I508I	PRKCB_ENST00000321728.7_Silent_p.I508I	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	508	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.I508I(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGACTACATCGCCCCCGAGG	0.542000													15	130					7.93312e-07	9.46337e-07	0.020292	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													5	57					0	0	0.014758	0	0
CAPN9	10753	broad.mit.edu	37	1	230898463	230898463	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:230898463G>A	ENST00000354537.1	+	4	549	c.467G>A	c.(466-468)cGc>cAc	p.R156H	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.R93H|CAPN9_ENST00000271971.2_Missense_Mutation_p.R156H	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	156	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TTCAGGGACCGCTTGGTTTTC	0.577000													28	87					0	0	0.030593	0	0
NUP98	4928	broad.mit.edu	37	11	3716751	3716751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:3716751C>T	ENST00000324932.7	-	26	4515	c.4095G>A	c.(4093-4095)tgG>tgA	p.W1365*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.W1365*|NUP98_ENST00000488828.1_5'UTR|NUP98_ENST00000355260.3_Nonsense_Mutation_p.W1365*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1382					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GGAGCTGATGCCAGTCCACCA	0.483000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								4	187					0	0	0.009096	0	0
RWDD2B	10069	broad.mit.edu	37	21	30380094	30380094	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:30380094T>A	ENST00000493196.1	-	4	813	c.713A>T	c.(712-714)gAa>gTa	p.E238V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	238										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TGACCAGAATTCTTCACAGGC	0.413000													37	96					0	0	0.092188	0	0
USP53	54532	broad.mit.edu	37	4	120190943	120190943	+	Silent	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:120190943A>G	ENST00000450251.1	+	11	1930	c.1386A>G	c.(1384-1386)caA>caG	p.Q462Q	USP53_ENST00000274030.6_Silent_p.Q462Q			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	462					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTTCTTCACAAAGGAAAGATT	0.318000													9	163					0	0	0.047766	0	0
RHOQ	23433	broad.mit.edu	37	2	46803235	46803235	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:46803235G>A	ENST00000238738.4	+	3	530	c.211G>A	c.(211-213)Gac>Aac	p.D71N	RP11-417F21.1_ENST00000506009.2_RNA|RHOQ_ENST00000465198.1_3'UTR	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	71					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GGAAGACTATGACCGTCTGAG	0.373000													11	113					0	0	0.069234	0	0
ACTG2	72	broad.mit.edu	37	2	74129609	74129609	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:74129609G>A	ENST00000409624.1	+	4	892	c.249G>A	c.(247-249)atG>atA	p.M83I	ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000345517.3_Missense_Mutation_p.M83I|ACTG2_ENST00000409918.1_Missense_Mutation_p.M83I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	83					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						GGGATGACATGGAGAAGGTAT	0.488000													11	61					0	0	0.069234	0	0
ERN1	2081	broad.mit.edu	37	17	62144284	62144284	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:62144284G>C	ENST00000433197.2	-	8	684	c.589C>G	c.(589-591)Cac>Gac	p.H197D		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	197					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GACACAAAGTGGGACATCTCT	0.502000													3	39					0	0	0.009096	0	0
ADARB2	105	broad.mit.edu	37	10	1405308	1405308	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:1405308G>A	ENST00000381312.1	-	3	1317	c.992C>T	c.(991-993)gCc>gTc	p.A331V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	331	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGCCTGCGCGGCCTGACCCCG	0.751000													3	21					0	0	0.009096	0	0
KIFC1	3833	broad.mit.edu	37	6	33371721	33371721	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:33371721C>T	ENST00000428849.2	+	6	1021	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	191					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						ACTGGAGGGGCATTTAGCCAA	0.597000													43	170					0	0	0.042209	0	0
LIFR	3977	broad.mit.edu	37	5	38510706	38510706	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:38510706T>C	ENST00000263409.4	-	7	1013	c.851A>G	c.(850-852)cAt>cGt	p.H284R	LIFR_ENST00000453190.2_Missense_Mutation_p.H284R|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	284					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAGTTTGTATGGCCAATCAG	0.368000			T	PLAG1	salivary adenoma								6	117					0	0	0.029380	0	0
ZNF772	400720	broad.mit.edu	37	19	57985605	57985605	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57985605C>T	ENST00000343280.4	-	5	767	c.507G>A	c.(505-507)caG>caA	p.Q169Q	ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.Q128Q|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Silent_p.Q57Q	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		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;0.026)|Lung(386;0.174)		TGTATGGTTTCTGCCCTGGGT	0.507000													12	176					0	0	0.016723	0	0
CCDC172	374355	broad.mit.edu	37	10	118100359	118100359	+	Silent	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:118100359C>A	ENST00000333254.3	+	4	530	c.279C>A	c.(277-279)acC>acA	p.T93T	CCDC172_ENST00000497093.1_3'UTR	NM_198515.2	NP_940917.1			coiled-coil domain containing 172																		TTCTTCAAACCTTTGTAAGTT	0.284000													11	118					0.00010058	0.000114185	0.013537	1	0
RASGRP3	25780	broad.mit.edu	37	2	33784037	33784037	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:33784037C>T	ENST00000403687.3	+	17	2744	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000402538.3_Silent_p.D668D|RASGRP3_ENST00000407811.1_Silent_p.D667D	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	668					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGTTGTAGACCGGGGCACGG	0.483000													9	36					0	0	0.058154	0	0
OR52E2	119678	broad.mit.edu	37	11	5080058	5080058	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:5080058C>T	ENST00000321522.2	-	1	799	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGGCACATTTCGGCCAAAGCG	0.478000													4	101					0	0	0.029380	0	0
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:21476689T>C	ENST00000356929.3	-	4	1276	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363000													5	139					0	0	0.021553	0	0
CAMTA1	23261	broad.mit.edu	37	1	7805922	7805922	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:7805922C>G	ENST00000303635.7	+	18	4595	c.4388C>G	c.(4387-4389)cCt>cGt	p.P1463R	CAMTA1_ENST00000439411.2_Intron|CAMTA1_ENST00000476864.1_Missense_Mutation_p.P27R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TATAACGAGCCTCTAACCCCT	0.458000			T	WWTR1	epitheliod hemangioendothelioma								40	247					0	0	0.092188	0	0
CDRT1	374286	broad.mit.edu	37	17	15522822	15522822	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:15522822T>C	ENST00000395906.3	-	1	4	c.5A>G	c.(4-6)gAa>gGa	p.E2G	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	2										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCCAGGTTTTCCATGATCCT	0.498000													10	486					0	0	0.080935	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168489	25168489	+	RNA	SNP	G	G	A	rs142860004	by1000genomes	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:25168489G>A	ENST00000453498.1	+	0	1161																											TGAAAGTGCAGTTTTTCTCTT	0.363000													3	50					0	0	0.004672	0	0
NARS2	79731	broad.mit.edu	37	11	78176976	78176976	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:78176976T>C	ENST00000281038.5	-	11	1485	c.1110A>G	c.(1108-1110)ccA>ccG	p.P370P	NARS2_ENST00000528850.1_Silent_p.P143P	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	370					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGAGTGTTAATGGATAATTAA	0.428000													10	120					0	0	0.069234	0	0
DST	667	broad.mit.edu	37	6	56480608	56480608	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:56480608T>C	ENST00000370765.6	-	24	7764	c.7657A>G	c.(7657-7659)Atc>Gtc	p.I2553V	DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1849					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)			AAACATCGGATTCCCATTTCC	0.403000													35	194					0	0	0.069456	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344239	38344239	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:38344239A>T	ENST00000374618.3	+	5	1365	c.1187A>T	c.(1186-1188)cAt>cTt	p.H396L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H395L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H395L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H402L|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCTTTAGCCATAAGTCAGCC	0.423000													11	138					0	0	0.080935	0	0
MS4A6A	64231	broad.mit.edu	37	11	59943062	59943062	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:59943062C>T	ENST00000528851.1	-	5	502	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MS4A6A_ENST00000420732.2_Missense_Mutation_p.S121N|MS4A6A_ENST00000529054.1_Missense_Mutation_p.S149N|MS4A6A_ENST00000426738.2_Missense_Mutation_p.S76N|MS4A6A_ENST00000530839.1_Missense_Mutation_p.S121N|MS4A6A_ENST00000533023.1_Missense_Mutation_p.S57N|MS4A6A_ENST00000323961.3_Missense_Mutation_p.S121N|MS4A6A_ENST00000412309.2_Missense_Mutation_p.S149N			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	121						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCAGAATGCTTCCAACCAG	0.438000													35	84					0	0	0.074837	0	0
RHBDF1	64285	broad.mit.edu	37	16	110495	110495	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:110495C>T	ENST00000262316.6	-	12	1742	c.1600G>A	c.(1600-1602)Gcc>Acc	p.A534T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	534					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTCTGGGGCGCTGGGATGG	0.632000													11	113					0	0	0.016723	0	0
ENOX1	55068	broad.mit.edu	37	13	43918857	43918857	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:43918857C>T	ENST00000261488.6	-	9	1430	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	ENOX1_ENST00000412891.1_Missense_Mutation_p.V285M|ENOX1_ENST00000540032.1_Missense_Mutation_p.V98M	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	285					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GAAAGCAGCACTGTGATAGCC	0.468000													8	85					0	0	0.038147	0	0
RCC1	1104	broad.mit.edu	37	1	28862414	28862414	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:28862414G>A	ENST00000373833.6	+	10	978	c.693G>A	c.(691-693)ctG>ctA	p.L231L	RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Silent_p.L262L|RCC1_ENST00000373832.1_Silent_p.L231L|RCC1_ENST00000398958.2_Silent_p.L231L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	231					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTGATGCTGAAATCCAGGG	0.562000													24	261					0	0	0.034045	0	0
