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
TIMELESS	8914	broad.mit.edu	37	12	56816656	56816656	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:56816656C>T	ENST00000229201.4	-	19	2564	c.2410G>A	c.(2410-2412)Gag>Aag	p.E804K	TIMELESS_ENST00000553532.1_Missense_Mutation_p.E805K|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	805					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.E805K(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCATAGCCCTCAGTCATCTCT	0.498000													38	59					0	0	0.023175	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269077	82269077	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:82269077C>T	ENST00000429989.2	+	5	523	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TSPAN14_ENST00000372158.1_Silent_p.L100L|TSPAN14_ENST00000372164.3_Silent_p.L83L|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000372156.1_Silent_p.L100L|TSPAN14_ENST00000341863.6_Intron	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14	100						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCATCGTGCTCATCTTCTTCC	0.612000													23	28					0	0	0.018920	0	0
MED13	9969	broad.mit.edu	37	17	60042437	60042437	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:60042437G>C	ENST00000397786.2	-	20	4850	c.4774C>G	c.(4774-4776)Cta>Gta	p.L1592V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1592					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCTGTCTGTAGAGCTGATGTC	0.453000													12	41					0	0	0.010729	0	0
TDRD5	163589	broad.mit.edu	37	1	179659915	179659915	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:179659915C>G	ENST00000444136.1	+	18	3195	c.2945C>G	c.(2944-2946)tCt>tGt	p.S982C	TDRD5_ENST00000294848.8_Missense_Mutation_p.S928C|TDRD5_ENST00000367614.1_Missense_Mutation_p.S928C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	928					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CGTCAAGAATCTGTAGACCAG	0.438000													13	47					0	0	0.016723	0	0
CERS1	10715	broad.mit.edu	37	19	18990068	18990068	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:18990068C>T	ENST00000427170.2	-	5	953	c.882G>A	c.(880-882)atG>atA	p.M294I	CERS1_ENST00000542296.2_Missense_Mutation_p.M196I|GDF1_ENST00000247005.6_5'UTR|CERS1_ENST00000429504.2_Missense_Mutation_p.M294I	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	294	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						AGTAGAGGTTCATAAGGGTGA	0.612000													4	27					0	0	0.009096	0	0
PKD1L2	114780	broad.mit.edu	37	16	81219116	81219116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:81219116C>A	ENST00000599697.1	-	11	1977	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	660	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCTGAGTTCCCAGGGCGCA	0.632000													9	23					0.000274275	0.000283652	0.004482	1	0
AC008103.5	0	broad.mit.edu	37	22	18842424	18842424	+	RNA	SNP	G	G	A	rs9605827		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:18842424G>A	ENST00000412938.1	+	0	2208																											CTGCCCTCGCGGAGTGGGGAA	0.622000													3	19					0	0	0.004482	0	0
DDR1	780	broad.mit.edu	37	6	30862324	30862324	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30862324C>G	ENST00000324771.8	+	13	1937	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	DDR1_ENST00000376570.4_Silent_p.L463L|DDR1_ENST00000376568.3_Silent_p.L463L|DDR1_ENST00000418800.2_Silent_p.L463L|DDR1_ENST00000452441.1_Silent_p.L463L|DDR1_ENST00000454612.2_Silent_p.L463L|DDR1_ENST00000376569.3_Silent_p.L463L|DDR1_ENST00000376567.2_Silent_p.L463L|DDR1_ENST00000508312.1_Silent_p.L481L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.L463L|DDR1_ENST00000376575.3_Silent_p.L463L|DDR1_ENST00000361741.4_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	463					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGGTTCACCTCTCTGTCCCTG	0.632000													46	52					0	0	0.013114	0	0
PLEC	5339	broad.mit.edu	37	8	144996219	144996219	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996219C>T	ENST00000322810.4	-	32	8350	c.8181G>A	c.(8179-8181)gaG>gaA	p.E2727E	PLEC_ENST00000436759.2_Silent_p.E2617E|PLEC_ENST00000398774.2_Silent_p.E2558E|PLEC_ENST00000354958.2_Silent_p.E2568E|PLEC_ENST00000354589.3_Silent_p.E2590E|PLEC_ENST00000357649.2_Silent_p.E2594E|PLEC_ENST00000527096.1_Silent_p.E2613E|PLEC_ENST00000356346.3_Silent_p.E2576E|PLEC_ENST00000345136.3_Silent_p.E2590E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2727	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCTGGTTCTCCTCAGCCA	0.701000													4	27					0	0	0.009096	0	0
WDTC1	23038	broad.mit.edu	37	1	27632792	27632792	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:27632792T>A	ENST00000319394.3	+	16	2487	c.1952T>A	c.(1951-1953)aTc>aAc	p.I651N	WDTC1_ENST00000361771.3_Missense_Mutation_p.I650N	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	651							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGCTACCGGATCACGGGCCTG	0.647000													21	38					0	0	0.014323	0	0
PTPN14	5784	broad.mit.edu	37	1	214549657	214549657	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:214549657G>A	ENST00000366956.5	-	15	3006	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	938	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACGGATTCGGCTGCGCTCG	0.458000													31	55					0	0	0.041601	0	0
ABCA12	26154	broad.mit.edu	37	2	215797408	215797408	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:215797408G>C	ENST00000272895.7	-	53	7957	c.7738C>G	c.(7738-7740)Caa>Gaa	p.Q2580E	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.Q2262E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2580					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTGGAACCTTGGCTGCTGGTA	0.423000													14	42					0	0	0.020292	0	0
TRPA1	8989	broad.mit.edu	37	8	72958807	72958807	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958807C>G	ENST00000262209.4	-	17	2209	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	668						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGGTGAATTCTAATGGACAT	0.294000													11	38					0	0	0.013537	0	0
APBA3	9546	broad.mit.edu	37	19	3759797	3759797	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:3759797C>G	ENST00000316757.3	-	2	666	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	156					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCCCTCCACCCATTCT	0.642000													10	33					0	0	0.008291	0	0
MAATS1	89876	broad.mit.edu	37	3	119462951	119462951	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:119462951G>A	ENST00000273390.5	+	14	1887	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CATGCTGGCTGAGCGCCAGCG	0.572000													33	78					0	0	0.027894	0	0
OR4S1	256148	broad.mit.edu	37	11	48328704	48328704	+	Splice_Site	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:48328704A>G	ENST00000319988.1	+	1	930	c.927_splice	c.e1+1	p.*310_splice		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGAGAAGTGACATTCCAGAG	0.428000													10	33					0	0	0.008291	0	0
KSR2	283455	broad.mit.edu	37	12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:118105354G>A	ENST00000425217.1	-	5	1063	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R63C|KSR2_ENST00000339824.5_Missense_Mutation_p.R366C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602000													11	19					0	0	0.008291	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	22					0	0	0.014758	0	0
TRPA1	8989	broad.mit.edu	37	8	72958791	72958791	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:72958791G>T	ENST00000262209.4	-	17	2225	c.2018C>A	c.(2017-2019)aCa>aAa	p.T673K	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	673						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGTGTAGGTGTTTTTTTGGT	0.269000													19	45					3.8784e-16	4.38586e-16	0.012319	1	0
DCHS2	54798	broad.mit.edu	37	4	155161884	155161884	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:155161884A>G	ENST00000357232.3	-	23	5798	c.5799T>C	c.(5797-5799)aaT>aaC	p.N1933N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1933	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTTCCAGGATTACTCTCTT	0.383000													16	55					0	0	0.024245	0	0
HUWE1	10075	broad.mit.edu	37	X	53589155	53589155	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53589155C>T	ENST00000342160.3	-	53	7712	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E2419K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2419	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGTCCTCTTCCTGAGTG	0.498000													17	12					0	0	0.033300	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102504835	102504835	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:102504835G>C	ENST00000360184.4	+	58	11111	c.10947G>C	c.(10945-10947)ctG>ctC	p.L3649L	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3649	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGGTGCTGAACCGTGAAG	0.542000													7	34					0	0	0.008291	0	0
DDR1	780	broad.mit.edu	37	6	30860256	30860256	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30860256C>T	ENST00000324771.8	+	10	1584	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	DDR1_ENST00000376570.4_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L346L|DDR1_ENST00000418800.2_Silent_p.L346L|DDR1_ENST00000452441.1_Silent_p.L346L|DDR1_ENST00000454612.2_Silent_p.L346L|DDR1_ENST00000376569.3_Silent_p.L346L|DDR1_ENST00000376567.2_Silent_p.L346L|DDR1_ENST00000508312.1_Silent_p.L364L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Silent_p.L346L|DDR1_ENST00000376575.3_Silent_p.L346L|DDR1_ENST00000361741.4_Silent_p.L77L			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	346					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GGCTCGCTTTCTGCAGTGCCG	0.637000													35	33					0	0	0.012213	0	0
GPATCH8	23131	broad.mit.edu	37	17	42483420	42483420	+	Splice_Site	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:42483420C>G	ENST00000434000.1	-	8	541		c.e8-1		GPATCH8_ENST00000591680.1_Splice_Site			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8							intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTTTAATCTCTGGGTTAAAA	0.433000													18	29					0	0	0.038395	0	0
FLII	2314	broad.mit.edu	37	17	18151261	18151261	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:18151261C>T	ENST00000327031.4	-	19	2502	c.2277G>A	c.(2275-2277)ctG>ctA	p.L759L	FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.L704L|FLII_ENST00000579294.1_Silent_p.L748L|FLII_ENST00000379450.4_Silent_p.L673L	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	759	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TTCTTGGCATCAGCTCCACCT	0.617000													32	73					0	0	0.012213	0	0
C2CD3	26005	broad.mit.edu	37	11	73789689	73789689	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:73789689C>G	ENST00000334126.7	-	23	4300	c.4074G>C	c.(4072-4074)aaG>aaC	p.K1358N	C2CD3_ENST00000313663.7_Missense_Mutation_p.K1358N			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1358						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CACCCACGATCTTCTGCATGA	0.498000													41	71					0	0	0.027894	0	0
NKAP	79576	broad.mit.edu	37	X	119066103	119066103	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:119066103C>G	ENST00000371410.3	-	6	980	c.814G>C	c.(814-816)Gag>Cag	p.E272Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	272	Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TCCAGAAACTCTTCTTGGGAT	0.353000													74	51					0	0	0.014410	0	0
SOCS7	30837	broad.mit.edu	37	17	36552194	36552194	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36552194G>A	ENST00000577233.1	+	9	1719	c.1719G>A	c.(1717-1719)caG>caA	p.Q573Q	SOCS7_ENST00000331159.5_Silent_p.Q539Q	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	573					intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TTTCCAAACAGAAGCAAGAGG	0.512000													18	31					0	0	0.038395	0	0
RNF14	9604	broad.mit.edu	37	5	141358039	141358039	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358039C>G	ENST00000394520.2	+	5	787	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Missense_Mutation_p.Q34E|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Missense_Mutation_p.Q160E|RNF14_ENST00000356143.1_Missense_Mutation_p.Q160E|RNF14_ENST00000347642.3_Missense_Mutation_p.Q160E|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	160					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		AAGGACAGCTCAAGCTTCTCC	0.443000													6	15					0	0	0.021553	0	0
AKAP1	8165	broad.mit.edu	37	17	55182885	55182885	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:55182885C>A	ENST00000337714.3	+	2	293	c.60C>A	c.(58-60)ctC>ctA	p.L20L	AKAP1_ENST00000572557.1_Silent_p.L20L|AKAP1_ENST00000539273.1_Silent_p.L20L|AKAP1_ENST00000571629.1_Silent_p.L20L|AKAP1_ENST00000314126.3_Silent_p.L20L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	20					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	p.L20L(1)		endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGCGCTCCTCGGCTGGTGGT	0.577000													22	32					1.87028e-06	1.97646e-06	0.012319	1	0
EGF	1950	broad.mit.edu	37	4	110866313	110866313	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:110866313A>G	ENST00000265171.5	+	5	1267	c.822A>G	c.(820-822)aaA>aaG	p.K274K	EGF_ENST00000509793.1_Silent_p.K274K|EGF_ENST00000503392.1_Silent_p.K274K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	274					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGCCAACAAACACACTGGAA	0.398000													7	23					0	0	0.029380	0	0
LACTB	114294	broad.mit.edu	37	15	63419597	63419597	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:63419597C>T	ENST00000413507.2	+	4	700	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Missense_Mutation_p.R221C	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	221						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTGGAATTCGTCATTATGA	0.299000													34	85					0	0	0.021022	0	0
CARF	79800	broad.mit.edu	37	2	203834680	203834680	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:203834680G>C	ENST00000320443.8	+	10	2035	c.992G>C	c.(991-993)aGa>aCa	p.R331T	CARF_ENST00000545253.1_Missense_Mutation_p.R243T|CARF_ENST00000402905.2_Missense_Mutation_p.R331T|CARF_ENST00000438828.2_Missense_Mutation_p.R331T|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.R229T|CARF_ENST00000428585.1_Missense_Mutation_p.R255T|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000545262.1_Missense_Mutation_p.R255T					calcium responsive transcription factor																		CCTGAATATAGAGTTCCTACA	0.308000													15	22					0	0	0.020292	0	0
CYP4A11	1579	broad.mit.edu	37	1	47395807	47395807	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47395807C>T	ENST00000310638.4	-	12	1571	c.1540G>A	c.(1540-1542)Gaa>Aaa	p.E514K	CYP4A11_ENST00000371904.4_Missense_Mutation_p.E515K|CYP4A11_ENST00000475477.1_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	514			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TCCTTGTCTTCACAAGGGTTA	0.562000													11	43					0	0	0.010729	0	0
MYH7	4625	broad.mit.edu	37	14	23893298	23893298	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:23893298G>T	ENST00000355349.3	-	23	2902	c.2740C>A	c.(2740-2742)Cag>Aag	p.Q914K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	914					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCCAGCTGAATCTTGTTT	0.532000													28	66					2.44723e-14	2.72917e-14	0.024334	1	0
RASA1	5921	broad.mit.edu	37	5	86675622	86675622	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:86675622C>G	ENST00000456692.2	+	19	2142	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*	RASA1_ENST00000512763.1_Nonsense_Mutation_p.S686*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.S687*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.S853*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	853	C2.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AACATACTTTCAGAGCTTGTG	0.303000													14	17					0	0	0.028581	0	0
SERAC1	84947	broad.mit.edu	37	6	158535902	158535902	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:158535902G>A	ENST00000367104.3	-	15	1734	c.1603C>T	c.(1603-1605)Cat>Tat	p.H535Y	SERAC1_ENST00000367101.1_3'UTR|SERAC1_ENST00000367102.2_3'UTR	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	535					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGTGATCCATGATGAGGGACA	0.383000													62	110					0	0	0.014410	0	0
POM121L12	285877	broad.mit.edu	37	7	53103452	53103452	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103452G>A	ENST00000408890.4	+	1	104	c.88G>A	c.(88-90)Gcg>Acg	p.A30T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	30										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGCCCTGGCGGCTCCCAT	0.697000													13	42					0	0	0.024245	0	0
STX18	53407	broad.mit.edu	37	4	4458949	4458949	+	Silent	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:4458949G>T	ENST00000306200.2	-	5	529	c.466C>A	c.(466-468)Cga>Aga	p.R156R	STX18_ENST00000505286.1_Silent_p.R156R	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	156					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTTTTAACTCGGATGGCTCTC	0.343000													7	26					3.09899e-07	3.31838e-07	0.004482	1	0
MFRP	83552	broad.mit.edu	37	11	119214569	119214569	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:119214569C>A	ENST00000555262.1	-	9	1240	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L	MFRP_ENST00000360167.4_Intron|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Missense_Mutation_p.V361L|MFRP_ENST00000530681.1_Missense_Mutation_p.V361L	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		GTCTCATACACCTCCACGTAG	0.582000													38	83					4.32679e-17	4.91589e-17	0.027894	1	0
LOX	4015	broad.mit.edu	37	5	121405752	121405752	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:121405752A>T	ENST00000231004.4	-	6	1542	c.1243T>A	c.(1243-1245)Tca>Aca	p.S415T	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	415	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		ACTTACGGTGAAATTGTGCAG	0.403000													31	35					0	0	0.041601	0	0
SDF4	51150	broad.mit.edu	37	1	1163936	1163936	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1163936C>G	ENST00000263741.7	-	2	530	c.238G>C	c.(238-240)Gag>Cag	p.E80Q	SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.E80Q|SDF4_ENST00000360001.6_Missense_Mutation_p.E80Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	80					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		AGGAAGACCTCCTGGTGGAAG	0.617000													17	31					0	0	0.033300	0	0
CPT1C	126129	broad.mit.edu	37	19	50204760	50204760	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50204760G>C	ENST00000392518.4	+	7	934	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	CPT1C_ENST00000323446.5_Missense_Mutation_p.E188Q|CPT1C_ENST00000598293.1_Missense_Mutation_p.E188Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.E188Q|CPT1C_ENST00000354199.5_Missense_Mutation_p.E188Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	188					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTAGTACCTGGAGTCGGTCCG	0.706000													14	32					0	0	0.024245	0	0
UGT2A1	10941	broad.mit.edu	37	4	70512979	70512979	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:70512979G>A	ENST00000503640.1	-	1	439	c.384C>T	c.(382-384)ggC>ggT	p.G128G	UGT2A1_ENST00000286604.4_Silent_p.G128G|UGT2A1_ENST00000512704.1_Silent_p.G128G|UGT2A1_ENST00000514019.1_Silent_p.G128G	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	128					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTAAGAACGCCATCACAGA	0.418000													19	36					0	0	0.038395	0	0
LOC102546299	102546299	broad.mit.edu	37	5	164028158	164028158	+	RNA	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:164028158G>A	ENST00000486913.3	+	0	336				CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA																							TGCCGTTGTAGACGCCCACCC	0.592000													11	6					0	0	0.008291	0	0
DFNA5	1687	broad.mit.edu	37	7	24784316	24784316	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:24784316C>A	ENST00000342947.3	-	3	694	c.269G>T	c.(268-270)gGa>gTa	p.G90V	DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000409775.3_Missense_Mutation_p.G90V|DFNA5_ENST00000409970.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	90					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CTCCAGGGTTCCACTCACGTG	0.562000													50	48					7.89702e-26	9.14392e-26	0.014410	1	0
IFLTD1	160492	broad.mit.edu	37	12	25672833	25672833	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:25672833G>C	ENST00000539744.1	-	7	1100	c.621C>G	c.(619-621)atC>atG	p.I207M	IFLTD1_ENST00000445693.1_Missense_Mutation_p.I241M|IFLTD1_ENST00000413632.2_Missense_Mutation_p.I285M|IFLTD1_ENST00000282881.6_Missense_Mutation_p.I304M|IFLTD1_ENST00000458174.2_Missense_Mutation_p.I325M	NM_001256266.1	NP_001243195.1	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	304						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GATAATTTGAGATATCTTTCT	0.373000													18	40					0	0	0.038395	0	0
DNAH11	8701	broad.mit.edu	37	7	21847506	21847506	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:21847506A>G	ENST00000328843.6	+	64	10223	c.10192A>G	c.(10192-10194)Att>Gtt	p.I3398V	DNAH11_ENST00000409508.3_Missense_Mutation_p.I3391V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3398	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTCAGAGAAGATTCGCTGGGG	0.443000									Kartagener syndrome				15	14					0	0	0.033300	0	0
VCAN	1462	broad.mit.edu	37	5	82834175	82834175	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:82834175G>T	ENST00000265077.3	+	8	5918	c.5353G>T	c.(5353-5355)Gaa>Taa	p.E1785*	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.E798*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1785	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.E1785*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GTCTGAAAGGGAAATGACAGA	0.403000													27	24					2.24059e-21	2.55766e-21	0.030593	1	0
KNTC1	9735	broad.mit.edu	37	12	123061462	123061462	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:123061462C>G	ENST00000333479.7	+	30	2784	c.2607C>G	c.(2605-2607)ctC>ctG	p.L869L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	869					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GATACATTCTCAAACAAGATG	0.348000													14	21					0	0	0.020292	0	0
OR2M5	127059	broad.mit.edu	37	1	248309245	248309245	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248309245C>T	ENST00000366476.1	+	1	796	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CACATCTGATCGCTCCCCTAT	0.522000													65	94					0	0	0.014410	0	0
ABCA2	20	broad.mit.edu	37	9	139910605	139910605	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139910605G>C	ENST00000265662.5	-	22	3273	c.3126C>G	c.(3124-3126)ttC>ttG	p.F1042L	ABCA2_ENST00000371605.3_Missense_Mutation_p.F1041L|ABCA2_ENST00000341511.6_Missense_Mutation_p.F1042L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1041	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTTGGAGGGAACAGGCCGG	0.652000													44	63					0	0	0.013114	0	0
PLOD1	5351	broad.mit.edu	37	1	12024727	12024727	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:12024727C>G	ENST00000196061.4	+	13	1382	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*	PLOD1_ENST00000376369.3_Nonsense_Mutation_p.S499*	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	452					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCTATATTTCAAACATCTAC	0.587000													52	68					0	0	0.014410	0	0
ZNF835	90485	broad.mit.edu	37	19	57174961	57174961	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57174961C>G	ENST00000537055.2	-	2	1837	c.1606G>C	c.(1606-1608)Gaa>Caa	p.E536Q		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TCTTAATCTTCTGCTGGTCCA	0.577000													27	31					0	0	0.030593	0	0
NAT8	9027	broad.mit.edu	37	2	73868736	73868736	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:73868736C>G	ENST00000272425.3	-	2	169	c.20G>C	c.(19-21)cGc>cCc	p.R7P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	7					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						CTGGTATTTGCGGATGTGACA	0.592000													33	84					0	0	0.041601	0	0