GABRA6	2559	broad.mit.edu	37	5	161116008	161116008	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:161116008G>A	ENST00000523217.1	+	4	491	c.249G>A	c.(247-249)aaG>aaA	p.K83K	GABRA6_ENST00000274545.5_Silent_p.K93K|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	93					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)	AGAGGTTGAAGTTTGGGGGGC	0.408000										TCGA Ovarian(5;0.080)			15	190					0	0	0.038395	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802746	159802746	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159802746T>A	ENST00000289707.5	+	3	597	c.448T>A	c.(448-450)Ttg>Atg	p.L150M	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.L41M	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	150	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCAGGTTTTCTTGTCCTGTTG	0.532000													15	148					0	0	0.024245	0	0
RASGRF1	5923	broad.mit.edu	37	15	79254558	79254558	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:79254558G>T	ENST00000419573.3	-	28	4024	c.3750C>A	c.(3748-3750)gaC>gaA	p.D1250E	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234E|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466E	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1252	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CAAAAGATTGGTCCAGTAAAT	0.463000													5	21					1.06961e-07	1.30238e-07	0.038147	1	0
COL1A2	1278	broad.mit.edu	37	7	94038715	94038715	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:94038715G>A	ENST00000297268.6	+	17	1345	c.874G>A	c.(874-876)Ggc>Agc	p.G292S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	292					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AGGCCTCTCCGGCCCCGTTGG	0.498000										HNSCC(75;0.22)			7	103					0	0	0.020292	0	0
INTS5	80789	broad.mit.edu	37	11	62415548	62415548	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:62415548G>A	ENST00000330574.2	-	2	2056	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	668					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GACAGGCTGAGGCCACACCTG	0.612000													4	71					0	0	0.009096	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151089868	151089868	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:151089868T>G	ENST00000367328.1	+	4	818	c.506T>G	c.(505-507)tTc>tGc	p.F169C	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F169C	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	169	DH.				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)		ATCTACCACTTCAATAGGTAA	0.393000													7	46					0	0	0.029380	0	0
SULT1E1	6783	broad.mit.edu	37	4	70713474	70713474	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:70713474C>G	ENST00000226444.3	-	6	645	c.533G>C	c.(532-534)tGg>tCg	p.W178S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	178					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTTTCCCACCAAGATTTTAC	0.373000													50	129					0	0	0.048971	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292705	4292705	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:4292705C>A	ENST00000301272.2	-	5	785	c.740G>T	c.(739-741)tGc>tTc	p.C247F	TMIGD2_ENST00000595645.1_Missense_Mutation_p.C243F|TMIGD2_ENST00000600349.1_Missense_Mutation_p.C75F|TMIGD2_ENST00000600114.1_Missense_Mutation_p.C127F	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	247	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		ggggctggggcagggtctcgg	0.672000													7	88					0.00307968	0.00336616	0.038147	1	0
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:1009828C>A	ENST00000537687.1	+	26	8058	c.7415C>A	c.(7414-7416)cCa>cAa	p.P2472Q	WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q|WNK1_ENST00000315939.6_Missense_Mutation_p.P2212Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473000													7	530					0.000157383	0.000177813	0.038147	1	0
UBAP2L	9898	broad.mit.edu	37	1	154199771	154199771	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:154199771A>C	ENST00000428931.1	+	3	271	c.104A>C	c.(103-105)cAa>cCa	p.Q35P	UBAP2L_ENST00000271877.7_Missense_Mutation_p.Q35P|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Q35P|UBAP2L_ENST00000361546.2_Missense_Mutation_p.Q35P	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	35					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCAGAACAAATTAGACTT	0.418000													17	187					0	0	0.033300	0	0
BST1	683	broad.mit.edu	37	4	15716972	15716972	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:15716972A>G	ENST00000382346.3	+	6	693	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	BST1_ENST00000265016.4_Missense_Mutation_p.Y200C			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	200					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ACAGGAGCCTATCCCATCAAA	0.368000													13	76					0	0	0.020292	0	0
MAN2A1	4124	broad.mit.edu	37	5	109153015	109153015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:109153015C>T	ENST00000261483.4	+	13	3037	c.1985C>T	c.(1984-1986)tCg>tTg	p.S662L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	662					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACCGAATCTCGTTGGTCTCA	0.413000													15	183					0	0	0.028581	0	0
PRR23A	729627	broad.mit.edu	37	3	138724783	138724783	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:138724783C>T	ENST00000383163.2	-	1	327	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	110										endometrium(3)|kidney(1)|lung(7)	11						CCTGAGCGTTCGTCGACAGAG	0.617000													6	42					0	0	0.021553	0	0
TRIOBP	11078	broad.mit.edu	37	22	38120563	38120563	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr22:38120563T>C	ENST00000406386.3	+	7	2255	c.2000T>C	c.(1999-2001)aTc>aCc	p.I667T	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	667					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AACAGAACCATCCAACAAGAG	0.572000													3	96					0	0	0.004672	0	0
BCL10	8915	broad.mit.edu	37	1	85733597	85733597	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:85733597C>T	ENST00000370580.1	-	3	1152	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	139					apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway	CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTACTCTCATCTGAATTTGAT	0.388000			T	IGH@	MALT								28	184					0	0	0.050027	0	0
AES	166	broad.mit.edu	37	19	3055690	3055690	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3055690G>C	ENST00000221561.8	-	5	649	c.470C>G	c.(469-471)gCc>gGc	p.A157G	AES_ENST00000586839.1_Missense_Mutation_p.A34G|AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Missense_Mutation_p.A90G	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	90	Gly/Pro-rich (GP domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACCTGGGCACAAATCCC	0.637000													9	114					0	0	0.013537	0	0
GRN	2896	broad.mit.edu	37	17	42428419	42428419	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:42428419C>T	ENST00000053867.3	+	8	785	c.723C>T	c.(721-723)tcC>tcT	p.S241S	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	241					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTGCTGCTCCGATCACCTGC	0.607000											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	116					0	0	0.029380	0	0
TJP3	27134	broad.mit.edu	37	19	3735583	3735583	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:3735583C>T	ENST00000541714.2	+	9	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TJP3_ENST00000382008.3_Missense_Mutation_p.R350W|TJP3_ENST00000589378.1_Missense_Mutation_p.R345W|TJP3_ENST00000587686.1_Missense_Mutation_p.R355W|TJP3_ENST00000262968.9_Missense_Mutation_p.R369W|TJP3_ENST00000539908.2_Missense_Mutation_p.R300W	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	350						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGCTTCGGCGGGAAAGTTC	0.552000													21	206					0	0	0.091800	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28958801	28958801	+	RNA	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:28958801A>T	ENST00000412831.1	+	0	29				SMURF2P1_ENST00000578265.1_RNA																							GGAATCCAGAAGGAGCATTCA	0.458000													17	198					0	0	0.043863	0	0
LRP1B	53353	broad.mit.edu	37	2	141081587	141081587	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:141081587C>T	ENST00000389484.3	-	81	13360	c.12389G>A	c.(12388-12390)gGa>gAa	p.G4130E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4130					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCCTGCTCCATATATATA	0.299000										TSP Lung(27;0.18)			8	150					0	0	0.038147	0	0
NCEH1	57552	broad.mit.edu	37	3	172365794	172365794	+	Silent	SNP	G	G	C	rs141870427	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:172365794G>C	ENST00000475381.1	-	2	482	c.249C>G	c.(247-249)acC>acG	p.T83T	NCEH1_ENST00000538775.1_Silent_p.T115T|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000273512.3_Silent_p.T115T			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	83					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGTCTGTGTCGGTCACCTTCA	0.512000													4	124					0	0	0.014758	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8436298	8436298	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:8436298C>A	ENST00000301455.2	+	6	1102	c.931C>A	c.(931-933)Cag>Aag	p.Q311K	ANGPTL4_ENST00000541807.1_Missense_Mutation_p.Q144K|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.Q273K	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	311	Fibrinogen C-terminal.				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CGTGGCCGGCCAGCTGGGCGC	0.672000													6	55					8.12818e-05	9.27244e-05	0.029380	1	0
MTHFS	10588	broad.mit.edu	37	15	80181668	80181668	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:80181668G>A	ENST00000258874.3	-	2	206	c.146C>T	c.(145-147)tCc>tTc	p.S49F	ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.S25F	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	49					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTCTTTTGGACTTTTGATA	0.378000													8	179					0	0	0.058154	0	0
SIAH1	6477	broad.mit.edu	37	16	48399363	48399363	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:48399363G>A	ENST00000356721.3	-	1	449	c.26C>T	c.(25-27)tCt>tTt	p.S9F	SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GGAGTACAGAGAAGGTGGAGT	0.517000													13	38					0	0	0.024245	0	0
SEBOX	645832	broad.mit.edu	37	17	26691847	26691847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26691847C>T	ENST00000536498.1	-	9	1634	c.237G>A	c.(235-237)tgG>tgA	p.W79*	SARM1_ENST00000379061.4_Intron|SEBOX_ENST00000431468.1_Nonsense_Mutation_p.W80*|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_Nonsense_Mutation_p.W79*|TMEM199_ENST00000509083.1_Intron			Q9HB31	SEBOX_HUMAN	SEBOX homeobox	80					cell differentiation|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(1)|skin(1)	5	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GGCAAGTGACCCAGGCCAGGT	0.607000													4	53					0	0	0.009096	0	0
CSHL1	1444	broad.mit.edu	37	17	61987866	61987866	+	Translation_Start_Site	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:61987866A>C	ENST00000450719.3	-	0	175				CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000392824.4_Missense_Mutation_p.I143M|CSHL1_ENST00000309894.5_Missense_Mutation_p.S74A|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_De_novo_Start_OutOfFrame|CSHL1_ENST00000259003.10_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGCAGGAATGAATACTTCTGT	0.507000													15	248					0	0	0.038395	0	0