RGL1	23179	broad.mit.edu	37	1	183816705	183816705	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:183816705A>G	ENST00000304685.3	+	4	710	c.249A>G	c.(247-249)gaA>gaG	p.E83E	RGL1_ENST00000360851.3_Silent_p.E48E|RGL1_ENST00000367531.1_Silent_p.E83E|RGL1_ENST00000539189.1_Silent_p.E48E|RGL1_ENST00000536277.1_Silent_p.E46E	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	48	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						TACAGGTTGAAGGGGACCAGC	0.418000													3	172					0	0	0.014758	0	0
MUC1	4582	broad.mit.edu	37	1	155161971	155161971	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:155161971C>G	ENST00000368395.1	-	2	233	c.162G>C	c.(160-162)gtG>gtC	p.V54V	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	836						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTCATACTCACAGCATTCT	0.577000			T	IGH@	B-NHL								21	115					0	0	0.012319	0	0
C1orf127	148345	broad.mit.edu	37	1	11007909	11007909	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:11007909C>T	ENST00000377004.4	-	12	2282	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L	C1orf127_ENST00000377008.4_Silent_p.L594L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	612										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCACAGGCTCAGGGTTTGCG	0.662000													5	29					0	0	0.014758	0	0
SYNE3	161176	broad.mit.edu	37	14	95906295	95906295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:95906295C>G	ENST00000334258.5	-	11	2043	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	SYNE3_ENST00000554873.1_Missense_Mutation_p.E434Q|SYNE3_ENST00000557275.1_Missense_Mutation_p.E677Q	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						GGGCCCGCCTCTCCCCGGTGT	0.637000													75	66					0	0	0.014410	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499666	104499666	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:104499666A>G	ENST00000361820.3	-	1	1196	c.596T>C	c.(595-597)tTc>tCc	p.F199S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	199					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GCTCTGGGGGAAGGCGAGCAG	0.587000													3	100					0	0	0.004672	0	0
MAG	4099	broad.mit.edu	37	19	35790470	35790470	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:35790470C>T	ENST00000361922.4	+	5	579	c.429C>T	c.(427-429)atC>atT	p.I143I	MAG_ENST00000597035.1_3'UTR|MAG_ENST00000537831.2_Silent_p.I118I|MAG_ENST00000392213.3_Silent_p.I143I	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	143	Ig-like C2-type 1.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCCAACATCGTGGTGCCCC	0.672000													3	19					0	0	0.004672	0	0
RNF14	9604	broad.mit.edu	37	5	141358012	141358012	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:141358012C>T	ENST00000394520.2	+	5	760	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_Nonsense_Mutation_p.Q25*|RNF14_ENST00000394515.3_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000356143.1_Nonsense_Mutation_p.Q151*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.Q151*|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	151					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATTGGTTCTCAGAAAAAAGT	0.463000													11	11					0	0	0.008291	0	0
ZFP28	140612	broad.mit.edu	37	19	57061542	57061542	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:57061542G>T	ENST00000301318.3	+	6	865	c.794G>T	c.(793-795)gGa>gTa	p.G265V	AC007228.11_ENST00000596587.1_RNA|ZFP28_ENST00000591844.1_Missense_Mutation_p.G265V	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	265	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGTGACCTGGGATCAGCAGGT	0.478000													5	9					3.59834e-05	3.78608e-05	0.021553	1	0
RALGDS	5900	broad.mit.edu	37	9	136030585	136030585	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:136030585G>A	ENST00000542690.1	-	6	656	c.376C>T	c.(376-378)Cac>Tac	p.H126Y	GBGT1_ENST00000372040.3_Silent_p.V113V|GBGT1_ENST00000372043.3_Silent_p.V113V|GBGT1_ENST00000372038.3_Missense_Mutation_p.H126Y|GBGT1_ENST00000540636.1_Silent_p.V96V|GBGT1_ENST00000472281.1_5'UTR			Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	0	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CAAACACCGTGACCCCAATGG	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								35	56					0	0	0.019004	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197074	26197074	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26197074C>A	ENST00000377831.5	-	2	858	c.405G>T	c.(403-405)agG>agT	p.R135S	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.R135S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	135				Missing (in Ref. 2; AAA52651).	blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CAATTTACGCCCTCTCCCCAC	0.502000													28	40					7.26314e-15	8.17526e-15	0.034045	1	0
TRPS1	7227	broad.mit.edu	37	8	116631735	116631735	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:116631735G>C	ENST00000395715.3	-	3	1167	c.590C>G	c.(589-591)tCa>tGa	p.S197*	TRPS1_ENST00000519076.1_Nonsense_Mutation_p.S138*|TRPS1_ENST00000520276.1_Nonsense_Mutation_p.S188*|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.S184*|TRPS1_ENST00000220888.5_Nonsense_Mutation_p.S184*	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	184					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGGGTTTTTTGAGGCCACTGA	0.483000									Langer-Giedion syndrome				21	139					0	0	0.008871	0	0
DST	667	broad.mit.edu	37	6	56338733	56338733	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:56338733C>T	ENST00000370754.5	-	93	21838	c.21839G>A	c.(21838-21840)aGa>aAa	p.R7280K	DST_ENST00000370769.4_Missense_Mutation_p.R7102K|DST_ENST00000370788.2_Missense_Mutation_p.R4905K|DST_ENST00000446842.2_Missense_Mutation_p.R6776K|DST_ENST00000421834.2_Missense_Mutation_p.R5014K|DST_ENST00000244364.6_Missense_Mutation_p.R4688K|DST_ENST00000361203.3_Missense_Mutation_p.R6991K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7100	GAR.				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)			ATCAGCAGCTCTCCTCTTATA	0.373000													11	5					0	0	0.008291	0	0
C1orf168	199920	broad.mit.edu	37	1	57216842	57216842	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:57216842T>C	ENST00000343433.6	-	9	1342	c.1262A>G	c.(1261-1263)cAg>cGg	p.Q421R	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	421								p.Q421L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTTGGTCATCTGAATTTTTTC	0.458000													3	48					0	0	0.004672	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128984583	128984583	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:128984583G>C	ENST00000274487.4	+	13	2223	c.2078G>C	c.(2077-2079)aGa>aCa	p.R693T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	693	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCTGGATTCAGAGACTGGCAA	0.448000													48	44					0	0	0.014410	0	0
MLLT6	4302	broad.mit.edu	37	17	36869265	36869265	+	Silent	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36869265G>T	ENST00000378137.5	+	9	970	c.879G>T	c.(877-879)ctG>ctT	p.L293L	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	622					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGTGCTGTCTGCCAGATACTC	0.602000			T	MLL	AL								19	65					3.32936e-07	3.54936e-07	0.038395	1	0
CSPG4	1464	broad.mit.edu	37	15	75982391	75982391	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:75982391G>A	ENST00000308508.5	-	3	1107	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	339	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCCCAGGCGGTGTTCCTGG	0.642000													5	37					0	0	0.029380	0	0
CUEDC2	79004	broad.mit.edu	37	10	104184490	104184490	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:104184490G>C	ENST00000369937.4	-	3	279	c.134C>G	c.(133-135)tCg>tGg	p.S45W		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	45						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGATGGGCCCGAGGGGCCCAG	0.587000													30	43					0	0	0.034045	0	0
MLLT6	4302	broad.mit.edu	37	17	36872785	36872785	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:36872785C>T	ENST00000325718.7	+	10	1293	c.1202C>T	c.(1201-1203)tCt>tTt	p.S401F	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	401					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTGGTCTTCTCTGGCTTTGGG	0.657000			T	MLL	AL								30	42					0	0	0.013726	0	0
PGAP3	93210	broad.mit.edu	37	17	37840929	37840929	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:37840929C>T	ENST00000300658.4	-	3	445	c.353G>A	c.(352-354)aGc>aAc	p.S118N	PGAP3_ENST00000579146.1_Missense_Mutation_p.S118N|PGAP3_ENST00000429199.2_Missense_Mutation_p.S118N|PGAP3_ENST00000378011.4_Intron	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	118					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CATCACCAGGCTGGCCAGGCC	0.602000													18	26					0	0	0.038395	0	0
CSPG4	1464	broad.mit.edu	37	15	75982360	75982360	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:75982360G>A	ENST00000308508.5	-	3	1138	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	349	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGCAGGGAGGCATTGGTGGC	0.667000													3	30					0	0	0.004672	0	0
DDR1	780	broad.mit.edu	37	6	30859860	30859860	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:30859860C>G	ENST00000446312.1	+	8	980	c.647C>G	c.(646-648)tCt>tGt	p.S216C	DDR1_ENST00000376570.4_Silent_p.V249V|DDR1_ENST00000324771.8_Silent_p.V249V|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376568.3_Silent_p.V249V|DDR1_ENST00000418800.2_Silent_p.V249V|DDR1_ENST00000452441.1_Silent_p.V249V|DDR1_ENST00000454612.2_Silent_p.V249V|DDR1_ENST00000376569.3_Silent_p.V249V|DDR1_ENST00000376567.2_Silent_p.V249V|DDR1_ENST00000508312.1_Silent_p.V267V|DDR1_ENST00000513240.1_Silent_p.V249V|DDR1_ENST00000376575.3_Silent_p.V249V|DDR1_ENST00000361741.4_5'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	0					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGCTGCGGGTCTGGCCAGGCT	0.577000													54	89					0	0	0.014410	0	0
ZUFSP	221302	broad.mit.edu	37	6	116968707	116968707	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:116968707C>G	ENST00000368576.3	-	8	1626	c.1383G>C	c.(1381-1383)tgG>tgC	p.W461C		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	461						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGTTCAATATCCATTCAAATA	0.353000													21	54					0	0	0.010504	0	0
DOCK1	1793	broad.mit.edu	37	10	129141970	129141970	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:129141970G>C	ENST00000280333.6	+	31	3230	c.3121G>C	c.(3121-3123)Gag>Cag	p.E1041Q	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1041					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTGCAACTGGAGAATTTTTC	0.433000													2	7					0	0	0.004672	0	0
IL16	3603	broad.mit.edu	37	15	81565513	81565513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:81565513G>T	ENST00000394660.2	+	6	1118	c.758G>T	c.(757-759)gGa>gTa	p.G253V	IL16_ENST00000302987.4_Missense_Mutation_p.G253V	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	253	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TTTGCAGGGGGAGCAGCAGCA	0.522000													18	42					6.49762e-13	7.14738e-13	0.038395	1	0
POM121L12	285877	broad.mit.edu	37	7	53103987	53103987	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103987G>A	ENST00000408890.4	+	1	639	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	208										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTGGCAGGCGGAACCTGCAG	0.667000													42	59					0	0	0.036044	0	0
ITSN1	6453	broad.mit.edu	37	21	35208792	35208792	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr21:35208792G>C	ENST00000381318.3	+	29	3805	c.3517G>C	c.(3517-3519)Gag>Cag	p.E1173Q	ITSN1_ENST00000379960.5_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.E1097Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.E1168Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.E1168Q|ITSN1_ENST00000399353.1_Missense_Mutation_p.E1131Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.E1102Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.E1168Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.E1173Q|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1173	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAATGACGATGAGCTGGCCTT	0.572000													19	26					0	0	0.038395	0	0
GCN1L1	10985	broad.mit.edu	37	12	120600729	120600729	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:120600729C>T	ENST00000300648.6	-	20	2097	c.2085G>A	c.(2083-2085)aaG>aaA	p.K695K		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	695					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGATCGATCTTCATCCTGG	0.557000													38	74					0	0	0.021022	0	0
A1BG	1	broad.mit.edu	37	19	58863922	58863922	+	Splice_Site	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58863922C>T	ENST00000263100.3	-	4	402		c.e4-1		A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein							extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCAAGGACTCTGTGGGTGGG	0.602000													16	115					0	0	0.028581	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043802	26043802	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:26043802C>G	ENST00000357905.2	-	1	83	c.84G>C	c.(82-84)aaG>aaC	p.K28N		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	28					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCTTACGCTTCTTACCATCCT	0.507000													38	117					0	0	0.021022	0	0
NPTXR	23467	broad.mit.edu	37	22	39222541	39222541	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:39222541C>T	ENST00000333039.2	-	3	1185	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	354	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					GCTCATGGCCCGCCTCTAGCA	0.667000													15	95					0	0	0.033300	0	0
ZZEF1	23140	broad.mit.edu	37	17	3981229	3981229	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:3981229C>T	ENST00000381638.2	-	19	3061	c.2937G>A	c.(2935-2937)ctG>ctA	p.L979L	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	979							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCGTGCTCTTCAGCTGCAGGT	0.512000													24	46					0	0	0.021523	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404539	61404539	+	RNA	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:61404539C>G	ENST00000496593.1	+	0	1143					NR_002775.2																						GAATACTGGTCTGGACCCCGA	0.542000													15	25					0	0	0.020292	0	0
TTLL2	83887	broad.mit.edu	37	6	167753771	167753771	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:167753771C>T	ENST00000239587.5	+	3	471	c.383C>T	c.(382-384)tCc>tTc	p.S128F		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	128	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGGACATCCTCTTTCCGA	0.537000													5	24					0	0	0.014758	0	0
ZNF182	7569	broad.mit.edu	37	X	47837109	47837109	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:47837109T>C	ENST00000396965.1	-	7	727	c.377A>G	c.(376-378)aAg>aGg	p.K126R	ZNF182_ENST00000376943.3_Missense_Mutation_p.K107R|ZNF182_ENST00000305127.6_Missense_Mutation_p.K126R	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						AATTGTTTTCTTGTCAGAAAA	0.383000													14	8					0	0	0.016723	0	0
SHC4	399694	broad.mit.edu	37	15	49126974	49126974	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:49126974C>T	ENST00000332408.4	-	11	2157	c.1729G>A	c.(1729-1731)Gaa>Aaa	p.E577K	SHC4_ENST00000396535.3_Missense_Mutation_p.E334K|SHC4_ENST00000537958.1_Missense_Mutation_p.E291K	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	577	SH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ACCTTGCCTTCAGGATCCACC	0.453000													33	85					0	0	0.015359	0	0
MOCS1	4337	broad.mit.edu	37	6	39874211	39874211	+	Silent	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:39874211G>T	ENST00000308559.7	-	10	1918	c.1785C>A	c.(1783-1785)gtC>gtA	p.V595V	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373175.4_3'UTR|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Silent_p.V611V|MOCS1_ENST00000373195.3_Silent_p.V508V|MOCS1_ENST00000340692.5_Silent_p.V611V			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	611	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCCTGCTGACAGCCTTGC	0.627000													72	96					3.61411e-23	4.16483e-23	0.014410	1	0
SLC37A4	2542	broad.mit.edu	37	11	118895769	118895769	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:118895769C>T	ENST00000545985.1	-	11	1897	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R	SLC37A4_ENST00000357590.5_Missense_Mutation_p.G403R|TRAPPC4_ENST00000533058.1_3'UTR|SLC37A4_ENST00000330775.7_Missense_Mutation_p.G402R|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Missense_Mutation_p.G308R	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	381					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AAGGGCAGCCCAGCCAGAAAG	0.582000													30	53					0	0	0.041601	0	0
CUL7	9820	broad.mit.edu	37	6	43007895	43007895	+	Splice_Site	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43007895C>G	ENST00000535468.1	-	22	4631	c.4546_splice	c.e22+1	p.K1515_splice	CUL7_ENST00000265348.3_Splice_Site_p.K1431_splice	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1431					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCTGCTCACTCTTGTTGTAGA	0.592000													23	112					0	0	0.016522	0	0
LCT	3938	broad.mit.edu	37	2	136579616	136579616	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:136579616C>A	ENST00000264162.2	-	5	970	c.960G>T	c.(958-960)ctG>ctT	p.L320L	AC011893.3_ENST00000437007.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	320	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATGAACAACTCAGAAACTCAT	0.313000													13	31					1.05317e-09	1.1429e-09	0.020292	1	0
NAT8	9027	broad.mit.edu	37	2	73868737	73868737	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:73868737G>A	ENST00000272425.3	-	2	168	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	7					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TGGTATTTGCGGATGTGACAA	0.592000													32	83					0	0	0.037714	0	0
OR2T6	254879	broad.mit.edu	37	1	248551737	248551737	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:248551737C>A	ENST00000355728.2	+	1	828	c.828C>A	c.(826-828)gcC>gcA	p.A276A		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCTGCCTTTTATACCA	0.463000													16	69					4.7546e-09	5.11384e-09	0.028581	1	0
UBALD1	124402	broad.mit.edu	37	16	4664715	4664715	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:4664715C>G	ENST00000590965.1	-	1	160	c.84G>C	c.(82-84)gcG>gcC	p.A28A	UBALD1_ENST00000591401.1_Silent_p.A28A|UBALD1_ENST00000587615.1_Silent_p.A28A|UBALD1_ENST00000587649.1_Silent_p.A28A|UBALD1_ENST00000283474.7_Silent_p.A28A|UBALD1_ENST00000591897.1_Intron					UBA-like domain containing 1																		GCAGTTGCTTCGCCTGGTCGG	0.731000													4	23					0	0	0.014758	0	0
MYO3A	53904	broad.mit.edu	37	10	26409613	26409613	+	Silent	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:26409613T>C	ENST00000265944.5	+	18	1951	c.1785T>C	c.(1783-1785)ggT>ggC	p.G595G	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	595	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAACTTGGTAGTATATACA	0.438000													12	70					0	0	0.010729	0	0
BBS2	583	broad.mit.edu	37	16	56539947	56539947	+	Splice_Site	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:56539947G>A	ENST00000245157.5	-	7	1139	c.717_splice	c.e7-1	p.S240_splice	BBS2_ENST00000568104.1_Splice_Site_p.S240_splice|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	240					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ATGATTTTTCGACTGAAAAAG	0.343000									Bardet-Biedl syndrome				10	24					0	0	0.006214	0	0
MAGI2	9863	broad.mit.edu	37	7	78636436	78636436	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:78636436G>T	ENST00000354212.4	-	2	641	c.388C>A	c.(388-390)Cgt>Agt	p.R130S	MAGI2_ENST00000522391.1_Missense_Mutation_p.R130S|MAGI2_ENST00000419488.1_Missense_Mutation_p.R130S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	130	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTTGTCACGAATGATTTGC	0.363000													27	34					4.87955e-14	5.41675e-14	0.027356	1	0
HIST2H3D	653604	broad.mit.edu	37	1	149784921	149784921	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:149784921C>T	ENST00000331491.1	-	1	315	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	106					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TTCGTGTCTTCGAACAGCCCC	0.652000													11	51					0	0	0.033300	0	0
SYCP1	6847	broad.mit.edu	37	1	115398091	115398091	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:115398091A>C	ENST00000369522.3	+	2	246	c.6A>C	c.(4-6)gaA>gaC	p.E2D	SYCP1_ENST00000369518.1_Missense_Mutation_p.E2D	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	2					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAATGGAAAAGCAAAAGC	0.483000													16	44					0	0	0.028581	0	0
NT5C1A	84618	broad.mit.edu	37	1	40129051	40129051	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:40129051G>C	ENST00000235628.1	-	4	488	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	163					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GATAGGCCTTGAGGTAGCAGA	0.532000													23	29					0	0	0.012319	0	0
CDR2L	30850	broad.mit.edu	37	17	72997458	72997458	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:72997458C>T	ENST00000337231.5	+	3	627	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	72												all_lung(278;0.226)					CAGCTGGACACGCTGCGGCAC	0.562000													6	21					0	0	0.029380	0	0
CYCS	54205	broad.mit.edu	37	7	25163649	25163649	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:25163649C>T	ENST00000305786.2	-	2	259	c.90G>A	c.(88-90)ggG>ggA	p.G30G	CYCS_ENST00000409409.1_Silent_p.G30G|CYCS_ENST00000409764.1_Silent_p.G30G	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	30					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443000													4	86					0	0	0.009096	0	0
PTOV1	53635	broad.mit.edu	37	19	50361359	50361359	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50361359G>A	ENST00000391842.1	+	9	1094	c.924G>A	c.(922-924)ccG>ccA	p.P308P	PTOV1_ENST00000221557.9_Silent_p.P276P|PTOV1_ENST00000601638.1_Silent_p.P276P|PTOV1_ENST00000600603.1_Silent_p.P276P|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000601675.1_Silent_p.P308P|PTOV1_ENST00000599732.1_Silent_p.P308P|AC018766.5_ENST00000593654.1_RNA	NM_017432.3	NP_059128.2	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	308	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGCTCATCCCGCAGCAGCTGC	0.687000													12	30					0	0	0.010729	0	0
ANKAR	150709	broad.mit.edu	37	2	190571721	190571721	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190571721A>G	ENST00000520309.1	+	9	2056	c.1968A>G	c.(1966-1968)caA>caG	p.Q656Q	ANKAR_ENST00000438402.2_Silent_p.Q656Q|ANKAR_ENST00000281412.6_Silent_p.Q420Q|ANKAR_ENST00000431575.2_Silent_p.Q585Q|ANKAR_ENST00000313581.4_Silent_p.Q656Q	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	656						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACACTATTCAATACCTGTTTT	0.353000													10	66					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179579947	179579947	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:179579947T>C	ENST00000589042.1	-	90	26190	c.25966A>G	c.(25966-25968)Aaa>Gaa	p.K8656E	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K8339E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K7412E|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8339	Ig-like 69.						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)			TCAGCTCCTTTCAGTGTCTCT	0.398000													40	92					0	0	0.027894	0	0
POM121L12	285877	broad.mit.edu	37	7	53103453	53103453	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:53103453C>A	ENST00000408890.4	+	1	105	c.89C>A	c.(88-90)gCg>gAg	p.A30E		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	30										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GACGCCCTGGCGGCTCCCATG	0.692000													13	42					0.000422831	0.000435426	0.028581	1	0
PRKD3	23683	broad.mit.edu	37	2	37501611	37501611	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:37501611G>A	ENST00000379066.1	-	11	2366	c.1604C>T	c.(1603-1605)aCt>aTt	p.T535I	PRKD3_ENST00000234179.2_Missense_Mutation_p.T535I			O94806	KPCD3_HUMAN	protein kinase D3	535					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGCTTGAGGAGTAACAGGCAT	0.453000													18	45					0	0	0.007413	0	0
GRK4	2868	broad.mit.edu	37	4	3021418	3021418	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:3021418C>T	ENST00000398052.4	+	9	1135	c.792C>T	c.(790-792)ctC>ctT	p.L264L	GRK4_ENST00000398051.4_Silent_p.L232L|GRK4_ENST00000504933.1_Silent_p.L264L|GRK4_ENST00000345167.6_Silent_p.L232L	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	264	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTTGGTGCTCACCATTATGA	0.433000													44	60					0	0	0.042209	0	0