ENTPD6	955	broad.mit.edu	37	20	25205950	25205950	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25205950G>T	ENST00000433259.2	+	13	1420	c.1294G>T	c.(1294-1296)Gaa>Taa	p.E432*	ENTPD6_ENST00000376652.4_Silent_p.L451L|ENTPD6_ENST00000360031.2_Silent_p.L450L|ENTPD6_ENST00000354989.5_Silent_p.L434L|ENTPD6_ENST00000485936.1_3'UTR			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	86						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCAAAGTGCTGAAGGTAAGGG	0.612000													9	41					0.000673444	0.000746506	0.069234	1	0
PLAA	9373	broad.mit.edu	37	9	26913936	26913936	+	Missense_Mutation	SNP	C	C	A	rs150012469		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:26913936C>A	ENST00000397292.3	-	11	1913	c.1496G>T	c.(1495-1497)cGt>cTt	p.R499L	PLAA_ENST00000520884.1_Missense_Mutation_p.R499L	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	499					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TGGTACATAACGACCAGCACC	0.353000													10	116					0.010729	0.0115129	0.080935	1	0
DHX36	170506	broad.mit.edu	37	3	154022955	154022955	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:154022955C>T	ENST00000496811.1	-	7	976	c.896G>A	c.(895-897)cGg>cAg	p.R299Q	DHX36_ENST00000329463.5_Missense_Mutation_p.R299Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R299Q|DHX36_ENST00000544526.1_Missense_Mutation_p.R299Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	299	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCTTGGCAACCGACTGTGAAT	0.353000													4	79					0	0	0.009096	0	0
DNAJB1	3337	broad.mit.edu	37	19	14627517	14627517	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:14627517T>C	ENST00000254322.2	-	2	623	c.553A>G	c.(553-555)Atc>Gtc	p.I185V	DNAJB1_ENST00000396969.4_Missense_Mutation_p.I85V	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	185					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGTGGGAGATTTTCATCTTC	0.502000													30	341					0	0	0.054565	0	0
KIF16B	55614	broad.mit.edu	37	20	16359952	16359952	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:16359952C>T	ENST00000354981.2	-	19	2852	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E125K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E899K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E899K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	899	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGCCTGTACTCCACTGGCTTT	0.413000													16	217					0	0	0.028581	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25168501	25168501	+	RNA	SNP	G	G	A	rs4770716	by1000genomes	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:25168501G>A	ENST00000453498.1	+	0	1173																											TTTTCTCTTCGGTGAGTAATC	0.388000													3	50					0	0	0.004672	0	0
AKAP9	10142	broad.mit.edu	37	7	91730273	91730273	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:91730273A>C	ENST00000359028.2	+	45	11237	c.11012A>C	c.(11011-11013)aAa>aCa	p.K3671T	AKAP9_ENST00000358100.2_Missense_Mutation_p.K3617T|AKAP9_ENST00000356239.3_Missense_Mutation_p.K3667T			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3671					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATCTTTGAAAAGGGCAGAG	0.388000			T	BRAF	papillary thyroid								18	98					0	0	0.049695	0	0
BLZF1	8548	broad.mit.edu	37	1	169349768	169349768	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:169349768A>T	ENST00000367808.3	+	5	1141	c.718A>T	c.(718-720)Aac>Tac	p.N240Y	BLZF1_ENST00000329281.2_Missense_Mutation_p.N240Y			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	240					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ACAGCGTCAAAACCGTGATGC	0.393000													7	106					0	0	0.029380	0	0
SEC14L3	266629	broad.mit.edu	37	22	30858091	30858091	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr22:30858091G>C	ENST00000403066.1	-	10	859	c.576C>G	c.(574-576)aaC>aaG	p.N192K	SEC14L3_ENST00000415957.2_Missense_Mutation_p.N192K|SEC14L3_ENST00000540910.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000402286.1_Missense_Mutation_p.N174K|SEC14L3_ENST00000401751.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000539629.1_Missense_Mutation_p.N192K|SEC14L3_ENST00000215812.4_Missense_Mutation_p.N251K			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	251	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AACATTTGGGGTTCCCATCTG	0.498000													8	37					0	0	0.047766	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120352147	120352147	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:120352147C>T	ENST00000397843.2	+	39	4582	c.4416C>T	c.(4414-4416)ccC>ccT	p.P1472P	ARHGEF12_ENST00000356641.3_Silent_p.P1453P|ARHGEF12_ENST00000532993.1_Silent_p.P1369P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1472					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATTCACCCCCGAATTTCTGG	0.532000			T	MLL	AML								6	95					0	0	0.021553	0	0
EYA1	2138	broad.mit.edu	37	8	72184055	72184055	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:72184055T>G	ENST00000340726.3	-	10	1543	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	EYA1_ENST00000388743.2_Missense_Mutation_p.K301Q|EYA1_ENST00000388742.4_Missense_Mutation_p.K302Q|EYA1_ENST00000303824.7_Missense_Mutation_p.K296Q|EYA1_ENST00000388741.2_Missense_Mutation_p.K268Q|EYA1_ENST00000419131.1_Missense_Mutation_p.K297Q|EYA1_ENST00000388740.3_Missense_Mutation_p.K269Q	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	302					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCACGTGATTTCCCATCTGAA	0.468000													33	419					0	0	0.041601	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972591	110972591	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:110972591C>A	ENST00000394607.3	-	5	864	c.701G>T	c.(700-702)tGg>tTg	p.W234L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.W234L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	234					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		GAGTGAGGACCAGAAGATGTT	0.473000													13	152					0.00185496	0.00203699	0.016723	1	0
TNPO3	23534	broad.mit.edu	37	7	128655071	128655071	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:128655071C>A	ENST00000393245.1	-	4	887	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	TNPO3_ENST00000265388.5_Missense_Mutation_p.D172Y|TNPO3_ENST00000482320.1_Missense_Mutation_p.D106Y|TNPO3_ENST00000471166.1_Missense_Mutation_p.D172Y|TNPO3_ENST00000471234.1_Missense_Mutation_p.D172Y	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	172					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAGGCCAAATCTTCTATAATT	0.393000													12	118					7.93312e-07	9.46337e-07	0.020292	1	0
SIAE	54414	broad.mit.edu	37	11	124524555	124524555	+	Silent	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:124524555G>C	ENST00000263593.3	-	4	712	c.540C>G	c.(538-540)acC>acG	p.T180T	SIAE_ENST00000545756.1_Silent_p.T145T			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	180						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		ACATACCTGAGGTGGGCTTAG	0.483000													21	234					0	0	0.083992	0	0
PTPRT	11122	broad.mit.edu	37	20	40739003	40739003	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:40739003G>A	ENST00000373198.3	-	24	3525	c.3290C>T	c.(3289-3291)cCg>cTg	p.P1097L	PTPRT_ENST00000373201.1_Missense_Mutation_p.P1065L|PTPRT_ENST00000373187.1_Missense_Mutation_p.P1075L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1085L|PTPRT_ENST00000356100.2_Missense_Mutation_p.P1084L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1074L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1078L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1075	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCAGCTTCCGGGGGGTTGAG	0.627000													22	72					0	0	0.091800	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806357	97806357	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:97806357G>T	ENST00000358642.2	+	1	341	c.341G>T	c.(340-342)tGc>tTc	p.C114F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACTACAGAATGCTTCCTCCTG	0.448000													23	380					9.62636e-23	1.28534e-22	0.069288	1	0
HOXB6	3216	broad.mit.edu	37	17	46673816	46673816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46673816G>A	ENST00000484302.2	-	3	1256	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB6_ENST00000225648.3_Nonsense_Mutation_p.Q212*|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA			P17509	HXB6_HUMAN	homeobox B6	212					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCACTGAGCTGAGACGCGCTG	0.602000													7	391					0	0	0.038147	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926168	8926168	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:8926168T>C	ENST00000357529.3	+	7	2211	c.949T>C	c.(949-951)Tcc>Ccc	p.S317P	RIMKLB_ENST00000299673.5_Intron|RIMKLB_ENST00000538135.1_Missense_Mutation_p.S317P|RIMKLB_ENST00000535829.1_Missense_Mutation_p.S317P	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	317					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCGGCGTATGTCCCTGCTCTC	0.562000													29	108					0	0	0.041601	0	0
USH2A	7399	broad.mit.edu	37	1	216348688	216348688	+	Silent	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:216348688A>T	ENST00000366943.2	-	21	4919	c.4533T>A	c.(4531-4533)gcT>gcA	p.A1511A	USH2A_ENST00000307340.3_Silent_p.A1511A|USH2A_ENST00000366942.3_Silent_p.A1511A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1511					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTCATCAGAGCTGGTAGAG	0.443000										HNSCC(13;0.011)			7	90					0	0	0.038147	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716765	153716765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:153716765G>A	ENST00000263512.4	-	2	1013	c.515C>T	c.(514-516)cCt>cTt	p.P172L	SLC10A3_ENST00000393586.1_Missense_Mutation_p.P227L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.P172L|SLC10A3_ENST00000369649.4_Missense_Mutation_p.P143L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	172					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTCTTCAGCAGGTGAGACCTT	0.602000													53	67					0	0	0.048971	0	0
FAM66D	100132923	broad.mit.edu	37	8	11985706	11985706	+	RNA	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:11985706G>A	ENST00000434078.2	+	0	608					NR_027425.1																						AGAGGACATAGGCCTGTTGAC	0.453000													3	55					0	0	0.014758	0	0
USP29	57663	broad.mit.edu	37	19	57641043	57641043	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57641043C>A	ENST00000254181.4	+	4	1454	c.1000C>A	c.(1000-1002)Cag>Aag	p.Q334K	USP29_ENST00000598197.1_Missense_Mutation_p.Q334K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	334					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GACCTTGACCCAGCTGCTTGC	0.378000													19	198					7.45023e-12	9.4638e-12	0.055883	1	0