HSD17B14	51171	broad.mit.edu	37	19	49316972	49316972	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:49316972T>C	ENST00000263278.4	-	7	756	c.490A>G	c.(490-492)Atg>Gtg	p.M164V	HSD17B14_ENST00000599157.1_Missense_Mutation_p.M140V	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	164					steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		GCTTTGGTCATGGCTGTTACT	0.612000													41	58					0	0	0.030466	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097636	85097636	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:85097636C>G	ENST00000335459.5	-	2	587	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	TRABD2A_ENST00000409520.2_Missense_Mutation_p.E128Q|TRABD2A_ENST00000409133.1_Missense_Mutation_p.E128Q	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		TTGACATACTCCAGGTGGCGC	0.577000													15	39					0	0	0.024245	0	0
ZIK1	284307	broad.mit.edu	37	19	58102361	58102361	+	Silent	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:58102361C>A	ENST00000597850.1	+	4	1397	c.1182C>A	c.(1180-1182)ctC>ctA	p.L394L	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.L381L|ZIK1_ENST00000599456.1_Silent_p.L339L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	394					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)		AAGCTACCCTCATTAAACACC	0.438000													26	43					1.85244e-09	2.0013e-09	0.018920	1	0
AHRR	57491	broad.mit.edu	37	5	422960	422960	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:422960G>A	ENST00000316418.5	+	6	614	c.570G>A	c.(568-570)ccG>ccA	p.P190P	AHRR_ENST00000506456.1_Silent_p.P46P|AHRR_ENST00000512529.1_Silent_p.P36P|AHRR_ENST00000505113.1_Silent_p.P190P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGCAGCCCCCGCCCTTGGAGA	0.592000													6	47					0	0	0.029380	0	0
CNOT6L	246175	broad.mit.edu	37	4	78641757	78641757	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:78641757T>A	ENST00000504123.1	-	12	1626	c.1496A>T	c.(1495-1497)aAc>aTc	p.N499I	CNOT6L_ENST00000264903.4_Missense_Mutation_p.N499I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	499					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						ACCAAGCACGTTCATATGAGT	0.428000													40	131					0	0	0.030466	0	0
IFT140	9742	broad.mit.edu	37	16	1573848	1573848	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:1573848G>A	ENST00000426508.2	-	25	3614	c.3251C>T	c.(3250-3252)gCg>gTg	p.A1084V	IFT140_ENST00000361339.5_Missense_Mutation_p.A278V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1084								p.A1084E(1)|p.A1084V(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGCATGACCGCCCTGTCCAT	0.672000													13	38					0	0	0.013537	0	0
PLEC	5339	broad.mit.edu	37	8	144995409	144995409	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995409C>T	ENST00000322810.4	-	32	9160	c.8991G>A	c.(8989-8991)gaG>gaA	p.E2997E	PLEC_ENST00000436759.2_Silent_p.E2887E|PLEC_ENST00000398774.2_Silent_p.E2828E|PLEC_ENST00000354958.2_Silent_p.E2838E|PLEC_ENST00000354589.3_Silent_p.E2860E|PLEC_ENST00000357649.2_Silent_p.E2864E|PLEC_ENST00000527096.1_Silent_p.E2883E|PLEC_ENST00000356346.3_Silent_p.E2846E|PLEC_ENST00000345136.3_Silent_p.E2860E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2997	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGTGAGGTTCTCGTGCGTGT	0.657000													31	128					0	0	0.012213	0	0
FOXE3	2301	broad.mit.edu	37	1	47882283	47882283	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:47882283G>A	ENST00000335071.2	+	1	540	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_012186.2	NP_036318.1	Q13461	FOXE3_HUMAN	forkhead box E3	99					cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation	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			lung(3)|prostate(1)|upper_aerodigestive_tract(1)	5				READ - Rectum adenocarcinoma(2;0.0908)		GCCATCTACCGCTTCATCACC	0.662000													6	45					0	0	0.021553	0	0
NKIRAS2	28511	broad.mit.edu	37	17	40174467	40174467	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:40174467A>G	ENST00000307641.5	+	3	766	c.145A>G	c.(145-147)Aca>Gca	p.T49A	NKIRAS2_ENST00000393881.3_Missense_Mutation_p.T49A|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.T49A|NKIRAS2_ENST00000462043.2_Intron|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.T49A|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.T47A|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.T49A	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	49	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				CTCCATTGAGACAGACCGGGG	0.557000													27	42					0	0	0.024334	0	0
IL1B	3553	broad.mit.edu	37	2	113591119	113591119	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:113591119C>A	ENST00000263341.2	-	4	343	c.133G>T	c.(133-135)Gat>Tat	p.D45Y	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	45					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ATGCCGCCATCCAGAGGGCAG	0.602000													29	55					9.39395e-14	1.03805e-13	0.030593	1	0
ARAP1	116985	broad.mit.edu	37	11	72406880	72406880	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406880C>T	ENST00000359373.5	-	24	4154	c.3303G>A	c.(3301-3303)atG>atA	p.M1101I	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.M861I|ARAP1_ENST00000455638.2_Missense_Mutation_p.M1101I|ARAP1_ENST00000334211.8_Missense_Mutation_p.M856I|ARAP1_ENST00000426523.1_Missense_Mutation_p.M856I|ARAP1_ENST00000429686.1_Missense_Mutation_p.M795I|ARAP1_ENST00000393609.3_Missense_Mutation_p.M1101I			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1101	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTGCACGTTCATCTGGTTCG	0.537000													14	23					0	0	0.016723	0	0
NSL1	25936	broad.mit.edu	37	1	212965008	212965008	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:212965008C>A	ENST00000366977.3	-	1	116	c.98G>T	c.(97-99)cGa>cTa	p.R33L	NSL1_ENST00000366975.6_Missense_Mutation_p.R33L|NSL1_ENST00000422588.2_Missense_Mutation_p.R33L|NSL1_ENST00000366976.1_Missense_Mutation_p.R33L	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	33					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		AAAGTCTTCTCGGGGAGTGGC	0.632000													31	58					1.39806e-14	1.56634e-14	0.037714	1	0
PRDX6	9588	broad.mit.edu	37	1	173456943	173456943	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:173456943G>T	ENST00000340385.5	+	5	748	c.616G>T	c.(616-618)Gtc>Ttc	p.V206F	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	206					cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						CCCGAAAGGAGTCTTCACCAA	0.478000													38	42					1.07121e-22	1.22859e-22	0.027894	1	0
LINC00264	645528	broad.mit.edu	37	10	26880338	26880338	+	RNA	SNP	G	G	C	rs3118888	by1000genomes	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:26880338G>C	ENST00000412114.1	+	0	573					NR_026793.1																						GCTGAAACATGGAAGGTAAAA	0.483000													3	29					0	0	0.004672	0	0
USH1C	10083	broad.mit.edu	37	11	17531964	17531964	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:17531964A>C	ENST00000005226.7	-	17	1517	c.1518T>G	c.(1516-1518)aaT>aaG	p.N506K	USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CTGAAATCTCATTATCAGCAG	0.502000													10	12					0	0	0.008291	0	0
EIF4B	1975	broad.mit.edu	37	12	53410267	53410267	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:53410267G>C	ENST00000262056.9	+	2	350	c.24G>C	c.(22-24)aaG>aaC	p.K8N	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.K8N|EIF4B_ENST00000416762.3_Missense_Mutation_p.K8N|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	8					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAAAAAAGAAGAATAAGAAGG	0.393000													10	29					0	0	0.006214	0	0
KALRN	8997	broad.mit.edu	37	3	124398320	124398320	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:124398320G>A	ENST00000360013.3	+	51	7460	c.7333G>A	c.(7333-7335)Gag>Aag	p.E2445K	KALRN_ENST00000462213.1_Missense_Mutation_p.E62K|KALRN_ENST00000428018.2_Missense_Mutation_p.E716K|KALRN_ENST00000291478.4_Missense_Mutation_p.E748K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2444					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GAACAGTTCCGAGGAATCAGA	0.428000													38	122					0	0	0.023175	0	0
HLTF	6596	broad.mit.edu	37	3	148781271	148781271	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:148781271G>C	ENST00000310053.5	-	10	1300	c.1107C>G	c.(1105-1107)atC>atG	p.I369M	HLTF_ENST00000465259.1_Missense_Mutation_p.I369M|HLTF_ENST00000494055.1_Missense_Mutation_p.I369M|HLTF_ENST00000392912.2_Missense_Mutation_p.I369M	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	369					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTCTCCTTGATATCTGAAA	0.333000													25	61					0	0	0.034045	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638738	145638738	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:145638738C>T	ENST00000276833.5	-	9	1738	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	SLC39A4_ENST00000301305.3_Missense_Mutation_p.D504N|SLC39A4_ENST00000531013.1_5'UTR	NM_017767.2	NP_060237.2	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	504						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TGCACGGCGTCGCCCAGAGTG	0.697000													8	27					0	0	0.004482	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507588	74507588	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:74507588C>T	ENST00000354431.4	-	7	1218	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E343K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	343										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TCCAATTTTTCATCCACAATT	0.308000													5	40					0	0	0.014758	0	0
PLEC	5339	broad.mit.edu	37	8	144995127	144995127	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995127C>G	ENST00000322810.4	-	32	9442	c.9273G>C	c.(9271-9273)aaG>aaC	p.K3091N	PLEC_ENST00000436759.2_Missense_Mutation_p.K2981N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2922N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2932N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2954N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2958N|PLEC_ENST00000527096.1_Missense_Mutation_p.K2977N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2940N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2954N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3091	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTTGATGATCTTCTCCACTG	0.622000													17	53					0	0	0.028581	0	0
SLC6A5	9152	broad.mit.edu	37	11	20622705	20622705	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:20622705C>G	ENST00000525748.1	+	2	307	c.34C>G	c.(34-36)Ctg>Gtg	p.L12V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	12					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGAATAAACTGCCAGCCAA	0.572000													6	17					0	0	0.021553	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32232451	32232451	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:32232451G>A	ENST00000346541.3	+	12	2351	c.1814G>A	c.(1813-1815)tGa>tAa	p.*605*	CBFA2T2_ENST00000342704.5_Silent_p.*596*|CBFA2T2_ENST00000359606.3_Silent_p.*615*|CBFA2T2_ENST00000397800.1_Silent_p.*576*|CBFA2T2_ENST00000375279.2_Silent_p.*605*|CBFA2T2_ENST00000543126.1_Silent_p.*153*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	0						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACGGACTCTGAGCCCCGGAC	0.607000													33	99					0	0	0.017118	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924464	43924464	+	Silent	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43924464T>C	ENST00000396879.1	-	13	1600	c.1488A>G	c.(1486-1488)cgA>cgG	p.R496R	CATSPER2_ENST00000321596.5_Silent_p.R498R|CATSPER2_ENST00000355438.2_3'UTR|CATSPER2_ENST00000354127.4_Silent_p.R496R|CATSPER2_ENST00000381761.1_Silent_p.R502R|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	498					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACTCAAAATATCGGAAGAGTG	0.483000													21	53					0	0	0.008871	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601055	13601055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:13601055G>T	ENST00000040738.5	-	10	7604	c.7469C>A	c.(7468-7470)tCa>tAa	p.S2490*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2490							DNA binding										CCTTCCTGCTGAATAACTTGC	0.507000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	49					1.61879e-10	1.77261e-10	0.013537	1	0
USP24	23358	broad.mit.edu	37	1	55598230	55598230	+	Silent	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:55598230G>C	ENST00000294383.6	-	31	3524	c.3525C>G	c.(3523-3525)ctC>ctG	p.L1175L	USP24_ENST00000407756.1_Silent_p.L1015L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1175					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTAAGTTGTAGAGCACTCTGA	0.383000													29	41					0	0	0.037714	0	0
ELMO2	63916	broad.mit.edu	37	20	44999107	44999107	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:44999107T>C	ENST00000372176.1	-	20	2063	c.1595A>G	c.(1594-1596)gAg>gGg	p.E532G	ELMO2_ENST00000445496.2_Missense_Mutation_p.E437G|ELMO2_ENST00000352077.2_Missense_Mutation_p.E618G|ELMO2_ENST00000439931.2_Missense_Mutation_p.E632G|ELMO2_ENST00000290246.6_Missense_Mutation_p.E620G|ELMO2_ENST00000396391.1_Missense_Mutation_p.E620G|ELMO2_ENST00000454865.2_Missense_Mutation_p.E352G			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	620					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGCACTTTTCTCTTTCATGTG	0.458000													27	107					0	0	0.027356	0	0
LGR5	8549	broad.mit.edu	37	12	71965319	71965319	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:71965319G>C	ENST00000266674.5	+	12	1407	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	LGR5_ENST00000540815.2_Missense_Mutation_p.D342H|LGR5_ENST00000536515.1_Missense_Mutation_p.D294H			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	366						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTATTAGAAGATTTACCCAG	0.338000													7	28					0	0	0.038147	0	0
DNAI2	64446	broad.mit.edu	37	17	72308173	72308173	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:72308173T>A	ENST00000579490.1	+	11	1832	c.1697T>A	c.(1696-1698)aTc>aAc	p.I566N	DNAI2_ENST00000582036.1_Missense_Mutation_p.I497N|DNAI2_ENST00000307504.5_Missense_Mutation_p.I366N|DNAI2_ENST00000446837.2_Missense_Mutation_p.I509N|DNAI2_ENST00000311014.6_Missense_Mutation_p.I509N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	509					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGAGAGAAGATCCTGGAGGCC	0.652000									Kartagener syndrome				14	21					0	0	0.024245	0	0
SELE	6401	broad.mit.edu	37	1	169694892	169694892	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:169694892A>C	ENST00000333360.7	-	13	1965	c.1826T>G	c.(1825-1827)aTc>aGc	p.I609S	SELE_ENST00000367779.4_Missense_Mutation_p.I483S|SELE_ENST00000367776.1_Missense_Mutation_p.I546S|SELE_ENST00000367775.1_Missense_Mutation_p.I484S|SELE_ENST00000367777.1_Missense_Mutation_p.I546S|SELE_ENST00000367781.4_Missense_Mutation_p.I546S|SELE_ENST00000367782.4_Missense_Mutation_p.I546S|SELE_ENST00000367780.4_Missense_Mutation_p.I484S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.I483S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	609					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACTTAAAGGATGTAAGAAGG	0.408000													13	26					0	0	0.020292	0	0
NCF1B	654816	broad.mit.edu	37	7	72640053	72640053	+	RNA	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr7:72640053G>A	ENST00000423083.1	+	0	158					NR_003186.1																						TTCAAGGTGCGCCCTGATGAC	0.587000													15	13					0	0	0.012319	0	0
BMP10	27302	broad.mit.edu	37	2	69093522	69093522	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:69093522C>T	ENST00000295379.1	-	2	674	c.516G>A	c.(514-516)gaG>gaA	p.E172E		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	172					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CCCCTTTGCTCTCCAGCACTT	0.448000													25	61					0	0	0.024334	0	0
PLEK	5341	broad.mit.edu	37	2	68620335	68620335	+	Missense_Mutation	SNP	G	G	C	rs146499837		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:68620335G>C	ENST00000234313.7	+	7	983	c.804G>C	c.(802-804)ttG>ttC	p.L268F		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	268	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGTTCATCTTGAGAGAAGACC	0.423000													45	130					0	0	0.039052	0	0
LIN9	286826	broad.mit.edu	37	1	226465500	226465500	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:226465500G>A	ENST00000328205.5	-	7	1251	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	LIN9_ENST00000481685.1_Silent_p.L201L|LIN9_ENST00000366801.1_Silent_p.L185L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	220	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CCAATAACCAGAGGCAAAGGA	0.333000													12	48					0	0	0.013537	0	0
POLDIP3	84271	broad.mit.edu	37	22	42981957	42981957	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:42981957G>T	ENST00000252115.5	-	9	1210	c.1106C>A	c.(1105-1107)cCa>cAa	p.P369Q	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P340Q|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000451060.2_3'UTR	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	369					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTTCATTGATGGGCTGTCACT	0.552000													7	35					8.12818e-05	8.51524e-05	0.029380	1	0
PNKP	11284	broad.mit.edu	37	19	50368399	50368399	+	Silent	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:50368399C>T	ENST00000322344.3	-	4	592	c.483G>A	c.(481-483)gtG>gtA	p.V161V	PNKP_ENST00000600573.1_Silent_p.V161V|PNKP_ENST00000596014.1_Silent_p.V161V|PNKP_ENST00000600910.1_Silent_p.V161V	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	161					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCTGGGGTTTCACCCCAGCTG	0.582000								Other BER factors					5	21					0	0	0.014758	0	0
RIMS4	140730	broad.mit.edu	37	20	43385614	43385614	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:43385614G>A	ENST00000372851.3	-	5	582	c.516C>T	c.(514-516)gtC>gtT	p.V172V	RIMS4_ENST00000541604.2_Silent_p.V173V	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	172	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.V172V(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ACTTGCGAGCGACTTTGGTCT	0.562000													117	361					0	0	0.014410	0	0
SYT5	6861	broad.mit.edu	37	19	55690416	55690416	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:55690416G>A	ENST00000590851.1	-	1	342	c.158C>T	c.(157-159)cCg>cTg	p.P53L	SYT5_ENST00000354308.3_5'UTR|SYT5_ENST00000537500.1_5'UTR			O00445	SYT5_HUMAN	synaptotagmin V	0					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACATGGTGGCGGGGTCCTGGA	0.642000													8	15					0	0	0.004482	0	0
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:44337822C>G	ENST00000288390.2	+	6	1077	c.730C>G	c.(730-732)Cca>Gca	p.P244A	SPATS1_ENST00000323108.8_Missense_Mutation_p.P244A			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323000													42	54					0	0	0.014410	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													4	20					0	0	0.009096	0	0
HBD	3045	broad.mit.edu	37	11	5255269	5255269	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:5255269C>G	ENST00000380299.3	-	2	481	c.267G>C	c.(265-267)ctG>ctC	p.L89L	HBD_ENST00000292901.3_Silent_p.L89L	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	89			L -> V (in Lucania; dbSNP:rs34933313).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTCACTCAGCTGAGAAA	0.493000													30	60					0	0	0.010818	0	0
OSGEPL1	64172	broad.mit.edu	37	2	190617430	190617430	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:190617430C>T	ENST00000264151.5	-	7	1217	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	OSGEPL1_ENST00000519810.1_Intron|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.R372H	NM_022353.2	NP_071748.2	Q9H4B0	OSGP2_HUMAN	O-sialoglycoprotein endopeptidase-like 1	372					proteolysis|tRNA processing		metalloendopeptidase activity			large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			CAAGCCAGCACGTAGTCTTTC	0.343000													28	59					0	0	0.027356	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661474	22661474	+	RNA	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:22661474C>T	ENST00000426066.1	+	0	364					NR_027293.1																						CCCTCAGATGCGTCTGAAGAA	0.493000													11	82					0	0	0.028581	0	0
USP6NL	9712	broad.mit.edu	37	10	11505446	11505446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr10:11505446G>A	ENST00000379237.1	-	15	1875	c.1481C>T	c.(1480-1482)tCa>tTa	p.S494L	USP6NL_ENST00000277575.5_Missense_Mutation_p.S511L	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	494						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CTCTGTAGCTGAGACGTCTGA	0.537000													46	206					0	0	0.014410	0	0
TNIK	23043	broad.mit.edu	37	3	170786641	170786641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr3:170786641G>T	ENST00000436636.2	-	30	4039	c.3695C>A	c.(3694-3696)tCt>tAt	p.S1232Y	TNIK_ENST00000470834.1_Missense_Mutation_p.S1195Y|TNIK_ENST00000357327.5_Missense_Mutation_p.S1203Y|TNIK_ENST00000341852.6_Missense_Mutation_p.S1148Y|TNIK_ENST00000284483.8_Missense_Mutation_p.S1224Y|TNIK_ENST00000538048.1_Missense_Mutation_p.S1184Y|TNIK_ENST00000488470.1_Missense_Mutation_p.S1177Y|TNIK_ENST00000475336.1_Missense_Mutation_p.S1140Y|TNIK_ENST00000369326.5_Missense_Mutation_p.S1210Y|TNIK_ENST00000460047.1_Missense_Mutation_p.S1169Y	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1232	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACTTACATGAGATGGTATGTA	0.363000													8	46					0.000157383	0.000163462	0.038147	1	0
KANSL2	54934	broad.mit.edu	37	12	49073534	49073534	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:49073534C>T	ENST00000550347.1	-	2	926	c.883G>A	c.(883-885)Ggt>Agt	p.G295S	KANSL2_ENST00000553086.1_Missense_Mutation_p.G112S|KANSL2_ENST00000420613.2_Missense_Mutation_p.G112S|KANSL2_ENST00000357861.3_5'UTR			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	112								p.G112C(2)									AGTGTTTCACCCACAGGCCCT	0.507000													6	17					0	0	0.021553	0	0
INTS10	55174	broad.mit.edu	37	8	19681434	19681434	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:19681434A>G	ENST00000397977.3	+	7	1113	c.715A>G	c.(715-717)Aag>Gag	p.K239E		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	239					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TAGCTCTCAGAAGTACATAAT	0.398000													24	50					0	0	0.024334	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21471722	21471722	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr12:21471722C>G	ENST00000307378.6	-	4	916	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E64Q|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E66Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	66					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTACCAATCTCAAAGCTTCCA	0.328000													23	61					0	0	0.016522	0	0
DDX58	23586	broad.mit.edu	37	9	32493813	32493813	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32493813G>A	ENST00000379882.1	-	2	391	c.234C>T	c.(232-234)atC>atT	p.I78I	DDX58_ENST00000542096.1_Silent_p.I52I|DDX58_ENST00000545044.1_5'UTR|DDX58_ENST00000379868.1_5'UTR|DDX58_ENST00000379883.2_Silent_p.I123I			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	123	CARD 1.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		GATCAGAAATGATATCGGTTG	0.274000													26	23					0	0	0.027356	0	0
PLEC	5339	broad.mit.edu	37	8	144996152	144996152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996152C>G	ENST00000322810.4	-	32	8417	c.8248G>C	c.(8248-8250)Gag>Cag	p.E2750Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E2640Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2581Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2591Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2613Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2617Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2636Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2599Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2613Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2750	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGACCTCCTCTGAGTGCGCC	0.687000													4	45					0	0	0.009096	0	0