TP53	7157	broad.mit.edu	37	17	7578247	7578247	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:7578247A>T	ENST00000420246.2	-	6	734	c.602T>A	c.(601-603)tTg>tAg	p.L201*	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.L201*|TP53_ENST00000269305.4_Nonsense_Mutation_p.L201*|TP53_ENST00000413465.2_Nonsense_Mutation_p.L201*|TP53_ENST00000445888.2_Nonsense_Mutation_p.L201*|TP53_ENST00000455263.2_Nonsense_Mutation_p.L201*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	201	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> S (in a sporadic cancer; somatic mutation).|LR -> FC (in a sporadic cancer; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(5)|p.N200fs*4(1)|p.L201P(1)|p.L201S(1)|p.E198fs*7(1)|p.L201fs*46(1)|p.P191fs*6(1)|p.G199fs*42(1)|p.L201*(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)		CTCCACACGCAAATTTCCTTC	0.552000		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)			18	64					0	0	0.062417	0	0
GRID2	2895	broad.mit.edu	37	4	94006200	94006200	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:94006200C>T	ENST00000282020.4	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	100					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGGCTGCACGTCAGCAGGA	0.522000													6	99					0	0	0.029380	0	0
OR4K1	79544	broad.mit.edu	37	14	20404174	20404174	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:20404174G>T	ENST00000285600.4	+	1	408	c.349G>T	c.(349-351)Gct>Tct	p.A117S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTTGCTTGTAGCTATGGCATA	0.418000													16	163					0.000422831	0.000473169	0.028581	1	0
PTPRJ	5795	broad.mit.edu	37	11	48181492	48181492	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:48181492A>T	ENST00000418331.2	+	22	3801	c.3449A>T	c.(3448-3450)gAg>gTg	p.E1150V		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1150	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCAAATGTGAGGAGTATTGG	0.423000													16	148					0	0	0.033300	0	0
KLHL1	57626	broad.mit.edu	37	13	70456501	70456501	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:70456501T>A	ENST00000377844.4	-	5	1900	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	KLHL1_ENST00000545028.1_Missense_Mutation_p.M188L	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	381					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGACCCACATCATCAATGCA	0.443000													27	110					0	0	0.024334	0	0
WISP3	8838	broad.mit.edu	37	6	112375526	112375526	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:112375526T>C	ENST00000361714.1	+	1	65	c.20T>C	c.(19-21)cTc>cCc	p.L7P	WISP3_ENST00000368666.2_5'UTR|WISP3_ENST00000483439.1_3'UTR|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000604763.1_Intron			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	0					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CGGCGACTTCTCTACCCCTCA	0.607000													22	268					0	0	0.076483	0	0
ECT2L	345930	broad.mit.edu	37	6	139134477	139134477	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:139134477G>T	ENST00000423192.1	+	2	227	c.66_splice	c.e2+1	p.Q22_splice	ECT2L_ENST00000367682.2_Splice_Site_p.Q22_splice			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	22					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TAAATAGACAGGTAAGTTACA	0.378000			"""N, Splice, Mis"""		ETP ALL								9	93					4.68919e-08	5.73937e-08	0.069234	1	0
ZFP91	80829	broad.mit.edu	37	11	58384739	58384739	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:58384739G>A	ENST00000316059.6	+	11	1444	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.D425N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	425					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATGATGCAGACTCCTTCTA	0.428000													11	132					0	0	0.080935	0	0
DACH1	1602	broad.mit.edu	37	13	72204713	72204713	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:72204713T>A	ENST00000305425.4	-	3	1529	c.1107A>T	c.(1105-1107)gaA>gaT	p.E369D	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.E369D|DACH1_ENST00000313174.7_Missense_Mutation_p.E369D	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	367	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGTCCCCGTTTTCAGAGTCTG	0.378000													46	473					0	0	0.048971	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158993	132158993	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:132158993G>A	ENST00000378679.3	-	9	2979	c.2175C>T	c.(2173-2175)cgC>cgT	p.R725R	SHROOM1_ENST00000319854.3_Silent_p.R725R|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Silent_p.R656R	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	725	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCGGCGCACGCGCGCCAGGC	0.692000													6	70					0	0	0.021553	0	0
HPS3	84343	broad.mit.edu	37	3	148880620	148880620	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:148880620G>C	ENST00000296051.2	+	13	2576	c.2436G>C	c.(2434-2436)aaG>aaC	p.K812N	HPS3_ENST00000460120.1_Missense_Mutation_p.K647N	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	812						cytoplasm		p.K812N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATTGTCTAAGAGGCAGCCTC	0.423000									Hermansky-Pudlak syndrome				22	152					0	0	0.083992	0	0
NEMF	9147	broad.mit.edu	37	14	50312960	50312960	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:50312960C>T	ENST00000298310.5	-	4	704	c.255G>A	c.(253-255)cgG>cgA	p.R85R	NEMF_ENST00000546046.1_Silent_p.R85R|NEMF_ENST00000556672.1_Silent_p.R85R|NEMF_ENST00000545773.1_Intron			O60524	NEMF_HUMAN	nuclear export mediator factor	85						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGACTAATCTCCGACTCTTCA	0.343000													5	115					0	0	0.014758	0	0
CERS4	79603	broad.mit.edu	37	19	8321168	8321168	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:8321168C>A	ENST00000558331.1	+	7	823	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000559450.1_Missense_Mutation_p.Q173K|CERS4_ENST00000559336.1_Missense_Mutation_p.Q173K|CERS4_ENST00000251363.5_Missense_Mutation_p.Q173K			Q9HA82	CERS4_HUMAN	ceramide synthase 4	173						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTACCCAAACCAGGTGAGTGG	0.572000													5	31					3.59834e-05	4.16556e-05	0.021553	1	0
FOXN1	8456	broad.mit.edu	37	17	26862068	26862068	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:26862068G>T	ENST00000226247.2	+	7	1508	c.1479G>T	c.(1477-1479)ctG>ctT	p.L493L	FOXN1_ENST00000579795.1_Silent_p.L493L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	493					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACTCGCCTCTGCCTGCCCACA	0.692000													25	68					1.1804e-14	1.53256e-14	0.091800	1	0
CLCN2	1181	broad.mit.edu	37	3	184071144	184071144	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:184071144C>T	ENST00000265593.4	-	17	2093	c.1922G>A	c.(1921-1923)aGc>aAc	p.S641N	CLCN2_ENST00000457512.1_Missense_Mutation_p.S641N|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.S624N|CLCN2_ENST00000434054.2_Missense_Mutation_p.S597N|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	641	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCGGGCTGGGCTCAGCTGGGC	0.627000													16	79					0	0	0.024245	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445377	110445377	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:110445377G>T	ENST00000378402.5	+	28	3376	c.3272G>T	c.(3271-3273)gGa>gTa	p.G1091V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1091	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGTTCTGGATTTTCTCCT	0.333000										HNSCC(38;0.096)			35	497					9.62906e-15	1.25713e-14	0.086207	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	7					0	0	0.004672	0	0
ANK2	287	broad.mit.edu	37	4	114209630	114209630	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:114209630C>T	ENST00000357077.4	+	20	2318	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N	ANK2_ENST00000264366.6_Silent_p.N755N|ANK2_ENST00000506722.1_Silent_p.N734N|ANK2_ENST00000394537.3_Silent_p.N755N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	755					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAATGTTAACGCAAAAACCA	0.373000													15	68					0	0	0.024245	0	0
WIPF1	7456	broad.mit.edu	37	2	175450340	175450340	+	Splice_Site	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:175450340C>T	ENST00000392547.2	-	2	62		c.e2-1		WIPF1_ENST00000409415.3_Splice_Site|WIPF1_ENST00000409891.1_Splice_Site|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Splice_Site|WIPF1_ENST00000392546.2_Splice_Site|AC018890.6_ENST00000412835.1_RNA|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Splice_Site|WIPF1_ENST00000410117.1_Splice_Site	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1						actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GCTGATAAATCTGGAAAAACA	0.493000													8	57					0	0	0.047766	0	0
ZNF519	162655	broad.mit.edu	37	18	14105333	14105333	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:14105333T>C	ENST00000590202.1	-	3	1358	c.1206A>G	c.(1204-1206)aaA>aaG	p.K402K	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACTTGAAAGGTTTCTCTCCAG	0.403000													6	216					0	0	0.038147	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964965	7964965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:7964965C>T	ENST00000539278.1	-	1	3462	c.302G>A	c.(301-303)tGg>tAg	p.W101*	LRRC8E_ENST00000306708.6_Nonsense_Mutation_p.Q520*																							GCTTTTCCCCCAGGAGCTAGC	0.657000													5	32					0	0	0.021553	0	0
GRHL3	57822	broad.mit.edu	37	1	24669215	24669215	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:24669215G>A	ENST00000361548.4	+	10	1468	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	GRHL3_ENST00000350501.5_Missense_Mutation_p.R413Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.R320Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.R418Q|GRHL3_ENST00000356046.2_Missense_Mutation_p.R367Q	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	413					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R418Q(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GATGACGAGCGGAAGCAGTTC	0.627000													16	191					0	0	0.033300	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710445	140710445	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:140710445G>A	ENST00000517417.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R65H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGAGTCCGCATCGTCTCC	0.592000													5	223					0	0	0.014758	0	0
EXOC5	10640	broad.mit.edu	37	14	57676773	57676773	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:57676773T>G	ENST00000413566.2	-	16	1979	c.1620A>C	c.(1618-1620)ttA>ttC	p.L540F	EXOC5_ENST00000340918.7_Missense_Mutation_p.L475F	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	540					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TCATACAATTTAATGTCCTAG	0.269000													6	30					0	0	0.021553	0	0
UBLCP1	134510	broad.mit.edu	37	5	158710239	158710239	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:158710239C>T	ENST00000296786.6	+	10	1147	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	274	FCP1 homology.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTTATGAAAGCGCACCTAAAT	0.299000													16	120					0	0	0.028581	0	0
CCDC6	8030	broad.mit.edu	37	10	61592406	61592406	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:61592406C>A	ENST00000263102.6	-	3	690	c.459G>T	c.(457-459)caG>caT	p.Q153H		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	153	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTTTCTCATGCTGCAACTGGA	0.398000			T	RET	NSCLC								6	63					0.0215528	0.0228149	0.021553	1	0