M1AP	130951	broad.mit.edu	37	2	74785901	74785901	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:74785901G>A	ENST00000290536.5	-	11	1651	c.1535C>T	c.(1534-1536)tCt>tTt	p.S512F	M1AP_ENST00000358434.2_Missense_Mutation_p.S161F|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.S508F|M1AP_ENST00000409585.1_Missense_Mutation_p.S508F	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ATCTGAGGAAGATTTGCTGGC	0.587000													14	85					0	0	0.020292	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400138	139400138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139400138C>T	ENST00000277541.6	-	25	4285	c.4210G>A	c.(4210-4212)Gag>Aag	p.E1404K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1404	EGF-like 36.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATGTGGGCTCACAGGTCCCC	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			35	49					0	0	0.013726	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													4	24					0	0	0.014758	0	0
BEND2	139105	broad.mit.edu	37	X	18183158	18183158	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:18183158C>G	ENST00000380033.4	-	14	2503	c.2371G>C	c.(2371-2373)Gat>Cat	p.D791H		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	791										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTCGGGATCTCCTGGCTTT	0.478000													64	43					0	0	0.014410	0	0
PLEC	5339	broad.mit.edu	37	8	144995066	144995066	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144995066C>G	ENST00000322810.4	-	32	9503	c.9334G>C	c.(9334-9336)Gag>Cag	p.E3112Q	PLEC_ENST00000436759.2_Missense_Mutation_p.E3002Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E2943Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E2953Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E2975Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E2979Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E2998Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E2961Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E2975Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3112	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCAGGCCCTCAAAGCAAAGC	0.647000													13	35					0	0	0.016723	0	0
SDF4	51150	broad.mit.edu	37	1	1164020	1164020	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:1164020C>T	ENST00000263741.7	-	2	446	c.154G>A	c.(154-156)Gag>Aag	p.E52K	SDF4_ENST00000459994.2_5'UTR|SDF4_ENST00000545427.1_Missense_Mutation_p.E52K|SDF4_ENST00000360001.6_Missense_Mutation_p.E52K	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	52					cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		TCATTCTCCTCCCTGTTGGCT	0.627000													29	44					0	0	0.041601	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161325	151161325	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:151161325C>T	ENST00000367328.1	+	17	3763	c.3451C>T	c.(3451-3453)Cag>Tag	p.Q1151*	PLEKHG1_ENST00000358517.2_Nonsense_Mutation_p.Q1151*	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1151					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)		GGTAGTAAGTCAGCCCAACAA	0.522000													25	114					0	0	0.016522	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													4	24					0	0	0.014758	0	0
ACVR1	90	broad.mit.edu	37	2	158617419	158617419	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:158617419C>G	ENST00000263640.3	-	9	1666	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	ACVR1_ENST00000409283.2_Missense_Mutation_p.E413Q|ACVR1_ENST00000434821.1_Missense_Mutation_p.E413Q|ACVR1_ENST00000410057.2_Missense_Mutation_p.E413Q	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	413	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTGGCCACTTCCCACAAAACA	0.433000													5	34					0	0	0.029380	0	0
SPEF2	79925	broad.mit.edu	37	5	35692806	35692806	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr5:35692806G>A	ENST00000440995.2	+	12	1879	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	SPEF2_ENST00000509059.1_Missense_Mutation_p.E627K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.E627K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	627					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTCTGCAAGAGGAGATTAA	0.393000													21	41					0	0	0.016522	0	0
ABCC8	6833	broad.mit.edu	37	11	17427072	17427072	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:17427072C>G	ENST00000302539.4	-	27	3496	c.3371G>C	c.(3370-3372)aGa>aCa	p.R1124T	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1123T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1123	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGATGAAAATCTGTTCAGGAT	0.512000													46	101					0	0	0.014410	0	0
CASP1	834	broad.mit.edu	37	11	104901918	104901918	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:104901918T>C	ENST00000533400.1	-	4	462	c.427A>G	c.(427-429)Agg>Ggg	p.R143G	CASP1_ENST00000446369.1_Missense_Mutation_p.R50G|CASP1_ENST00000436863.3_Missense_Mutation_p.R143G|CASP1_ENST00000393136.4_Missense_Mutation_p.R122G|CASP1_ENST00000525825.1_Missense_Mutation_p.R122G|CASP1_ENST00000526568.1_Missense_Mutation_p.R50G|CASP1_ENST00000534497.1_Missense_Mutation_p.R50G|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.R122G|CASP1_ENST00000527979.1_Missense_Mutation_p.R106G|CASP1_ENST00000528974.1_Missense_Mutation_p.R104G|CASP1_ENST00000594519.1_Missense_Mutation_p.R50G|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.R143G	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	143					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTCCATATCCTTTGAGCTTCT	0.507000													16	24					0	0	0.028581	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118878	31118878	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:31118878G>C	ENST00000396268.3	-	5	1011	c.823C>G	c.(823-825)Cac>Gac	p.H275D	CCHCR1_ENST00000376266.5_Missense_Mutation_p.H186D|CCHCR1_ENST00000451521.2_Missense_Mutation_p.H239D|CCHCR1_ENST00000396263.2_Missense_Mutation_p.H186D|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	186			E -> D (in dbSNP:rs130067).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCTCCTCGTGAGCCTGTGTC	0.572000													41	146					0	0	0.036044	0	0
KMT2A	4297	broad.mit.edu	37	11	118339526	118339526	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:118339526G>A	ENST00000534358.1	+	2	492	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	KMT2A_ENST00000389506.5_Missense_Mutation_p.V157I|KMT2A_ENST00000354520.4_Missense_Mutation_p.V157I	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGATGAAGAAGTCAGAGTGCG	0.408000													19	28					0	0	0.008871	0	0
EPB41L1	2036	broad.mit.edu	37	20	34761727	34761727	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:34761727G>A	ENST00000338074.2	+	2	189	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41L1_ENST00000441639.1_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E10K|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000202028.5_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	10					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCCCGACTCTGAGGTGAAGAA	0.627000													20	69					0	0	0.014323	0	0
CUL7	9820	broad.mit.edu	37	6	43008291	43008291	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:43008291C>T	ENST00000535468.1	-	21	4338	c.4252G>A	c.(4252-4254)Gag>Aag	p.E1418K	CUL7_ENST00000265348.3_Missense_Mutation_p.E1334K	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1334					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTGTATCCTCCAGCTTCAGG	0.567000													57	187					0	0	0.014410	0	0
BAZ2B	29994	broad.mit.edu	37	2	160245956	160245956	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr2:160245956C>G	ENST00000392783.2	-	21	3611	c.3116G>C	c.(3115-3117)aGa>aCa	p.R1039T	BAZ2B_ENST00000392782.1_Missense_Mutation_p.R1003T|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R939T|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Missense_Mutation_p.R1005T	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1039	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTATTTAATCTTTTCTCATC	0.323000													23	56					0	0	0.014323	0	0
SMAD4	4089	broad.mit.edu	37	18	48584552	48584552	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr18:48584552C>G	ENST00000342988.3	+	6	1263	c.725C>G	c.(724-726)tCa>tGa	p.S242*	SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S242*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	242					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.S242*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGATAGCATCAGGGCCTCAG	0.433000													21	14					0	0	0.010504	0	0
LDLR	3949	broad.mit.edu	37	19	11242105	11242105	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:11242105A>G	ENST00000557933.1	+	18	2845	c.2758A>G	c.(2758-2760)Ata>Gta	p.I920V	LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000558013.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000455727.2_3'UTR			P01130	LDLR_HUMAN	low density lipoprotein receptor	0					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)	TTTGTTTTATATATTTATTCA	0.488000											OREG0025249	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	0.008291	0	0
CORO1A	11151	broad.mit.edu	37	16	30199820	30199820	+	Missense_Mutation	SNP	C	C	T	rs150186033	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:30199820C>T	ENST00000219150.5	+	10	1509	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Missense_Mutation_p.R402W	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	402					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCAAAGAGCCGGGAGCTGAG	0.701000													20	29					0	0	0.008871	0	0
CIRH1A	84916	broad.mit.edu	37	16	69199456	69199456	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:69199456A>G	ENST00000563094.1	+	15	1894	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	CIRH1A_ENST00000314423.7_Intron|CIRH1A_ENST00000352319.4_Intron			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	0						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TACCTCCCAAATCTTCTTCTG	0.403000													14	24					0	0	0.016723	0	0
PCDH19	57526	broad.mit.edu	37	X	99657785	99657785	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:99657785C>G	ENST00000373034.4	-	3	4028	c.2353G>C	c.(2353-2355)Gac>Cac	p.D785H	PCDH19_ENST00000420881.2_Missense_Mutation_p.D738H|PCDH19_ENST00000255531.7_Missense_Mutation_p.D738H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	785					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGGCGGATGTCATTCTTACTG	0.448000													10	14					0	0	0.006214	0	0
EPB42	2038	broad.mit.edu	37	15	43508574	43508574	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:43508574G>A	ENST00000300215.3	-	2	635	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	EPB42_ENST00000540029.1_Missense_Mutation_p.R30C|EPB42_ENST00000441366.2_Missense_Mutation_p.R30C			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	30					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACAAAGAGGCGCCGGGAGCTG	0.582000													27	50					0	0	0.027356	0	0
PLEC	5339	broad.mit.edu	37	8	144996395	144996395	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:144996395C>T	ENST00000322810.4	-	32	8174	c.8005G>A	c.(8005-8007)Gag>Aag	p.E2669K	PLEC_ENST00000436759.2_Missense_Mutation_p.E2559K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2500K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2510K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2532K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2536K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2555K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2518K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2532K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2669	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						tgctgctCCTCACGCAGCTGC	0.672000													9	8					0	0	0.006214	0	0
HUWE1	10075	broad.mit.edu	37	X	53560308	53560308	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:53560308C>A	ENST00000342160.3	-	83	13544	c.13087G>T	c.(13087-13089)Gct>Tct	p.A4363S	HUWE1_ENST00000262854.6_Missense_Mutation_p.A4363S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4363	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTGGATAGCCAACAGTAGC	0.512000													8	5					0.000157383	0.000163462	0.038147	1	0