RGR	5995	broad.mit.edu	37	10	86012692	86012692	+	Silent	SNP	C	C	A	rs141356847		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:86012692C>A	ENST00000359452.4	+	4	488	c.450C>A	c.(448-450)ccC>ccA	p.P150P	RGR_ENST00000358110.5_Silent_p.P146P	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	146					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CAGCTCTGCCCCTTCTGGGTT	0.607000													9	112					5.16669e-11	6.49289e-11	0.080935	1	0
SV2B	9899	broad.mit.edu	37	15	91769847	91769847	+	Silent	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:91769847C>A	ENST00000394232.1	+	2	824	c.354C>A	c.(352-354)gcC>gcA	p.A118A	SV2B_ENST00000330276.4_Silent_p.A118A|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	118					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGGTTTGGCCCTGATGGCCG	0.537000													8	76					0.000442599	0.000492942	0.058154	1	0
RD3	343035	broad.mit.edu	37	1	211654485	211654485	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:211654485G>A	ENST00000367002.4	-	2	1436	c.273C>T	c.(271-273)tcC>tcT	p.S91S	RD3_ENST00000484910.1_Intron	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	91					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GCCCACAATAGGATGGGTGGA	0.617000													17	45					0	0	0.038395	0	0
PLG	5340	broad.mit.edu	37	6	161139390	161139390	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:161139390C>T	ENST00000308192.9	+	8	915	c.852C>T	c.(850-852)cgC>cgT	p.R284R		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAACTATCGCGGGAATGTGG	0.493000													16	159					0	0	0.038395	0	0
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	12					0.00909568	0.00980498	0.009096	1	0
ADH1B	125	broad.mit.edu	37	4	100232742	100232742	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100232742C>T	ENST00000305046.8	-	7	967	c.900G>A	c.(898-900)caG>caA	p.Q300Q	ADH1B_ENST00000394887.3_Silent_p.Q260Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	300					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTGAGAGGTTCTGGGAAGCAG	0.473000													19	260					0	0	0.055883	0	0
KIAA1199	57214	broad.mit.edu	37	15	81176553	81176553	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:81176553C>G	ENST00000394685.3	+	7	1074	c.655C>G	c.(655-657)Ctg>Gtg	p.L219V	KIAA1199_ENST00000220244.3_Missense_Mutation_p.L219V|KIAA1199_ENST00000356249.5_Missense_Mutation_p.L219V			Q8WUJ3	K1199_HUMAN	KIAA1199	219										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGTGAACGTCTGGTCCAGTA	0.468000													4	274					0	0	0.009096	0	0
TBCK	93627	broad.mit.edu	37	4	107016640	107016640	+	Splice_Site	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:107016640T>A	ENST00000273980.4	-	26	3017	c.2571_splice	c.e26+1	p.E857_splice	TBCK_ENST00000394706.3_Splice_Site_p.E818_splice|TBCK_ENST00000394708.2_Splice_Site_p.E857_splice|TBCK_ENST00000432496.2_Splice_Site_p.E857_splice|TBCK_ENST00000361687.4_Splice_Site_p.E794_splice			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	857	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TATACTTACCTCAGCTGTGTG	0.428000													19	90					0	0	0.043863	0	0
ZNF239	8187	broad.mit.edu	37	10	44053142	44053142	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:44053142G>A	ENST00000306006.6	-	2	1038	c.386C>T	c.(385-387)tCg>tTg	p.S129L	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000374446.2_Missense_Mutation_p.S129L|ZNF239_ENST00000426961.1_Missense_Mutation_p.S129L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S129L	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.S129L(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAACAATGGCGAGGCCAGTTC	0.413000													9	239					0	0	0.047766	0	0
ZNF229	7772	broad.mit.edu	37	19	44933099	44933099	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:44933099C>A	ENST00000291187.4	-	6	2161	c.1839G>T	c.(1837-1839)caG>caT	p.Q613H	ZNF229_ENST00000588931.1_Missense_Mutation_p.Q619H|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGACCCTCTGATGGATAA	0.547000													11	156					3.86212e-05	4.44901e-05	0.069234	1	0
ABCC1	4363	broad.mit.edu	37	16	16101762	16101762	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:16101762C>T	ENST00000399408.2	+	2	313	c.138C>T	c.(136-138)ctC>ctT	p.L46L	ABCC1_ENST00000399410.3_Silent_p.L46L|ABCC1_ENST00000345148.5_Silent_p.L46L|ABCC1_ENST00000346370.5_Silent_p.L46L|ABCC1_ENST00000349029.5_Silent_p.L46L|ABCC1_ENST00000351154.5_Silent_p.L46L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	46					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTTTTTACCTCTGGGCCTGTT	0.507000													16	201					0	0	0.033300	0	0
TTN	7273	broad.mit.edu	37	2	179638332	179638332	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179638332T>G	ENST00000589042.1	-	32	7675	c.7451A>C	c.(7450-7452)cAa>cCa	p.Q2484P	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q2484P|TTN_ENST00000591111.1_Missense_Mutation_p.Q2484P|TTN_ENST00000359218.5_Missense_Mutation_p.Q2438P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q2438P|TTN_ENST00000460472.2_Missense_Mutation_p.Q2438P|TTN_ENST00000342992.6_Missense_Mutation_p.Q2484P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2213	Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTTGATTTGTTCATCATT	0.428000													14	185					0	0	0.020292	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271590	26271590	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26271590G>A	ENST00000305910.3	-	1	22	c.23C>T	c.(22-24)gCa>gTa	p.A8V		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	8					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGACTTGCGTGCAGTCTGCTT	0.567000													5	66					0	0	0.021553	0	0
KEAP1	9817	broad.mit.edu	37	19	10602764	10602764	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10602764G>A	ENST00000171111.5	-	3	1361	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R272C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	272	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAGTGGCAGCGCACGGCCCGC	0.617000													10	60					0	0	0.058154	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807026	15807026	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:15807026G>A	ENST00000550308.1	+	11	1685	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	CYP4F12_ENST00000324632.9_Silent_p.P435P	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CTGTGTGGCCGGATCCTGAGG	0.557000													4	165					0	0	0.009096	0	0
EYA2	2139	broad.mit.edu	37	20	45725801	45725801	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:45725801C>T	ENST00000327619.5	+	9	1256	c.882C>T	c.(880-882)taC>taT	p.Y294Y	EYA2_ENST00000357410.3_Silent_p.Y294Y|EYA2_ENST00000317304.6_Silent_p.Y294Y	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	294					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CATCCAGATACGGGAAGGTAA	0.423000													29	275					0	0	0.034045	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712380	41712380	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:41712380C>G	ENST00000310054.4	+	9	1718	c.1502C>G	c.(1501-1503)aCg>aGg	p.T501R	CYP2S1_ENST00000542619.1_Missense_Mutation_p.T226R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	501					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CACTCCACCACGCAGACCAGA	0.602000													17	207					0	0	0.028581	0	0
LILRA1	11024	broad.mit.edu	37	19	55105660	55105660	+	Splice_Site	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55105660A>T	ENST00000453777.1	+	2	122		c.e2-1		LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGTCCTGCCAGCACCGAGGG	0.582000													11	94					0	0	0.080935	0	0
DSG2	1829	broad.mit.edu	37	18	29110982	29110982	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:29110982C>T	ENST00000261590.8	+	9	1256	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	349	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAATCTTGACTTCAGTGTTA	0.343000													40	110					0	0	0.033182	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296445	28296445	+	Missense_Mutation	SNP	C	C	T	rs75336666		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296445C>T	ENST00000284987.5	-	8	2841	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGCTAACTTCCGGTTTCCATC	0.527000													13	103					0	0	0.016723	0	0
BAG2	9532	broad.mit.edu	37	6	57048922	57048922	+	Silent	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:57048922A>G	ENST00000370693.5	+	3	942	c.570A>G	c.(568-570)ctA>ctG	p.L190L	BAG2_ENST00000545080.1_Silent_p.L157L	NM_004282.3	NP_004273.1	O95816	BAG2_HUMAN	BCL2-associated athanogene 2	190					apoptosis|protein folding		protein binding			endometrium(1)|large_intestine(1)	2	Lung NSC(77;0.126)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CCATCAAGCTATTAGAGCATT	0.363000													12	61					0	0	0.013537	0	0
OR10J3	441911	broad.mit.edu	37	1	159283758	159283758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:159283758G>A	ENST00000332217.5	-	1	691	c.692C>T	c.(691-693)tCa>tTa	p.S231L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					ACCTTCAGCTGAGGCAATCTT	0.493000													38	138					0	0	0.092188	0	0
NAE1	8883	broad.mit.edu	37	16	66837006	66837006	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:66837006T>C	ENST00000379463.2	-	21	1685	c.1493A>G	c.(1492-1494)gAg>gGg	p.E498G	NAE1_ENST00000394074.2_Missense_Mutation_p.E415G|NAE1_ENST00000359087.4_Missense_Mutation_p.E507G|NAE1_ENST00000290810.3_Missense_Mutation_p.E504G	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	504					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTGATGACCTCTTGAGCAGC	0.328000													7	63					0	0	0.029380	0	0
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358000													10	171					0.000978159	0.00107919	0.080935	1	0
PAM	5066	broad.mit.edu	37	5	102363940	102363940	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:102363940G>C	ENST00000438793.3	+	24	3211	c.2741G>C	c.(2740-2742)aGa>aCa	p.R914T	PAM_ENST00000379787.4_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.R816T|PAM_ENST00000304400.7_Missense_Mutation_p.R915T|PAM_ENST00000346918.2_Intron|PAM_ENST00000455264.2_Missense_Mutation_p.R846T|PAM_ENST00000348126.2_Missense_Mutation_p.R807T	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	914					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GGAAGATTTAGAGGTATGCCT	0.373000													22	146					0	0	0.024334	0	0
TTYH1	57348	broad.mit.edu	37	19	54946764	54946764	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54946764G>A	ENST00000301194.4	+	11	1290	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	TTYH1_ENST00000376531.3_Missense_Mutation_p.E390K|TTYH1_ENST00000391739.3_Missense_Mutation_p.420_420insE|TTYH1_ENST00000376530.3_Missense_Mutation_p.E390K|TTYH1_ENST00000489425.1_3'UTR			Q9H313	TTYH1_HUMAN	tweety family member 1	390					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		AGACGCCCTGGAAGGCCTGCT	0.687000													8	87					0	0	0.038147	0	0
NKRF	55922	broad.mit.edu	37	X	118723933	118723933	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:118723933C>A	ENST00000371527.1	-	2	2107	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	NKRF_ENST00000542113.1_Missense_Mutation_p.E500D|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.E485D	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	485					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.E485D(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TTACTTCACTCTCTAGAATCA	0.458000													5	186					2.0095e-06	2.38501e-06	0.029380	1	0
MGAT4A	11320	broad.mit.edu	37	2	99279521	99279521	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:99279521G>T	ENST00000393487.1	-	5	838	c.525C>A	c.(523-525)gtC>gtA	p.V175V	MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000264968.2_Silent_p.V175V|MGAT4A_ENST00000414521.2_Silent_p.V47V|MGAT4A_ENST00000409391.1_Silent_p.V175V	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	175					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						CTCCTATGAAGACTACTATAA	0.303000													29	268					0.000184323	0.000207254	0.034045	1	0
ITSN2	50618	broad.mit.edu	37	2	24432687	24432687	+	Splice_Site	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:24432687C>T	ENST00000355123.4	-	35	4916	c.4473_splice	c.e35+1	p.T1491_splice	ITSN2_ENST00000361999.3_Splice_Site_p.T1464_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1491	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T1490T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATACTCACCGTTTTATACA	0.502000													5	108					0	0	0.014758	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514478	50514478	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50514478G>C	ENST00000419119.1	-	2	2061	c.508C>G	c.(508-510)Cga>Gga	p.R170G	FIGNL1_ENST00000433017.1_Missense_Mutation_p.R170G|FIGNL1_ENST00000356889.4_Missense_Mutation_p.R170G|FIGNL1_ENST00000395556.2_Missense_Mutation_p.R170G			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	170					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				GTCCGGTCTCGATCATGAGCT	0.458000													35	237					0	0	0.054565	0	0
TRBV27	28560	broad.mit.edu	37	7	142423604	142423604	+	RNA	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:142423604G>A	ENST00000506718.1	+	0	612				TRBV27_ENST00000390399.3_RNA																							AAAGTCTCTCGAAAAGAGAAG	0.502000													7	62					0	0	0.047766	0	0
TTN	7273	broad.mit.edu	37	2	179650801	179650801	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:179650801C>G	ENST00000589042.1	-	14	2368	c.2144G>C	c.(2143-2145)aGa>aCa	p.R715T	TTN_ENST00000360870.5_Missense_Mutation_p.R715T|TTN_ENST00000591111.1_Missense_Mutation_p.R715T|TTN_ENST00000359218.5_Missense_Mutation_p.R669T|TTN_ENST00000342175.6_Missense_Mutation_p.R669T|TTN_ENST00000460472.2_Missense_Mutation_p.R669T|TTN_ENST00000342992.6_Missense_Mutation_p.R715T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	715							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGCTCTCTGACTCGGGC	0.502000													8	85					0	0	0.047766	0	0
SERGEF	26297	broad.mit.edu	37	11	17981067	17981067	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:17981067G>A	ENST00000265965.5	-	9	1112	c.961C>T	c.(961-963)Cca>Tca	p.P321S	SERGEF_ENST00000528200.1_Intron|SERGEF_ENST00000532265.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	321					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CTGTTCGGTGGTCTTGAACAG	0.478000													11	76					0	0	0.069234	0	0
FAT3	120114	broad.mit.edu	37	11	92085715	92085715	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:92085715T>C	ENST00000298047.6	+	1	454	c.437T>C	c.(436-438)aTa>aCa	p.I146T	FAT3_ENST00000525166.1_5'UTR|FAT3_ENST00000541502.1_Missense_Mutation_p.I146T|FAT3_ENST00000409404.2_Missense_Mutation_p.I146T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	146	Cadherin 1.				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)				AAAGTGAATATACAGGTTTTA	0.378000										TCGA Ovarian(4;0.039)			6	61					0	0	0.021553	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576465	33576465	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:33576465G>T	ENST00000504830.1	-	19	4001	c.3666C>A	c.(3664-3666)ccC>ccA	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557000										HNSCC(64;0.19)			43	140					1.68508e-10	2.10636e-10	0.036044	1	0
QTRT1	81890	broad.mit.edu	37	19	10822906	10822906	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:10822906T>G	ENST00000250237.5	+	6	726	c.716T>G	c.(715-717)tTc>tGc	p.F239C		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	239					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			AAGTCGCAGTTCTGGCGGATG	0.622000													10	107					0	0	0.069234	0	0
LILRA6	79168	broad.mit.edu	37	19	54744217	54744217	+	Silent	SNP	G	G	A	rs78401423		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:54744217G>A	ENST00000419410.2	-	6	1192	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTATGAGCCGTAGCACCTGT	0.597000													4	226					0	0	0.009096	0	0
SNTG1	54212	broad.mit.edu	37	8	51449368	51449368	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:51449368G>T	ENST00000522124.1	+	11	1341	c.680_splice	c.e11+1	p.R227_splice	SNTG1_ENST00000517473.1_Splice_Site_p.R227_splice|SNTG1_ENST00000518864.1_Splice_Site_p.R227_splice|SNTG1_ENST00000276467.5_Splice_Site_p.R227_splice	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	227					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATTTGAGTCGGTGAGTCCGT	0.438000													44	279					3.86361e-14	4.96146e-14	0.048971	1	0
MTERFD1	51001	broad.mit.edu	37	8	97251890	97251890	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:97251890C>G	ENST00000287025.3	-	8	1181	c.1083G>C	c.(1081-1083)aaG>aaC	p.K361N	MTERFD1_ENST00000524341.1_Missense_Mutation_p.K117N|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000522822.1_Missense_Mutation_p.K240N	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN	MTERF domain containing 1	361					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TTTCTTTGACCTTAAACAGCC	0.323000													15	91					0	0	0.024245	0	0
KIAA1109	84162	broad.mit.edu	37	4	123147888	123147888	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:123147888G>C	ENST00000264501.4	+	24	3193	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	KIAA1109_ENST00000455637.1_Missense_Mutation_p.Q940H|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q940H|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	940					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGGGGACAGACATTTGTTT	0.413000													20	294					0	0	0.069288	0	0
MKRN3	7681	broad.mit.edu	37	15	23811027	23811027	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:23811027C>T	ENST00000314520.3	+	1	574	c.98C>T	c.(97-99)cCc>cTc	p.P33L	MKRN3_ENST00000564592.1_Missense_Mutation_p.P33L|MKRN3_ENST00000568252.1_Missense_Mutation_p.P33L	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	33						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGGACCTTCCCGTCTGTGAG	0.682000													8	91					0	0	0.058154	0	0
MOXD1	26002	broad.mit.edu	37	6	132649650	132649650	+	Silent	SNP	G	G	A	rs147693794	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:132649650G>A	ENST00000367963.3	-	5	865	c.747C>T	c.(745-747)agC>agT	p.S249S	MOXD1_ENST00000336749.3_Silent_p.S181S	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	249					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S249S(1)|p.S181S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACTCCAGAACGCTGTCGTTAA	0.517000													10	101					0	0	0.080935	0	0
LDLR	3949	broad.mit.edu	37	19	11240185	11240185	+	Silent	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:11240185A>T	ENST00000557933.1	+	17	2535	c.2448A>T	c.(2446-2448)ctA>ctT	p.L816L	LDLR_ENST00000558518.1_Intron|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000455727.2_Intron|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000558013.1_Intron			P01130	LDLR_HUMAN	low density lipoprotein receptor	66	Required for MYLIP-triggered down- regulation of LDLR.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCCTCTCCCTACAGTGCTCCT	0.547000													12	94					0	0	0.016723	0	0
FSTL5	56884	broad.mit.edu	37	4	162307204	162307204	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:162307204A>G	ENST00000306100.5	-	16	2675	c.2239T>C	c.(2239-2241)Tcc>Ccc	p.S747P	FSTL5_ENST00000379164.4_Missense_Mutation_p.S746P|FSTL5_ENST00000536695.1_Missense_Mutation_p.S746P|FSTL5_ENST00000427802.2_Missense_Mutation_p.S737P|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	747						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGTAAAGGATGGTTGAAAT	0.408000													17	142					0	0	0.028581	0	0
ACAD8	27034	broad.mit.edu	37	11	134131756	134131756	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:134131756A>T	ENST00000281182.4	+	9	1170	c.1064A>T	c.(1063-1065)aAg>aTg	p.K355M	ACAD8_ENST00000543332.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.K278M|ACAD8_ENST00000374752.4_Missense_Mutation_p.K228M|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	355					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TCCATGGCCAAGCTCTTTGCT	0.582000													4	54					0	0	0.009096	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457162	6457162	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6457162T>C	ENST00000358945.3	-	13	2393	c.1953A>G	c.(1951-1953)ccA>ccG	p.P651P	SCNN1A_ENST00000543768.1_Silent_p.P652P|SCNN1A_ENST00000360168.3_Silent_p.P688P|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Silent_p.P629P|SCNN1A_ENST00000540037.1_Silent_p.P329P			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	629					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	gagcagggcctggctgggaca	0.697000													4	14					0	0	0.009096	0	0
PTPRF	5792	broad.mit.edu	37	1	44084958	44084958	+	Splice_Site	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:44084958G>T	ENST00000359947.4	+	28	4986		c.e28-1		PTPRF_ENST00000422171.2_Splice_Site|PTPRF_ENST00000372414.3_Splice_Site|PTPRF_ENST00000372413.3_Splice_Site|PTPRF_ENST00000496447.1_Splice_Site|PTPRF_ENST00000438120.1_Splice_Site	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGTCCTGCAGCGCGGGCGTG	0.652000													5	36					0.014758	0.0157642	0.014758	1	0
RIF1	55183	broad.mit.edu	37	2	152324520	152324520	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr2:152324520C>T	ENST00000243326.4	+	30	7090	c.6607C>T	c.(6607-6609)Cgt>Tgt	p.R2203C	RIF1_ENST00000430328.2_Missense_Mutation_p.R2203C|RIF1_ENST00000428287.2_Missense_Mutation_p.R2203C|RIF1_ENST00000453091.2_Missense_Mutation_p.R2203C|RIF1_ENST00000444746.2_Missense_Mutation_p.R2203C			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2203	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCAGGTTCGCCGTGTCTCCTT	0.358000													25	165					0	0	0.027356	0	0
OR52B2	255725	broad.mit.edu	37	11	6191298	6191298	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:6191298A>C	ENST00000530810.1	-	1	340	c.259T>G	c.(259-261)Ttt>Gtt	p.F87V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCCAAAAGATGGCTAGG	0.493000													16	160					0	0	0.033300	0	0