LMO7	4008	broad.mit.edu	37	13	76381901	76381901	+	Silent	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr13:76381901A>G	ENST00000357063.3	+	11	2898	c.1638A>G	c.(1636-1638)gtA>gtG	p.V546V	LMO7_ENST00000465261.2_Silent_p.V261V|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000377534.3_Silent_p.V546V|LMO7_ENST00000321797.8_Silent_p.V261V|LMO7_ENST00000526202.1_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	546						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATGATTCTGTAGAGCGAGATA	0.388000													30	59					0	0	0.034045	0	0
TENM4	26011	broad.mit.edu	37	11	78381038	78381038	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:78381038C>T	ENST00000278550.7	-	32	6814	c.6352G>A	c.(6352-6354)Gag>Aag	p.E2118K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CCAAACTGCTCTGTCTTGCCT	0.478000													19	26					0	0	0.038395	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793518	65793518	+	Silent	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:65793518G>A	ENST00000312106.5	-	1	470	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	111	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCCTCACCGTAGGAACGGT	0.597000													22	125					0	0	0.012319	0	0
PHF20L1	51105	broad.mit.edu	37	8	133837598	133837598	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:133837598A>G	ENST00000395386.2	+	14	2025	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E	PHF20L1_ENST00000395390.2_Missense_Mutation_p.K551E|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	576	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			aaaaaagaaaaagaaATCTAA	0.303000													7	0					0	0	0.029380	0	0
ZNF254	9534	broad.mit.edu	37	19	24309211	24309211	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr19:24309211G>A	ENST00000357002.4	+	4	524	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	ZNF254_ENST00000342944.6_Missense_Mutation_p.E52K	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	137					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTGAACAAAGAAGGTTATAA	0.299000													23	34					0	0	0.012319	0	0
C15orf27	123591	broad.mit.edu	37	15	76426621	76426621	+	Missense_Mutation	SNP	C	C	G	rs114291110	by1000genomes	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:76426621C>G	ENST00000388942.3	+	2	293	c.17C>G	c.(16-18)tCt>tGt	p.S6C		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	6						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTGGCTCCATCTTTCAACATG	0.463000													26	38					0	0	0.030593	0	0
EI24	9538	broad.mit.edu	37	11	125453532	125453532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:125453532C>A	ENST00000278903.6	+	12	1216	c.974C>A	c.(973-975)tCa>tAa	p.S325*	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000343678.4_3'UTR|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	326					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAGTTCCCTTCACCGCATCCG	0.552000													15	22					1.3612e-06	1.44479e-06	0.024245	1	0
FSCB	84075	broad.mit.edu	37	14	44975541	44975541	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:44975541G>A	ENST00000340446.4	-	1	941	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	217						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGAGTAAATGAAGTTCTGCT	0.393000													26	64					0	0	0.021523	0	0
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537000		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)			27	10					0	0	0.037714	0	0
ZZEF1	23140	broad.mit.edu	37	17	3979948	3979948	+	Missense_Mutation	SNP	C	C	T	rs143736611	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr17:3979948C>T	ENST00000381638.2	-	21	3341	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1073							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGTCCTCCTTCGGGGCCACTA	0.552000													10	26					0	0	0.006214	0	0
PPFIA4	8497	broad.mit.edu	37	1	203025593	203025593	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:203025593G>C	ENST00000367240.2	+	17	2661	c.2134G>C	c.(2134-2136)Gag>Cag	p.E712Q	PPFIA4_ENST00000414050.2_Missense_Mutation_p.E440Q|PPFIA4_ENST00000599966.1_Missense_Mutation_p.E227Q|PPFIA4_ENST00000272198.6_Missense_Mutation_p.E227Q|PPFIA4_ENST00000447715.2_Missense_Mutation_p.E711Q|PPFIA4_ENST00000295706.4_Missense_Mutation_p.E227Q			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	227					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GCTGCGGCTAGAGAAGCTTGG	0.567000													8	30					0	0	0.038147	0	0
FZD6	8323	broad.mit.edu	37	8	104343656	104343656	+	Silent	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:104343656C>G	ENST00000358755.4	+	7	2357	c.2040C>G	c.(2038-2040)ctC>ctG	p.L680L	FZD6_ENST00000540287.1_Silent_p.L375L|FZD6_ENST00000523739.1_Silent_p.L648L|FZD6_ENST00000522566.1_Silent_p.L680L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	680					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCA	0.448000													34	105					0	0	0.015359	0	0
ATP10A	57194	broad.mit.edu	37	15	25953381	25953381	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr15:25953381G>A	ENST00000356865.6	-	11	2522	c.2411C>T	c.(2410-2412)gCg>gTg	p.A804V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	804					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTTCCGCCGCATACACGTT	0.567000													4	132					0	0	0.009096	0	0
ARAP1	116985	broad.mit.edu	37	11	72406446	72406446	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:72406446C>G	ENST00000359373.5	-	26	4413	c.3562G>C	c.(3562-3564)Gag>Cag	p.E1188Q	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.E948Q|ARAP1_ENST00000455638.2_Missense_Mutation_p.E1188Q|ARAP1_ENST00000334211.8_Missense_Mutation_p.E943Q|ARAP1_ENST00000426523.1_Missense_Mutation_p.E943Q|ARAP1_ENST00000429686.1_Missense_Mutation_p.E882Q|ARAP1_ENST00000393609.3_Missense_Mutation_p.E1188Q			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1188	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ATATGCTGCTCAGTCTCTGCC	0.577000													14	52					0	0	0.033300	0	0
LRRC7	57554	broad.mit.edu	37	1	70504339	70504340	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:70504339_70504340insA	ENST00000310961.5	+	22	3151_3152	c.2733_2734insA	c.(2731-2736)agatgtfs	p.C912fs	LRRC7_ENST00000415775.2_Frame_Shift_Ins_p.C191fs|LRRC7_ENST00000035383.5_Frame_Shift_Ins_p.C907fs			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	907						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAGTCTTAGTAATGTCTTTTC	0.401													10	64	---	---	---	---					
TUFT1	7286	broad.mit.edu	37	1	151542192	151542206	+	In_Frame_Del	DEL	GGCCAAGCTTCAGGA	GGCCAAGCTTCAGGA	-	rs149655288		TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr1:151542192_151542206delGGCCAAGCTTCAGGA	ENST00000368849.3	+	7	602_616	c.540_554delGGCCAAGCTTCAGGA	c.(538-555)ctg>ct	p.LAKLQE180del	TUFT1_ENST00000392712.3_In_Frame_Del_p.LAKLQE125del|TUFT1_ENST00000353024.3_In_Frame_Del_p.LAKLQE121del|TUFT1_ENST00000368848.2_In_Frame_Del_p.LAKLQE155del|TUFT1_ENST00000538902.1_In_Frame_Del_p.LAKLQE199del	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	180					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGACTTGCTGGCCAAGCTTCAGGAGGCCAAGCGG	0.540													39	203	---	---	---	---					
NCAPG	64151	broad.mit.edu	37	4	17841312	17841313	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:17841312_17841313insT	ENST00000251496.2	+	17	2656_2657	c.2480_2481insT	c.(2479-2481)cgafs	p.R827fs		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	827					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTAACAGTACATGACAATTTGG	0.312													9	31	---	---	---	---					
PET112	5188	broad.mit.edu	37	4	152593929	152593930	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr4:152593929_152593930insT	ENST00000263985.6	-	12	1569_1570	c.1529_1530insA	c.(1528-1530)ggcfs	p.G510fs	PET112_ENST00000515812.1_Frame_Shift_Ins_p.G469fs|PET112_ENST00000507592.1_5'UTR	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	510						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAGGATGGGCCTCCATCACAGA	0.609													17	35	---	---	---	---					
DDX43	55510	broad.mit.edu	37	6	74114465	74114466	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr6:74114465_74114466insA	ENST00000370336.4	+	5	779_780	c.621_622insA	c.(619-624)gctgtcfs	p.V208fs	DDX43_ENST00000539829.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	208						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCACAAGTGCCATGTCAAAAGT	0.361													75	102	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						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)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			8	126	---	---	---	---					
ACO1	48	broad.mit.edu	37	9	32448900	32448900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:32448900delA	ENST00000379923.1	+	21	2583	c.2377delA	c.(2377-2379)aafs	p.K793fs	ACO1_ENST00000309951.5_Frame_Shift_Del_p.K793fs|ACO1_ENST00000541043.1_Frame_Shift_Del_p.K694fs	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	793					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCAGGGAATCAAAGCCGTCCT	0.468													34	24	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139410477	139410477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr9:139410477delT	ENST00000277541.6	-	10	1700	c.1625delA	c.(1624-1626)agfs	p.K542fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	542	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCCAGGCACTTGGCACCATT	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			54	17	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													8	3	---	---	---	---					
MTHFD1	4522	broad.mit.edu	37	14	64906869	64906879	+	Frame_Shift_Del	DEL	GTGAAATTATG	GTGAAATTATG	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr14:64906869_64906879delGTGAAATTATG	ENST00000555709.1	+	18	2087_2097	c.1700_1710delGTGAAATTATG	c.(1699-1710)afs	p.SEIM567fs	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000555252.1_Frame_Shift_Del_p.SEIM547fs|MTHFD1_ENST00000545908.1_Frame_Shift_Del_p.SEIM623fs|MTHFD1_ENST00000216605.7_Frame_Shift_Del_p.SEIM623fs	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	567	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCTGTGGCCAGTGAAATTATGGCTGTCCTGG	0.479													24	38	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24802886	24802887	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr16:24802886_24802887insT	ENST00000395799.3	+	6	3052_3053	c.2923_2924insT	c.(2923-2925)accfs	p.T975fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.T975fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	975	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGGGGGACCTATACCAGCCCCA	0.525													27	47	---	---	---	---					
RALGAPA2	57186	broad.mit.edu	37	20	20621406	20621407	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:20621406_20621407insA	ENST00000202677.6	-	6	630_631	c.488_489insT	c.(487-489)atcfs	p.I163fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	163					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCCTGGATGACATGACTGCTGG	0.485													22	84	---	---	---	---					
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs112129664	byFrequency	TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chr20:46279864_46279866delCAA	ENST00000372004.3	+	20	3994_3996	c.3778_3780delCAA	c.(3778-3780)del	p.Q1272del	NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del|NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567													12	93	---	---	---	---					
FLNA	2316	broad.mit.edu	37	X	153580304	153580305	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-CR-7365-01A-11D-2012-08	TCGA-CR-7365-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec114413-a950-4e74-abc8-98857af8b9ad	247b7339-48fe-485b-8266-1e8488d1527d	g.chrX:153580304_153580305delAA	ENST00000422373.1	-	41	7078_7079	c.6830_6831delTT	c.(6829-6831)tfs	p.F2277fs	FLNA_ENST00000369856.3_Frame_Shift_Del_p.F418fs|FLNA_ENST00000360319.4_Frame_Shift_Del_p.F2277fs|FLNA_ENST00000344736.4_Frame_Shift_Del_p.F2245fs|FLNA_ENST00000369850.3_Frame_Shift_Del_p.F2285fs	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2285					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					TGCGGTCCTCAAAAGAGATCTC	0.619													40	22	---	---	---	---					