OBSCN	84033	broad.mit.edu	37	1	228465484	228465484	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:228465484G>C	ENST00000570156.2	+	30	8145	c.8071G>C	c.(8071-8073)Gtc>Ctc	p.V2691L	OBSCN_ENST00000284548.11_Missense_Mutation_p.V2262L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2262L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1109L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1688	Ig-like 26.				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	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor 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)				CTACCGGAGAGTCCTGGCGGA	0.622000													7	62					0	0	0.047766	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296446	28296446	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr21:28296446G>T	ENST00000284987.5	-	8	2840	c.2719C>A	c.(2719-2721)Cgg>Agg	p.R907R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	907	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R907R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCTAACTTCCGGTTTCCATCC	0.527000													13	101					9.31168e-06	1.09412e-05	0.016723	1	0
FAT1	2195	broad.mit.edu	37	4	187541443	187541443	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:187541443G>A	ENST00000441802.2	-	10	6506	c.6297C>T	c.(6295-6297)gtC>gtT	p.V2099V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2099	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATAGCGAATGACATGGCCCA	0.473000										HNSCC(5;0.00058)			30	255					0	0	0.050027	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944862	43944862	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:43944862G>A	ENST00000389420.3	-	2	302	c.303C>T	c.(301-303)gcC>gcT	p.A101A	ADAMTS20_ENST00000553158.1_Silent_p.A101A	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	101						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTAGCCGGCGGCCAGAAAGG	0.682000													8	18					0	0	0.080935	0	0
PTCH1	5727	broad.mit.edu	37	9	98238315	98238315	+	Splice_Site	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:98238315C>A	ENST00000430669.2	-	12	2116		c.e12+1		PTCH1_ENST00000429896.2_Splice_Site|PTCH1_ENST00000437951.1_Splice_Site|PTCH1_ENST00000331920.6_Splice_Site|PTCH1_ENST00000418258.1_Splice_Site|PTCH1_ENST00000375274.2_Splice_Site|PTCH1_ENST00000421141.1_Splice_Site			Q13635	PTC1_HUMAN	patched 1						embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CAGAAGCTCACCTGGAGGGAG	0.567000													24	41					2.41591e-17	3.20757e-17	0.024334	1	0
SPTLC2	9517	broad.mit.edu	37	14	78063666	78063666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:78063666C>A	ENST00000216484.2	-	2	383	c.190G>T	c.(190-192)Gaa>Taa	p.E64*		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	64				EAFE -> TLAR (in Ref. 5; AAC50871).		integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGTGTTTCTTCAAAAGCTTCA	0.383000													5	80					0.0215528	0.0228149	0.021553	1	0
ARHGEF17	9828	broad.mit.edu	37	11	73074856	73074856	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:73074856G>A	ENST00000263674.3	+	16	5661	c.5311G>A	c.(5311-5313)Gcg>Acg	p.A1771T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1771					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTCCAGCATGCGGCCTCTGT	0.582000													17	85					0	0	0.038395	0	0
APLNR	187	broad.mit.edu	37	11	57003872	57003872	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr11:57003872C>G	ENST00000606794.1	-	1	803	c.607G>C	c.(607-609)Gtc>Ctc	p.V203L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	203						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GTGGACGAGACCCCAAGGCCC	0.592000													8	69					0	0	0.038147	0	0
NRD1	4898	broad.mit.edu	37	1	52289446	52289446	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr1:52289446G>A	ENST00000354831.7	-	9	1442	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	NRD1_ENST00000539524.1_Missense_Mutation_p.T286M|NRD1_ENST00000352171.7_Missense_Mutation_p.T350M|NRD1_ENST00000544028.1_Missense_Mutation_p.T218M|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	349					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATGCTTGAGCGTCTCAGCATT	0.313000													6	84					0	0	0.021553	0	0
CEP89	84902	broad.mit.edu	37	19	33370188	33370188	+	Silent	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:33370188G>A	ENST00000305768.4	-	19	2320	c.2232C>T	c.(2230-2232)ggC>ggT	p.G744G		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	744						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGTCCTGCACGCCTGTCCTCG	0.537000													21	255					0	0	0.069288	0	0
SLFN13	146857	broad.mit.edu	37	17	33767957	33767957	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:33767957G>T	ENST00000285013.6	-	6	2626	c.2351C>A	c.(2350-2352)aCt>aAt	p.T784N	SLFN13_ENST00000533791.1_Missense_Mutation_p.T784N|SLFN13_ENST00000534689.1_Missense_Mutation_p.T466N|SLFN13_ENST00000360502.2_Missense_Mutation_p.T466N|SLFN13_ENST00000542635.1_Missense_Mutation_p.T784N|SLFN13_ENST00000526861.1_Missense_Mutation_p.T784N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	784						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TTGCTCCAAAGTAAAGTTTTT	0.443000													34	103					1.61788e-16	2.13596e-16	0.050027	1	0
P2RY10	27334	broad.mit.edu	37	X	78216634	78216634	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chrX:78216634G>T	ENST00000171757.2	+	4	897	c.617G>T	c.(616-618)gGa>gTa	p.G206V	P2RY10_ENST00000544091.1_Missense_Mutation_p.G206V	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	206						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GAGCTTGCAGGATTTGTGATC	0.458000													10	56					3.07112e-06	3.6267e-06	0.080935	1	0
PFAS	5198	broad.mit.edu	37	17	8170877	8170877	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:8170877C>T	ENST00000314666.6	+	26	3409	c.3276C>T	c.(3274-3276)gaC>gaT	p.D1092D	PFAS_ENST00000545834.1_Silent_p.D668D	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1092	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGTATGGGACGTGACCATGC	0.637000													18	155					0	0	0.049695	0	0
TRIM8	81603	broad.mit.edu	37	10	104416556	104416556	+	Silent	SNP	C	C	T	rs41300235	byFrequency	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:104416556C>T	ENST00000302424.6	+	6	1223	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	367						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	p.C367C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTACCCTTGCGGCGTGAGCA	0.647000													5	235					0	0	0.014758	0	0
ZFP36L1	677	broad.mit.edu	37	14	69256577	69256577	+	Silent	SNP	A	A	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr14:69256577A>T	ENST00000439696.2	-	2	991	c.690T>A	c.(688-690)ccT>ccA	p.P230P	ZFP36L1_ENST00000336440.3_Silent_p.P230P|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	230					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGCTCAGAATAGGGGGTGGGG	0.637000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	197					0	0	0.055883	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	15					0	0	0.028581	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377720	125377720	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:125377720G>T	ENST00000297913.2	+	1	773	c.704G>T	c.(703-705)tGg>tTg	p.W235L	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						AAGGGCAGGTGGAAAACCTTT	0.557000													48	165					1.81118e-26	2.43216e-26	0.048971	1	0
CHRM5	1133	broad.mit.edu	37	15	34355730	34355730	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:34355730G>T	ENST00000383263.5	+	3	1482	c.812G>T	c.(811-813)tGg>tTg	p.W271L	CHRM5_ENST00000557872.1_Missense_Mutation_p.W271L	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	271					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CAGGCCTCCTGGTCATCCTCC	0.612000													8	109					0.0381472	0.0402	0.038147	1	0
TAF15	8148	broad.mit.edu	37	17	34171147	34171147	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:34171147G>T	ENST00000588240.1	+	13	1188	c.1073G>T	c.(1072-1074)tGg>tTg	p.W358L	TAF15_ENST00000592237.1_Missense_Mutation_p.W267L|TAF15_ENST00000311979.3_Missense_Mutation_p.W355L	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	358	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTGGGGATTGGGTTTGCCCT	0.527000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								17	212					1.45105e-14	1.87361e-14	0.038395	1	0
IKZF1	10320	broad.mit.edu	37	7	50468217	50468217	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:50468217C>T	ENST00000331340.3	+	8	1607	c.1452C>T	c.(1450-1452)caC>caT	p.H484H	IKZF1_ENST00000439701.1_Silent_p.H442H|IKZF1_ENST00000357364.4_Silent_p.H397H|IKZF1_ENST00000438033.1_Silent_p.H397H|IKZF1_ENST00000359197.5_Silent_p.H442H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000343574.5_Silent_p.H397H|IKZF1_ENST00000346667.4_Silent_p.H254H|IKZF1_ENST00000349824.4_Silent_p.H341H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	484					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGGGCTGCCACGGCTTCCGTG	0.587000			"""D,T"""	BCL6	"""ALL, DLBCL"""								7	26					0	0	0.047766	0	0
ZIK1	284307	broad.mit.edu	37	19	58101682	58101682	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:58101682G>A	ENST00000597850.1	+	4	718	c.503G>A	c.(502-504)cGc>cAc	p.R168H	ZIK1_ENST00000599456.1_Missense_Mutation_p.R113H|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.R155H	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAGCCCTTTCGCAAATGGGAG	0.502000													5	81					0	0	0.029380	0	0
ZNF366	167465	broad.mit.edu	37	5	71756160	71756160	+	Silent	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:71756160C>T	ENST00000318442.5	-	2	1654	c.1164G>A	c.(1162-1164)cgG>cgA	p.R388R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGATGGGGCCCCGGTGCGTGG	0.612000													8	57					0	0	0.058154	0	0
SLC25A27	9481	broad.mit.edu	37	6	46644143	46644143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:46644143G>A	ENST00000371347.5	+	9	1176	c.924G>A	c.(922-924)tgG>tgA	p.W308*	RP11-446F17.3_ENST00000422284.2_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000452689.2_Nonsense_Mutation_p.W222*|RP11-446F17.3_ENST00000434329.2_RNA	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	308					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			TGGTGTTCTGGCTTACTTATG	0.328000													14	96					0	0	0.033300	0	0
BRSK1	84446	broad.mit.edu	37	19	55815119	55815119	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:55815119G>A	ENST00000309383.1	+	12	1488	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N	BRSK1_ENST00000326848.7_Missense_Mutation_p.S99N|BRSK1_ENST00000590333.1_Missense_Mutation_p.S420N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	404					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GAAGTCCTGAGCATCACCGAT	0.662000													11	158					0	0	0.080935	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909529	24909529	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:24909529C>T	ENST00000396432.2	-	9	1781	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R219H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	431					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CAAAGTAGTGCGGTTGGGGAC	0.488000													4	132					0	0	0.014758	0	0
BTBD3	22903	broad.mit.edu	37	20	11903518	11903518	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:11903518C>A	ENST00000405977.1	+	5	1398	c.773C>A	c.(772-774)tCt>tAt	p.S258Y	BTBD3_ENST00000399006.2_Missense_Mutation_p.S197Y|BTBD3_ENST00000488503.1_3'UTR|BTBD3_ENST00000254977.3_Missense_Mutation_p.S197Y|BTBD3_ENST00000378226.2_Missense_Mutation_p.S258Y			Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	258										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCTCTCAAGTCTGAGGGATTC	0.517000													13	117					1.49906e-05	1.74395e-05	0.020292	1	0
ADH1B	125	broad.mit.edu	37	4	100242501	100242501	+	Translation_Start_Site	SNP	T	T	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr4:100242501T>A	ENST00000305046.8	-	0	55				ADH1B_ENST00000504498.1_5'UTR|ADH1B_ENST00000394887.3_De_novo_Start_OutOfFrame			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGTTTCTGTCTTCTCTGCCCA	0.348000													39	145					0	0	0.030466	0	0
RPUSD2	27079	broad.mit.edu	37	15	40866110	40866110	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:40866110C>A	ENST00000315616.7	+	3	1326	c.1288C>A	c.(1288-1290)Ctc>Atc	p.L430I	RPUSD2_ENST00000559271.1_Missense_Mutation_p.L369I	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	430					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		TGTGCTAGATCTCTGTGAGGG	0.597000													16	123					1.15919e-05	1.35527e-05	0.049695	1	0
GRID1	2894	broad.mit.edu	37	10	87614257	87614257	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr10:87614257C>T	ENST00000327946.7	-	8	1314	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCTTACCTTGCGCATGTCTTT	0.512000										Multiple Myeloma(13;0.14)			9	65					0	0	0.047766	0	0
TFEC	22797	broad.mit.edu	37	7	115624314	115624314	+	Splice_Site	SNP	A	A	G			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:115624314A>G	ENST00000265440.7	-	2	361		c.e2+1		TFEC_ENST00000484212.1_Splice_Site|TFEC_ENST00000393485.1_Splice_Site|TFEC_ENST00000320239.7_Splice_Site	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CATTAGACATACATGCCATTG	0.363000													18	229					0	0	0.043863	0	0
ABAT	18	broad.mit.edu	37	16	8866736	8866736	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr16:8866736G>A	ENST00000396600.2	+	12	1854	c.916G>A	c.(916-918)Gat>Aat	p.D306N	ABAT_ENST00000268251.8_Missense_Mutation_p.D306N|ABAT_ENST00000567812.1_Missense_Mutation_p.D321N|ABAT_ENST00000569156.1_Missense_Mutation_p.D306N|ABAT_ENST00000425191.2_Missense_Mutation_p.D306N	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	306					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CCACGCATCCGATGACTTCTT	0.552000													5	56					0	0	0.014758	0	0
CTNND2	1501	broad.mit.edu	37	5	11364871	11364871	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:11364871G>T	ENST00000304623.8	-	8	1498	c.1309C>A	c.(1309-1311)Ctc>Atc	p.L437I	CTNND2_ENST00000503622.1_Missense_Mutation_p.L100I|CTNND2_ENST00000458100.2_Missense_Mutation_p.L4I|CTNND2_ENST00000359640.2_Missense_Mutation_p.L437I|CTNND2_ENST00000511377.1_Missense_Mutation_p.L346I|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	437					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCTGGCTGAGACTCCTCATA	0.627000													6	66					4.096e-09	5.06611e-09	0.021553	1	0
ATP13A3	79572	broad.mit.edu	37	3	194182898	194182898	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:194182898T>C	ENST00000439040.1	-	3	813	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T8A			Q9H7F0	AT133_HUMAN	ATPase type 13A3	8					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGATTGATGGTCTTCCTTTCT	0.408000													10	138					0	0	0.080935	0	0
TRPC4	7223	broad.mit.edu	37	13	38237583	38237583	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr13:38237583C>A	ENST00000379705.3	-	6	2515	c.1658G>T	c.(1657-1659)aGa>aTa	p.R553I	TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.R553I|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.R380I|TRPC4_ENST00000379673.2_Missense_Mutation_p.R553I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R553I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R553I|TRPC4_ENST00000338947.5_Missense_Mutation_p.R380I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R553I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	553					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTTTTCACATCTTATGCCTTT	0.353000													10	65					2.80697e-09	3.49015e-09	0.080935	1	0
SMURF1	57154	broad.mit.edu	37	7	98655145	98655145	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:98655145A>C	ENST00000361125.1	-	4	552	c.233T>G	c.(232-234)aTt>aGt	p.I78S	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.I78S	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	78	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CCACACGCTAATGGTTATCGA	0.378000													8	57					0	0	0.047766	0	0
ASTN2	23245	broad.mit.edu	37	9	119976896	119976896	+	Silent	SNP	G	G	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr9:119976896G>T	ENST00000313400.4	-	3	856	c.756C>A	c.(754-756)atC>atA	p.I252I	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.I252I|ASTN2_ENST00000373996.3_Silent_p.I252I			O75129	ASTN2_HUMAN	astrotactin 2	252						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GGATGTAGTGGATCTCATGAG	0.627000													34	44					1.06647e-15	1.40012e-15	0.064281	1	0
CNTN6	27255	broad.mit.edu	37	3	1414632	1414632	+	Silent	SNP	T	T	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:1414632T>C	ENST00000446702.2	+	14	2406	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	CNTN6_ENST00000350110.2_Silent_p.I593I|CNTN6_ENST00000539053.1_Silent_p.I521I			Q9UQ52	CNTN6_HUMAN	contactin 6	593					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CCGATATCATTGTTAGAGGTA	0.358000													3	97					0	0	0.047766	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310010	178310010	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:178310010C>T	ENST00000322434.3	+	5	783	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAACTCCATCAAAATGTGAA	0.308000													11	87					0	0	0.069234	0	0
HOXB1	3211	broad.mit.edu	37	17	46607812	46607812	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr17:46607812A>C	ENST00000239174.6	-	1	547	c.455T>G	c.(454-456)tTt>tGt	p.F152C	HOXB1_ENST00000577092.1_Missense_Mutation_p.F152C	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	152						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGGTGCAAAGCTCGCGGT	0.622000													9	85					0	0	0.047766	0	0
RNF123	63891	broad.mit.edu	37	3	49758486	49758487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr3:49758486_49758487insA	ENST00000327697.6	+	38	3916_3917	c.3772_3773insA	c.(3772-3774)tgcfs	p.C1258fs	AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Frame_Shift_Ins_p.C370fs|GMPPB_ENST00000480687.1_3'UTR|GMPPB_ENST00000308375.6_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1258						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CCCCATCTGCTATGCCCACCCC	0.604													24	124	---	---	---	---					
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	RNA	INS	-	-	TAAAA	rs80243332	by1000genomes	TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA																							acccatgcacttaaagttaaaa	0.361													3	4	---	---	---	---					
HIST1H2BF	8343	broad.mit.edu	37	6	26199981	26199983	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr6:26199981_26199983delCTT	ENST00000359985.1	+	1	234_236	c.195_197delCTT	c.(193-198)tcc>tc	p.SF65del		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	65					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				TCATGAACTCCTTCGTCAACGAT	0.581													40	362	---	---	---	---					
NSUN5P1	155400	broad.mit.edu	37	7	75045497	75045497	+	RNA	DEL	G	G	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr7:75045497delG	ENST00000393633.2	+	0	4280																				large_intestine(1)|lung(1)	2						GGGTCGTGGAGGGGGGGGATG	0.657													3	6	---	---	---	---					
C8orf37-AS1	100616530	broad.mit.edu	37	8	96415908	96415913	+	RNA	DEL	TTTTTT	TTTTTT	-	rs59279759		TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr8:96415908_96415913delTTTTTT	ENST00000521905.1	+	0	126																											aataaaAGACtttttttttttttttt	0.325													2	4	---	---	---	---					
USP5	8078	broad.mit.edu	37	12	6972476	6972481	+	In_Frame_Del	DEL	GCCTTG	GCCTTG	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:6972476_6972481delGCCTTG	ENST00000229268.8	+	15	1941_1946	c.1889_1894delGCCTTG	c.(1888-1896)agt>a	p.SLG630del	USP5_ENST00000389231.5_Intron|USP5_ENST00000541969.1_3'UTR	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	630					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CCCAAAGGTAGCCTTGGTTTCTATGG	0.587													22	186	---	---	---	---					
CCDC64	92558	broad.mit.edu	37	12	120527826	120527826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr12:120527826delA	ENST00000397558.2	+	8	1511	c.1511delA	c.(1510-1512)gtfs	p.D504fs	CCDC64_ENST00000257583.4_Frame_Shift_Del_p.D201fs|CCDC64_ENST00000446727.2_Frame_Shift_Del_p.D175fs	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	504					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGTTGCTGGATGCCATTCAG	0.532													34	126	---	---	---	---					
VPS13C	54832	broad.mit.edu	37	15	62254687	62254701	+	In_Frame_Del	DEL	ATACAAATCCAAATT	ATACAAATCCAAATT	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:62254687_62254701delATACAAATCCAAATT	ENST00000261517.5	-	34	3545_3559	c.3472_3486delAATTTGGATTTGTAT	c.(3472-3486)del	p.NLDLY1158del	VPS13C_ENST00000249837.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395898.3_In_Frame_Del_p.NLDLY1115del|VPS13C_ENST00000395896.4_In_Frame_Del_p.NLDLY1158del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1158					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TAGCATCTGGATACAAATCCAAATTAAAACGGAAA	0.367													22	322	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													4	3	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56278955	56278955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr18:56278955delC	ENST00000361673.3	-	2	288	c.75delG	c.(73-75)gafs	p.E25fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	25	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CGTCTGACTTCTCAGGAACCT	0.483													19	207	---	---	---	---					
PEG3	5178	broad.mit.edu	37	19	57325826	57325835	+	Frame_Shift_Del	DEL	AGCTCCTTTG	AGCTCCTTTG	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr19:57325826_57325835delAGCTCCTTTG	ENST00000326441.9	-	10	4338_4347	c.3975_3984delCAAAGGAGCT	c.(3973-3984)ctfs	p.LKGA1325fs	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Frame_Shift_Del_p.LKGA1201fs|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.LKGA1325fs|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.LKGA1199fs|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1325					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAATGGTATAGCTCCTTTGAGGGGCTCAG	0.429													8	142	---	---	---	---					
ZNF337	26152	broad.mit.edu	37	20	25666234	25666234	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5359-01A-01D-1434-08	TCGA-CN-5359-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf1e53d-22dc-4b11-9b3f-e421bc28b835	0aa9f9d9-40fb-4ab2-add5-68931d6367eb	g.chr20:25666234delT	ENST00000376436.1	-	3	758	c.219delA	c.(217-219)gafs	p.E74fs	ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E74fs|ZNF337_ENST00000481610.1_5'UTR					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572													90	507	---	---	---	---					
